MaterniT NIPT
Sample Lab Reports
MaterniT NIPT Sample Lab Reports | 2
Table of Contents
Core - Positive T21 .......................................................... 3
Core - Negative. GENOME-Flex (Redraw) ..............5
Core + SCA - Triple X detected ..................................8
Core + ESS - Negative. GENOME-Flex (Redraw) . 10
Core + ESS (Twin) - 1p36 deletion detected ......... 13
Core + SCA + ESS - Positive T21 ............................... 15
Core + SCA + ESS - Positive T18 ............................... 18
Core + SCA + ESS - Positive T16 ............................... 21
Core + SCA + ESS - Positive T21 and T18 .............. 24
Core + SCA + ESS - Positive T18 and T13 .............. 28
Core + SCA + ESS - Positive T21 and T22 ............. 31
Core + SCA + ESS - Positive T21 and 47XXY ...... 34
Core + SCA + ESS - 11q23 deletion detected .......37
Core + SCA + ESS - 15q11 deletion detected ....... 40
Core + SCA + ESS - Positive Monosomy X ........... 43
Core + SCA + ESS - QNS ........................................... 45
Sample
lab reports
MaterniT21 PLUS:
Core
MaterniT21 PLUS will screen for
Trisomy 21, Trisomy 18, Trisomy 13,
and Fetal Sex (optional)
QNS
Quantity Not Sucient - An
insucient volume of DNA was able
to be extracted to complete the test
GENOME-Flex (Redraw)
The entire patient specimen was used to
generate the initial MaterniT21 PLUS result. If
there is a future need to add GENOME-Flex a
specimen redraw will be required.
KEY
MaterniT NIPT Sample Lab Reports | 3
Table of Contents
Test Result
Trisomy 21
Positive
Lab Director Comments
This specimen showed an increased amount of chromosome 21 material (trisomy 21), such as may be found in pregnancies with Down
syndrome.
Result Table
Content
Result
FETAL SEX
Consistent with Male
AUTOSOMAL ANEUPLOIDIES
Trisomy 21 (Down syndrome)
Positive T21 PPV*: 96.4%
Trisomy 18 (Edwards syndrome)
Negative
Trisomy 13 (Patau syndrome)
Negative
Positive Predictive Value
* Positive Predictive Value (PPV) estimates the probability that a pregnancy with a positive test result is in fact an affected pregnancy. The PPV for this patient was calculated only using maternal age and gestational
age[1], test performance[2] and the standard PPV formula.
For a more accurate and individualized PPV calculation, include additional clinical information from the patient
’s clinical history (which may include serum screen results, personal/family history, ultrasound findings,
etc.), and refer to the table below.
A P rio ri R isk
(1:X)
10
20
30
40
50
100
200
300
400
500
1000
1500
2000
2500
3000
5000
PPV (%)
TRISO M Y 21
99.1
98.1
97.2
96.2
95.3
90.9
83.3
76.8
71.3
66.5
49.8
39.8
33.1
28.4
24.8
16.5
Negative Predictive Value
The Negative Predictive V
alue (NPV) for trisomy 21, 18, and 13 is greater than 99%. The NPV for SCA and ESS cannot be calculated as SCA and ESS are only reported when an abnormality is detected.
About the Test
The MaterniT
® 21 PLUS laboratory-developed test (LDT) analyzes circulating cell-free DNA from a maternal blood sample. The test is indicated for use in pregnant women with increased risk for fetal chromosomal
aneuploidy. Validation data on twin pregnancies is limited and the ability of this test to detect aneuploidy in a triplet pregnancy has not yet been validated.
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 1 of 2
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom. ©2020 Sequenom Laboratories.
rep-1404-v1-11
19 | 22065-1119-1
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Ordering Provider:
Provider Location:
Provider Phone:
Date Ordered:
Date Collected:
Date Received:
Order ID:
Patient ID:
Last, First
Patient:
DOB:
Specimen:
Fetal Fraction:
Gestational Age ≥ 9w:
External Accession:
Referral Clinician:
Date Reported:
01/10/2020 01:22 PM PT
MaterniT® 21 PLUS (Core)
Singleton Gestation
Last, First
Sequenom SD
09/24/2019
09/24/2019
09/24/2019
xxx1234567
1234567890
mm/dd/year
1234567890
7%
Yes
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 4
Table of Contents
Test Method
Circulating cell-free DNA
was purified from the plasma component of maternal blood. The extracted DNA was then converted into a genomic DNA library for aneuploidy analysis of chromosomes 21, 18, and 13 via
next generation sequencing.[3] Optional findings based on the test order include sex chromosome aneuploidy (SCA)[2], and enhanced sequencing series (ESS)[4], which will only be reported on as an additional
finding when an abnormality is detected. SCA testing includes information on X and Y representation, while ESS testing includes deletions in selected regions (22q, 15q, 11q, 8q, 5p, 4p, 1p) and trisomy of
chromosomes 16 and 22.
Performance
The performance characteristics of the MaterniT
® 21 PLUS laboratory-developed test (LDT) have been determined in a clinical validation study with pregnant women at increased risk for fetal chromosomal aneuploidy.
[2],[3],[4],[5]
Accuracy: 99.4%
Estim ated S ensitivity**
Estimated S pecificity
99.1%
99.9%
>99.9%
99.6 %
91.7%
99.7 %
96.2%
99.7 %
* As reported in ISCA
database nstd37 [http://dbsearch.clinicalgenome.org/search/ ]
** Sensitivity estimated across the observed size distribution of each syndrome [per ISCA database nstd37] and across the range of fetal fractions observed in routine clinical NIPT. Actual sensitivity can also be
influenced by other factors such as the size of the event, total sequence counts, amplification bias, or sequence bias.
Limitations of the Test
While the results of these tests are highly accurate, discordant results, including inaccurate fetal sex prediction, may occur due to placental, maternal, or fetal mosaicism or neoplasm; vanishing twin; prior maternal
organ transplant; or other causes. Sex chromosomal aneuploidies are not reportable for known multiple gestations. These tests are screening tests and not diagnostic; they do not replace the accuracy and precision
of prenatal diagnosis with CVS or amniocentesis. A patient with a positive test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of test results.[6] A negative
result does not ensure an unaffected pregnancy nor does it exclude the possibility of other chromosomal abnormalities or birth defects which are not a part of these tests. An uninformative result may be reported, the
causes of which may include, but are not limited to, insufficient sequencing coverage, noise or artifacts in the region, amplification or sequencing bias, or insufficient fetal fraction. These tests are not intended to
identify pregnancies at risk for neural tube defects or ventral wall defects. Testing for whole chromosome abnormalities (including sex chromosomes) and for subchromosomal abnormalities could lead to the potential
discovery of both fetal and maternal genomic abnormalities that could have major, minor, or no, clinical significance. Evaluating the significance of a positive or a non-reportable result may involve both invasive testing
and additional studies on the mother. Such investigations may lead to a diagnosis of maternal chromosomal or subchromosomal abnormalities, which on occasion may be associated with benign or malignant
maternal neoplasms. These tests may not accurately identify fetal triploidy, balanced rearrangements, or the precise location of subchromosomal duplications or deletions; these may be detected by prenatal diagnosis
with CVS or amniocentesis. The ability to report results may be impacted by maternal BMI, maternal weight, maternal systemic lupus erythematosus (SLE) and/or by certain pharmaceutical agents such as low
molecular weight heparin (for example: Lovenox
®, Xaparin®, Clexane® and Fragmin®). The results of this testing, including the benefits and limitations, should be discussed with a qualified healthcare provider.
Pregnancy management decisions, including termination of the pregnancy, should not be based on the results of these tests alone. The healthcare provider is responsible for the use of this information in the
management of their patient.
Note
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration. This laboratory is certified under the Clinical Laboratory
Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing and accredited by the College of American Pathologists (CAP).
References
1. Snijders RJ, et al. Ultrasound Obstet. 1999;13(3):167-170.
2. Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
3. Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
4. Zhao C, et al. Clin Chem. 2015 Apr;61(4):608-616.
5. Palomaki GE, et al. Genet Med. 2011;13(11):913-920.
6. ACOG/SMFM Joint Committee Opinion No. 545, Dec 2012.
Eyad Almasri, MD, PhD
Director, Sequenom Laboratories
01/27/2020
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 2 of 2
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom. ©2020 Sequenom Laboratories.
rep-1404-v1-11
19 | 22065-1119-1
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Ordering Provider:
Provider Location:
Provider Phone:
Date Ordered:
Date Collected:
Date Received:
Order ID:
Patient ID:
Last, First
Patient:
DOB:
Specimen:
Fetal Fraction:
Gestational Age ≥ 9w:
External Accession:
Referral Clinician:
Date Reported:
01/10/2020 01:22 PM PT
MaterniT® 21 PLUS (Core)
Singleton Gestation
Last, First
Sequenom SD
09/24/2019
09/24/2019
09/24/2019
xxx1234567
1234567890
mm/dd/year
1234567890
7%
Yes
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 5
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:51 AM PT
MaterniT® 21 PLUS (Core)
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Last, First
Sequenom SD
09/24/2019
09/24/2019
09/24/2019
xxx1234567
1234567890
7%
Yes
Test Result
Negative
Lab Director Comments
This specimen showed an expected representation of chromosome 21, 18 and 13 material. Clinical correlation is suggested.
Result Table
Content
Result
FETAL SEX
Male
AUTOSOMAL ANEUPLOIDIES
Trisomy 21 (Down syndrome)
Negative
Trisomy 18 (Edwards syndrome)
Negative
Trisomy 13 (Patau syndrome)
Negative
Negative Predictive Value
The Negative Predictive Value (NPV) for trisomy 21, 18, and 13 is greater than 99%. The NPV for SCA and ESS cannot be calculated as SCA and ESS are only reported when an abnormality is detected.
About the Test
The MaterniT
® 21 PLUS laboratory-developed test (LDT) analyzes circulating cell-free DNA from a maternal blood sample. The test is indicated for use in pregnant women with increased risk for fetal chromosomal
aneuploidy. Validation data on twin pregnancies is limited and the ability of this test to detect aneuploidy in a triplet pregnancy has not
yet been validated.
Test Method
Circulating cell-free DNA was purified from the plasma component of maternal blood. The extracted DNA
was then converted into a genomic DNA library for aneuploidy analysis of chromosomes 21, 18, and 13 via
next generation sequencing.[1] Optional findings based on the test order include sex chromosome aneuploidy (SCA)[2], and enhanced sequencing series (ESS)[3], which will only be reported on as an additional
finding when an abnormality is detected. SCA testing includes information on X and Y representation, while ESS testing includes deletions in selected regions (22q, 15q, 11q, 8q, 5p, 4p, 1p) and trisomy of
chromosomes 16 and 22.
Performance
The performance characteristics of the MaterniT
® 21 PLUS laboratory-developed test (LDT) have been determined in a clinical validation study with pregnant women at increased risk for fetal chromosomal aneuploidy.
[1],[2],[3],[4]
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 1 of 3
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-1119|22065-
1119-1
Order ID: xxx1234567
Last, First
mm/dd/year
1234567890
Last, First
MaterniT NIPT Sample Lab Reports | 6
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:51 AM PT
MaterniT® 21 PLUS (Core)
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Last, First
Sequenom SD
09/24/2019
09/24/2019
09/24/2019
xxx1234567
1234567890
7%
Yes
Accuracy: 99.4%
Estimated Sensitivity**
Estimated Specificity
99.1%
99.9%
>99.9%
99.6%
91.7%
99.7%
96.2%
99.7%
* As reported in ISCA
database nstd37 - http://dbsearch.clinicalgenome.org/search/
** Sensitivity estimated across the observed size distribution of each syndrome [per ISCA database nstd37] and across the range of fetal fractions observed in routine clinical NIPT. Actual sensitivity can also be
influenced by other factors such as the size of the event, total sequence counts, amplification bias, or sequence bias.
Limitations of the Test
While the results of these tests are highly accurate, discordant results, including inaccurate fetal sex prediction, may occur due to placental, maternal, or fetal mosaicism or neoplasm; vanishing twin; prior maternal
organ transplant; or other causes. Sex chromosomal aneuploidies are not reportable for known multiple gestations. These tests are screening tests and not diagnostic; they do not replace the accuracy and precision
of prenatal diagnosis with CVS or amniocentesis. A patient with a positive test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of test results.[5] A negative
result does not ensure an unaffected pregnancy nor does it exclude the possibility of other chromosomal abnormalities or birth defects which are not a part of these tests. An uninformative result may be reported, the
causes of which may include, but are not limited to, insufficient sequencing coverage, noise or artifacts in the region, amplification or sequencing bias, or insufficient fetal fraction. These tests are not intended to
identify pregnancies at risk for neural tube defects or ventral wall defects. Testing for whole chromosome abnormalities (including sex chromosomes) and for subchromosomal abnormalities could lead to the potential
discovery of both fetal and maternal genomic abnormalities that could have major, minor, or no, clinical significance. Evaluating the significance of a positive or a non-reportable result may involve both invasive testing
and additional studies on the mother. Such investigations may lead to a diagnosis of maternal chromosomal or subchromosomal abnormalities, which on occasion may be associated with benign or malignant
maternal neoplasms. These tests may not accurately identify fetal triploidy, balanced rearrangements, or the precise location of subchromosomal duplications or deletions; these may be detected by prenatal diagnosis
with CVS or amniocentesis. The ability to report results may be impacted by maternal BMI, maternal weight, maternal systemic lupus erythematosus (SLE) and/or by certain pharmaceutical agents such as low
molecular weight heparin (for example: Lovenox
®, Xaparin®, Clexane® and Fragmin®). The results of this testing, including the benefits and limitations, should be discussed with a qualified healthcare provider.
Pregnancy management decisions, including termination of the pregnancy, should not be based on the results of these tests alone. The healthcare provider is responsible for the use of this information in the
management of their patient.
Note
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration. This laboratory is certified under the Clinical Laboratory
Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing and accredited by the College of American Pathologists (CAP).
All previously submitted samples were used in generating the MaterniT® 21 PLUS result. If there is future clinical need for adding on MaterniT® GENOME testing, a redraw will need to be submitted at that time.
References
1. Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
2. Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
3. Zhao C, et al. Clin Chem. 2015 Apr;61(4):608-616.
4. Palomaki GE, et al. Genet Med. 2011;13(11):913-920.
5. ACOG/SMFM Joint Committee Opinion No. 545, Dec 2012.
Eyad Almasri, MD, PhD
Director, Sequenom Laboratories
01/10/2020
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 2 of 3
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-11
19|22065-1119-1
Order ID: xxx1234567
Last, First
mm/dd/year
1234567890
Last, First
MaterniT NIPT Sample Lab Reports | 7
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:51 AM PT
MaterniT® 21 PLUS (Core)
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Last, First
Sequenom SD
09/24/2019
09/24/2019
09/24/2019
xxx1234567
1234567890
7%
Yes
Thank you for selecting MaterniT
® 21 PLUS for your cfDNA/NIPT screening needs.
All previously submitted samples were used in generating the MaterniT
® 21 PLUS result. If there is future clinical need for
adding on MaterniT
® GENOME testing, a redraw will need to be submitted at that time.
Please keep this page with the patient
’s file and use it as your test request form to order re -sequencing as needed. (Fax#:
858.202.9108)
RE-SEQUENCING PATHWAY FROM MaterniT® 21 PLUS FOR SUSPECTED HIGH RISK
SPECIMENS (LCA Test Code: 452114)
Fetal anomaly suspected. Re-sequence using MaterniT® GENOME.
Medical Indicaton: ___________________________________________________________
Referring Clinician: ________________________________ Fax: (_____) _____ - _____
Contact Integrated Genetics Client Services at 877.821.7266 for any questions regarding
re-sequencing, or to place your order.
MaterniT® GENOME assay is not validated for multifetal gestations; multifetal samples are excluded from the
resequencing pathway.
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 3 of 3
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories. rep-1404-v1-1119|22065-1119-1
Order ID: xxx1234567
Last, First
mm/dd/year
1234567890
Last, First
MaterniT NIPT Sample Lab Reports | 8
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Last, First
Date Reported:
01/10/2020 02:24 PM PT
MaterniT® 21 PLUS (Core) + SCA
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Last, First
Sequenom SD
10/02/2018
10/02/2018
10/02/2018
xxx1234567
1234567890
mm/dd/year
1234567890
7%
Yes
Test Result
Triple X syndrome
Additional Finding Detected
Lab Director Comments
These findings are suggestive of a 47,XXX chromosomal aneuploidy, such as may be found in pregnancies with Triple X syndrome .
Result Table
Content
Result
FETAL SEX
Female
AUTOSOMAL ANEUPLOIDIES
Trisomy 21 (Down syndrome)
Negative
Trisomy 18 (Edwards syndrome)
Negative
Trisomy 13 (Patau syndrome)
Negative
SEX CHROMOSOME ANEUPLOIDIES
Monosomy X (Turner syndrome)
Not Detected
XYY (Jacobs syndrome)
Not Detected
XXY (Klinefelter syndrome)
Not Detected
XXX (Triple X syndrome)
Detected
Negative Predictive V
alue
The Negative Predictive Value
(NPV) for trisomy 21, 18, and 13 is greater than 99%. The NPV for SCA and ESS cannot be calculated as SCA and ESS are only reported when an abnormality is detected.
About the Test
The MaterniT
® 21 PLUS laboratory-developed test (LDT) analyzes circulating cell-free DNA from a maternal blood sample. The test is indicated for use in pregnant women with increased risk for fetal chromosomal
aneuploidy. Validation data on twin pregnancies is limited and the ability of this test to detect aneuploidy in a triplet pregnancy has not yet been validated.
Test Method
Circulating cell-free DNA was purified from the plasma component of maternal blood. The extracted DNA
was then converted into a genomic DNA library for aneuploidy analysis of chromosomes 21, 18, and 13 via
next generation sequencing.[1] Optional findings based on the test order include sex chromosome aneuploidy (SCA)[2], and enhanced sequencing series (ESS)[3], which will only be reported on as an additional
finding when an abnormality is detected. SCA testing includes information on X and Y representation, while ESS testing includes deletions in selected regions (22q, 15q, 11q, 8q, 5p, 4p, 1p) and trisomy of
chromosomes 16 and 22.
Performance
The performance characteristics of the MaterniT
® 21 PLUS laboratory-developed test (LDT) have been determined in a clinical validation study with pregnant women at increased risk for fetal chromosomal aneuploidy.
[1],[2],[3],[4]
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 1 of 2
Order ID: xxx1234567Last, First
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories. rep-1404-v1-1119|22065-1119-1
MaterniT NIPT Sample Lab Reports | 9
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
MaterniT® 21 PLUS (Core) + SCA
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Accuracy: 99.4%
Estimated Sensitivity**
Estimated Specificity
99.1%
99.9%
>99.9%
99.6%
91.7%
99.7%
96.2%
99.7%
* As reported in ISCA
database nstd37 - http://dbsearch.clinicalgenome.org/search/
** Sensitivity estimated across the observed size distribution of each syndrome [per ISCA database nstd37] and across the range of fetal fractions observed in routine clinical NIPT. Actual sensitivity can also be
influenced by other factors such as the size of the event, total sequence counts, amplification bias, or sequence bias.
Limitations of the Test
While the results of these tests are highly accurate, discordant results, including inaccurate fetal sex prediction, may occur due to placental, maternal, or fetal mosaicism or neoplasm; vanishing twin; prior maternal
organ transplant; or other causes. Sex chromosomal aneuploidies are not reportable for known multiple gestations. These tests are screening tests and not diagnostic; they do not replace the accuracy and precision
of prenatal diagnosis with CVS or amniocentesis. A patient with a positive test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of test results.[5] A negative
result does not ensure an unaffected pregnancy nor does it exclude the possibility of other chromosomal abnormalities or birth defects which are not a part of these tests. An uninformative result may be reported, the
causes of which may include, but are not limited to, insufficient sequencing coverage, noise or artifacts in the region, amplification or sequencing bias, or insufficient fetal fraction. These tests are not intended to
identify pregnancies at risk for neural tube defects or ventral wall defects. Testing for whole chromosome abnormalities (including sex chromosomes) and for subchromosomal abnormalities could lead to the potential
discovery of both fetal and maternal genomic abnormalities that could have major, minor, or no, clinical significance. Evaluating the significance of a positive or a non-reportable result may involve both invasive testing
and additional studies on the mother. Such investigations may lead to a diagnosis of maternal chromosomal or subchromosomal abnormalities, which on occasion may be associated with benign or malignant
maternal neoplasms. These tests may not accurately identify fetal triploidy, balanced rearrangements, or the precise location of subchromosomal duplications or deletions; these may be detected by prenatal diagnosis
with CVS or amniocentesis. The ability to report results may be impacted by maternal BMI, maternal weight, maternal systemic lupus erythematosus (SLE) and/or by certain pharmaceutical agents such as low
molecular weight heparin (for example: Lovenox
®, Xaparin®, Clexane® and Fragmin®). The results of this testing, including the benefits and limitations, should be discussed with a qualified healthcare provider.
Pregnancy management decisions, including termination of the pregnancy, should not be based on the results of these tests alone. The healthcare provider is responsible for the use of this information in the
management of their patient.
Note
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration. This laboratory is certified under the Clinical Laboratory
Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing and accredited by the College of American Pathologists (CAP).
References
1. Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
2. Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
3. Zhao C, et al. Clin Chem. 2015 Apr;61(4):608-616.
4. Palomaki GE, et al. Genet Med. 2011;13(11):913-920.
5. ACOG/SMFM Joint Committee Opinion No. 545, Dec 2012.
Eyad Almasri, MD, PhD
Director, Sequenom Laboratories
01/10/2020
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 2 of 2
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories. rep-1404-v1-1119|22065-1119-1
Last, First
01/10/2020 02:24 PM PT
Last, First
Sequenom SD
10/02/2018
10/02/2018
10/02/2018
xxx1234567
1234567890
mm/dd/year
1234567890
7%
Yes
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 10
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
MaterniT® 21 PLUS (Core) + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Last, First
UT MFM Katy
12/12/2017
12/10/2017
12/12/2017
xxx1234567
1234567890
Last, First
mm/dd/year
1234567890
8%
Yes
01/10/2020 02:26 PM PT
Test Result
Negative
Lab Director Comments
This specimen showed an expected representation of chromosome 21, 18 and 13 material. Clinical correlation is suggested.
Result Table
Content
Result
FETAL SEX
Male
AUTOSOMAL ANEUPLOIDIES
Trisomy 21 (Down syndrome)
Negative
Trisomy 18 (Edwards syndrome)
Negative
Trisomy 13 (Patau syndrome)
Negative
SELECT MICRODELETIONS
22q11 deletion (associated with DiGeorge syndrome)
Not Detected
15q11 deletion (associated with Prader-Willi / Angelman syndrome)
Not Detected
11q23 deletion (associated with Jacobsen syndrome)
Not Detected
8q24 deletion (associated with Langer-Giedion syndrome)
Not Detected
5p15 deletion (associated with Cri-du-chat syndrome)
Not Detected
4p16 deletion (associated with Wolf-Hirschhorn syndrome)
Not Detected
1p36 deletion syndrome
Not Detected
Trisomy 16
Not Detected
Trisomy 22
Not Detected
Negative Predictive Value
The Negative Predictive Value (NPV) for trisomy 21, 18, and 13 is greater than 99%. The NPV for SCA and ESS cannot be calculated as SCA and ESS are only reported when an abnormality is detected.
About the Test
The MaterniT
® 21 PLUS laboratory-developed test (LDT) analyzes circulating cell-free DNA from a maternal blood sample. The test is indicated for use in pregnant women with increased risk for fetal chromosomal
aneuploidy. Validation data on twin pregnancies is limited and the ability of this test to detect aneuploidy in a triplet pregnancy has not
yet been validated.
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 1 of 3
Order ID: xxx1234567Last, First
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories. rep-1404-v1-1119|22065-1119-1
MaterniT NIPT Sample Lab Reports | 11
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
MaterniT® 21 PLUS (Core) + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Test Method
Circulating cell-free DNA was purified from the plasma component of maternal blood
. The extracted DNA was then converted into a genomic DNA library for aneuploidy analysis of chromosomes 21, 18, and 13 via
next generation sequencing.[1] Optional findings based on the test order include sex chromosome aneuploidy (SCA)[2], and enhanced sequencing series (ESS)[3], which will only be reported on as an additional
finding when an abnormality is detected. SCA testing includes information on X and Y representation, while ESS testing includes deletions in selected regions (22q, 15q, 11q, 8q, 5p, 4p, 1p) and trisomy of
chromosomes 16 and 22.
Performance
The performance characteristics of the MaterniT
® 21 PLUS laboratory-developed test (LDT) have been determined in a clinical validation study with pregnant women at increased risk for fetal chromosomal aneuploidy.
[1],[2],[3],[4]
Accuracy: 99.4%
Estimated Sensitivity**
Estimated Specificity
99.1%
99.9%
>99.9%
99.6%
91.7%
99.7%
96.2%
99.7%
* As reported in ISCA database nstd
37 - http://dbsearch.clinicalgenome.org/search/
** Sensitivity estimated across the observed size distribution of each syndrome [per ISCA database nstd37] and across the range of fetal fractions observed in routine clinical NIPT. Actual sensitivity can also be
influenced by other factors such as the size of the event, total sequence counts, amplification bias, or sequence bias.
Limitations of the Test
While the results of these tests are highly accurate, discordant results, including inaccurate fetal sex prediction, may occur due to placental, maternal, or fetal mosaicism or neoplasm; vanishing twin; prior maternal
organ transplant; or other causes. Sex chromosomal aneuploidies are not reportable for known multiple gestations. These tests are screening tests and not diagnostic; they do not replace the accuracy and precision
of prenatal diagnosis with CVS or amniocentesis. A patient with a positive test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of test results.[5] A negative
result does not ensure an unaffected pregnancy nor does it exclude the possibility of other chromosomal abnormalities or birth defects which are not a part of these tests. An uninformative result may be reported, the
causes of which may include, but are not limited to, insufficient sequencing coverage, noise or artifacts in the region, amplification or sequencing bias, or insufficient fetal fraction. These tests are not intended to
identify pregnancies at risk for neural tube defects or ventral wall defects. Testing for whole chromosome abnormalities (including sex chromosomes) and for subchromosomal abnormalities could lead to the potential
discovery of both fetal and maternal genomic abnormalities that could have major, minor, or no, clinical significance. Evaluating the significance of a positive or a non-reportable result may involve both invasive testing
and additional studies on the mother. Such investigations may lead to a diagnosis of maternal chromosomal or subchromosomal abnormalities, which on occasion may be associated with benign or malignant
maternal neoplasms. These tests may not accurately identify fetal triploidy, balanced rearrangements, or the precise location of subchromosomal duplications or deletions; these may be detected by prenatal diagnosis
with CVS or amniocentesis. The ability to report results may be impacted by maternal BMI, maternal weight, maternal systemic lupus erythematosus (SLE) and/or by certain pharmaceutical agents such as low
molecular weight heparin (for example: Lovenox
®, Xaparin®, Clexane® and Fragmin®). The results of this testing, including the benefits and limitations, should be discussed with a qualified healthcare provider.
Pregnancy management decisions, including termination of the pregnancy, should not be based on the results of these tests alone. The healthcare provider is responsible for the use of this information in the
management of their patient.
Note
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration. This laboratory is certified under the Clinical Laboratory
Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing and accredited by the College of American Pathologists (CAP).
All previously submitted samples were used in generating the MaterniT® 21 PLUS result. If there is future clinical need for adding on MaterniT® GENOME testing, a redraw will need to be submitted at that time.
References
1. Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
2. Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
3. Zhao C, et al. Clin Chem. 2015 Apr;61(4):608-616.
4. Palomaki GE, et al. Genet Med. 2011;13(11):913-920.
5. ACOG/SMFM Joint Committee Opinion No. 545, Dec 2012.
Eyad Almasri, MD, PhD
Director, Sequenom Laboratories
01/10/2020
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 2 of 3
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-1119
|22065-1119-1
Last, First
UT MFM Katy
12/12/2017
12/10/2017
12/12/2017
xxx1234567
1234567890
Last, First
mm/dd/year
1234567890
8%
Yes
01/10/2020 02:26 PM PT
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 12
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
MaterniT® 21 PLUS (Core) + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Thank you for selecting MaterniT
® 21 PLUS for your cfDNA/NIPT screening needs.
All previously submitted samples were used in generating the MaterniT
® 21 PLUS result. If there is future clinical need for
adding on MaterniT
® GENOME testing, a redraw will need to be submitted at that time.
Please keep this page with the patient’s file and use it as your test request form to order re -sequencing as needed. (Fax#:
858.202.9108)
RE-SEQUENCING PATHWAY FROM MaterniT® 21 PLUS FOR SUSPECTED HIGH RISK
SPECIMENS (LCA Test Code: 452114)
Fetal anomaly suspected. Re-sequence using MaterniT® GENOME.
Medical Indicaton: ___________________________________________________________
Referring Clinician: ________________________________ Fax: (_____) _____ - _____
Contact Integrated Genetics Client Services at 877.821.7266 for any questions regarding
re-sequencing, or to place your order.
MaterniT® GENOME assay is not validated for multifetal gestations; multifetal samples are excluded from the
resequencing pathway.
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 3 of 3
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-11
19|22065-1119-1
Last, First
UT MFM Katy
12/12/2017
12/10/2017
12/12/2017
xxx1234567
1234567890
Last, First
mm/dd/year
1234567890
8%
Yes
01/10/2020 02:26 PM PT
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 13
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
MaterniT® 21 PLUS (Core) + ESS
Twin Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Last, First
UT MFM Katy
832-325-7137
12/12/2017
12/10/2017
12/12/2017
xxx1234567
1234567890
Last, First
mm/dd/year
1234567890
8%
Yes
01/10/2020 02:25 PM PT
Test Result
1p36 deletion
Additional Finding Detected
Lab Director Comments
These findings are suggestive of 1p36 deletion syndrome. 1p36 deletion syndrome (monosomy 1p36 syndrome) is characterized by a deletion on
the short arm of chromosome 1. The disorder is characterized by dysmorphic craniofacial features, developmental delay, brain abnormalities,
short feet, congenital heart defects, hypotonia, and brachy/camptodactyly. This condition is more common in females and incidence is ~1 in
10,000. Recurrence risk depends on the origin of the deletion. In 20% of affected individuals, the deletion is inherited from an unaffected parent .
Most cases are not inherited (de novo).
Result Table
Content
Result
FETAL SEX
Male
AUTOSOMAL ANEUPLOIDIES
Trisomy 21 (Down syndrome)
Negative
Trisomy 18 (Edwards syndrome)
Negative
Trisomy 13 (Patau syndrome)
Negative
SELECT MICRODELETIONS
22q11 deletion (associated with DiGeorge syndrome)
Not Detected
15q11 deletion (associated with Prader-Willi / Angelman syndrome)
Not Detected
11q23 deletion (associated with Jacobsen syndrome)
Not Detected
8q24 deletion (associated with Langer-Giedion syndrome)
Not Detected
5p15 deletion (associated with Cri-du-chat syndrome)
Not Detected
4p16 deletion (associated with Wolf-Hirschhorn syndrome)
Not Detected
1p36 deletion syndrome
Detected
Trisomy 16
Not Detected
Trisomy 22
Not Detected
Negative Predictive Value
The Negative Predictive Value (NPV) for trisomy 21, 18, and 13 is greater than 99%. The NPV for SCA and ESS cannot be calculated as SCA and ESS are only reported when an abnormality is detected.
About the Test
The MaterniT
® 21 PLUS laboratory-developed test (LDT) analyzes circulating cell-free DNA from a maternal blood sample. The test is indicated for use in pregnant women with increased risk for fetal chromosomal
aneuploidy. Validation data on twin pregnancies is limited and the ability of this test to detect aneuploidy in a triplet pregnancy has not yet been validated.
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 1 of 2
Order ID: xxx1234567Last, First
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories. rep-1404-v1-1119|22065-1119-1
MaterniT NIPT Sample Lab Reports | 14
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
MaterniT® 21 PLUS (Core) + ESS
Twin Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
UT MFM Katy
832-325-7137
12/12/2017
12/10/2017
12/12/2017
xxx1234567
1234567890
mm/dd/year
1234567890
8%
Yes
01/10/2020 02:25 PM PT
Test Method
Circulating cell-free DNA was purified from the plasma component of maternal blood
. The extracted DNA was then converted into a genomic DNA library for aneuploidy analysis of chromosomes 21, 18, and 13 via
next generation sequencing.[1] Optional findings based on the test order include sex chromosome aneuploidy (SCA)[2], and enhanced sequencing series (ESS)[3], which will only be reported on as an additional
finding when an abnormality is detected. SCA testing includes information on X and Y representation, while ESS testing includes deletions in selected regions (22q, 15q, 11q, 8q, 5p, 4p, 1p) and trisomy of
chromosomes 16 and 22.
Performance
The performance characteristics of the MaterniT
® 21 PLUS laboratory-developed test (LDT) have been determined in a clinical validation study with pregnant women at increased risk for fetal chromosomal aneuploidy.
[1],[2],[3],[4]
Accuracy: 99.4%
Estimated Sensitivity**
Estimated Specificity
99.1%
99.9%
>99.9%
99.6%
91.7%
99.7%
96.2%
99.7%
* As reported in ISCA database nstd
37 - http://dbsearch.clinicalgenome.org/search/
** Sensitivity estimated across the observed size distribution of each syndrome [per ISCA database nstd37] and across the range of fetal fractions observed in routine clinical NIPT. Actual sensitivity can also be
influenced by other factors such as the size of the event, total sequence counts, amplification bias, or sequence bias.
Limitations of the Test
While the results of these tests are highly accurate, discordant results, including inaccurate fetal sex prediction, may occur due to placental, maternal, or fetal mosaicism or neoplasm; vanishing twin; prior maternal
organ transplant; or other causes. Sex chromosomal aneuploidies are not reportable for known multiple gestations. These tests are screening tests and not diagnostic; they do not replace the accuracy and precision
of prenatal diagnosis with CVS or amniocentesis. A patient with a positive test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of test results.[5] A negative
result does not ensure an unaffected pregnancy nor does it exclude the possibility of other chromosomal abnormalities or birth defects which are not a part of these tests. An uninformative result may be reported, the
causes of which may include, but are not limited to, insufficient sequencing coverage, noise or artifacts in the region, amplification or sequencing bias, or insufficient fetal fraction. These tests are not intended to
identify pregnancies at risk for neural tube defects or ventral wall defects. Testing for whole chromosome abnormalities (including sex chromosomes) and for subchromosomal abnormalities could lead to the potential
discovery of both fetal and maternal genomic abnormalities that could have major, minor, or no, clinical significance. Evaluating the significance of a positive or a non-reportable result may involve both invasive testing
and additional studies on the mother. Such investigations may lead to a diagnosis of maternal chromosomal or subchromosomal abnormalities, which on occasion may be associated with benign or malignant
maternal neoplasms. These tests may not accurately identify fetal triploidy, balanced rearrangements, or the precise location of subchromosomal duplications or deletions; these may be detected by prenatal diagnosis
with CVS or amniocentesis. The ability to report results may be impacted by maternal BMI, maternal weight, maternal systemic lupus erythematosus (SLE) and/or by certain pharmaceutical agents such as low
molecular weight heparin (for example: Lovenox
®, Xaparin®, Clexane® and Fragmin®). The results of this testing, including the benefits and limitations, should be discussed with a qualified healthcare provider.
Pregnancy management decisions, including termination of the pregnancy, should not be based on the results of these tests alone. The healthcare provider is responsible for the use of this information in the
management of their patient.
Note
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration. This laboratory is certified under the Clinical Laboratory
Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing and accredited by the College of American Pathologists (CAP).
References
1. Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
2. Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
3. Zhao C, et al. Clin Chem. 2015 Apr;61(4):608-616.
4. Palomaki GE, et al. Genet Med. 2011;13(11):913-920.
5. ACOG/SMFM Joint Committee Opinion No. 545, Dec 2012.
Eyad Almasri, MD, PhD
Director, Sequenom Laboratories
01/10/2020
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 2 of 2
Order ID: xxx1234567Last, First
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories. rep-1404-v1-1119|22065-1119-1
Last, First
Last, First
MaterniT NIPT Sample Lab Reports | 15
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:43 AM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Test Result
Trisomy 21
Positive
Lab Director Comments
This specimen showed an increased amount of chromosome 21 material (trisomy 21), such as may be found in pregnancies with Down
syndrome.
.
Result Table
Content
Result
FETAL SEX
Male
AUTOSOMAL ANEUPLOIDIES
Trisomy 21 (Down syndrome)
Positive T21 PPV*: 96.4%
Trisomy 18 (Edwards syndrome)
Negative
Trisomy 13 (Patau syndrome)
Negative
SEX CHROMOSOME ANEUPLOIDIES
Monosomy X (Turner syndrome)
Not Detected
XYY (Jacobs syndrome)
Not Detected
XXY (Klinefelter syndrome)
Not Detected
XXX (Triple X syndrome)
Not Detected
SELECT MICRODELETIONS
22q11 deletion (associated with DiGeorge syndrome)
Not Detected
15q11 deletion (associated with Prader-Willi / Angelman syndrome)
Not Detected
11q23 deletion (associated with Jacobsen syndrome)
Not Detected
8q24 deletion (associated with Langer-Giedion syndrome)
Not Detected
5p15 deletion (associated with Cri-du-chat syndrome)
Not Detected
4p16 deletion (associated with Wolf-Hirschhorn syndrome)
Not Detected
1p36 deletion syndrome
Not Detected
Trisomy 16
Not Detected
Trisomy 22
Not Detected
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 1 of 3
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-1119|22065-1
119-1
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
mm/dd/year
1234567890
6%
Yes
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 16
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:43 AM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Negative Predictive Value
The Negative Predictive
Value (NPV) for trisomy 21, 18, and 13 is greater than 99%. The NPV for SCA and ESS cannot be calculated as SCA and ESS are only reported when an abnormality is detected.
Positive Predictive Value
* Positive Predictive Value (PPV) estimates the probability that a pregnancy with a positive test result is in fact an affected pregnancy. The PPV for this patient was calculated only using maternal age and gestational
age[1], test performance[3] and the standard PPV formula.
For a more accurate and individualized PPV calculation, include additional clinical information from the patient
’s clinical history (which may include serum screen results, personal/family history, ultrasound findings,
etc.), and refer to the table below.
A Priori Risk
(1:X)
10
20
30
40
50
100
200
300
400
500
1000
1500
2000
2500
3000
5000
PPV (%)
TRISOMY 21
99.1
98.1
97.2
96.2
95.3
90.9
83.3
76.8
71.3
66.5
49.8
39.8
33.1
28.4
24.8
16.5
About the Test
The MaterniT
® 21 PLUS laboratory-developed test (LDT) analyzes circulating cell-free DNA from a maternal blood sample. The test is indicated for use in pregnant women with increased risk for fetal chromosomal
aneuploidy. Validation data on twin pregnancies is limited and the ability of this test to detect aneuploidy in a triplet pregnancy has not yet been validated.
Test Method
Circulating cell-free DN
A was purified from the plasma component of maternal blood. The extracted DNA was then converted into a genomic DNA library for aneuploidy analysis of chromosomes 21, 18, and 13 via
next generation sequencing.[2] Optional findings based on the test order include sex chromosome aneuploidy (SCA)[3], and enhanced sequencing series (ESS)[4], which will only be reported on as an additional
finding when an abnormality is detected. SCA testing includes information on X and Y representation, while ESS testing includes deletions in selected regions (22q, 15q, 11q, 8q, 5p, 4p, 1p) and trisomy of
chromosomes 16 and 22.
Performance
The performance characteristics of the MaterniT
® 21 PLUS laboratory-developed test (LDT) have been determined in a clinical validation study with pregnant women at increased risk for fetal chromosomal aneuploidy.
[2],[3],[4],[5]
Accuracy: 99.4%
Estimated Sensitivity**
Estimated Specificity
99.1%
99.9%
>99.9%
99.6%
91.7%
99.7%
96.2%
99.7%
* As reported in ISC
A database nstd37 - http://dbsearch.clinicalgenome.org/search/
** Sensitivity estimated across the observed size distribution of each syndrome [per ISCA database nstd37] and across the range of fetal fractions observed in routine clinical NIPT. Actual sensitivity can also be
influenced by other factors such as the size of the event, total sequence counts, amplification bias, or sequence bias.
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 2 of 3
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-1
119|22065-1119-1
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
mm/dd/year
1234567890
6%
Yes
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 17
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:43 AM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Limitations of the Test
While the results of these tests are highly accurate, discordant results, including inaccurate fetal sex prediction, may occur due to placental, maternal, or fetal mosaicism or neoplasm; vanishing twin; prior maternal
organ transplant; or other causes. Sex chromosomal aneuploidies are not reportable for known multiple gestations. These tests are screening tests and not diagnostic; they do not replace the accuracy and precision
of prenatal diagnosis with CVS or amniocentesis. A
patient with a positive test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of test results.[6] A negative
result does not ensure an unaffected pregnancy nor does it exclude the possibility of other chromosomal abnormalities or birth defects which are not a part of these tests. An uninformative result may be reported, the
causes of which may include, but are not limited to, insufficient sequencing coverage, noise or artifacts in the region, amplification or sequencing bias, or insufficient fetal fraction. These tests are not intended to
identify pregnancies at risk for neural tube defects or ventral wall defects. Testing for whole chromosome abnormalities (including sex chromosomes) and for subchromosomal abnormalities could lead to the potential
discovery of both fetal and maternal genomic abnormalities that could have major, minor, or no, clinical significance. Evaluating the significance of a positive or a non-reportable result may involve both invasive testing
and additional studies on the mother. Such investigations may lead to a diagnosis of maternal chromosomal or subchromosomal abnormalities, which on occasion may be associated with benign or malignant
maternal neoplasms. These tests may not accurately identify fetal triploidy, balanced rearrangements, or the precise location of subchromosomal duplications or deletions; these may be detected by prenatal diagnosis
with CVS or amniocentesis. The ability to report results may be impacted by maternal BMI, maternal weight, maternal systemic lupus erythematosus (SLE) and/or by certain pharmaceutical agents such as low
molecular weight heparin (for example: Lovenox
®, Xaparin®, Clexane® and Fragmin®). The results of this testing, including the benefits and limitations, should be discussed with a qualified healthcare provider.
Pregnancy management decisions, including termination of the pregnancy, should not be based on the results of these tests alone. The healthcare provider is responsible for the use of this information in the
management of their patient.
Note
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration. This laboratory is certified under the Clinical Laboratory
Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing and accredited by the College of American Pathologists (CAP).
References
1. Snijders RJ, et al. Ultrasound Obstet. 1999;13(3):167-170.
2. Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
3. Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
4. Zhao C, et al. Clin Chem. 2015 Apr;61(4):608-616.
5. Palomaki GE, et al. Genet Med. 2011;13(11):913-920.
6. ACOG/SMFM Joint Committee Opinion No. 545, Dec 2012.
Eyad Almasri, MD, PhD
Director, Sequenom Laboratories
01/10/2020
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 3 of 3
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-1
119|22065-1119-1
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
mm/dd/year
1234567890
6%
Yes
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 18
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:45 AM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Test Result
Trisomy 18
Positive
Lab Director Comments
This specimen showed an increased amount of chromosome 18 material (trisomy 18), such as may be found in pregnancies with Edwards
syndrome.
Result Table
Content
Result
FETAL SEX
Male
AUTOSOMAL ANEUPLOIDIES
Trisomy 21 (Down syndrome)
Negative
Trisomy 18 (Edwards syndrome)
Positive T18 PPV*: 74%
Trisomy 13 (Patau syndrome)
Negative
SEX CHROMOSOME ANEUPLOIDIES
Monosomy X (Turner syndrome)
Not Detected
XYY (Jacobs syndrome)
Not Detected
XXY (Klinefelter syndrome)
Not Detected
XXX (Triple X syndrome)
Not Detected
SELECT MICRODELETIONS
22q11 deletion (associated with DiGeorge syndrome)
Not Detected
15q11 deletion (associated with Prader-Willi / Angelman syndrome)
Not Detected
11q23 deletion (associated with Jacobsen syndrome)
Not Detected
8q24 deletion (associated with Langer-Giedion syndrome)
Not Detected
5p15 deletion (associated with Cri-du-chat syndrome)
Not Detected
4p16 deletion (associated with Wolf-Hirschhorn syndrome)
Not Detected
1p36 deletion syndrome
Not Detected
Trisomy 16
Not Detected
Trisomy 22
Not Detected
Negative Predictive Value
The Negative Predictive Value (NPV) for trisomy 21, 18, and 13 is greater than 99%. The NPV for SCA and ESS cannot be calculated as SCA and ESS are only reported when an abnormality is detected.
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 1 of 3
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-1119
|22065-1119-1
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
mm/dd/year
1234567890
6%
Yes
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 19
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:45 AM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Positive Predictive Value
* Positive Predictive
Value (PPV) estimates the probability that a pregnancy with a positive test result is in fact an affected pregnancy. The PPV for this patient was calculated only using maternal age and gestational
age[1], test performance[3] and the standard PPV formula.
For a more accurate and individualized PPV calculation, include additional clinical information from the patient
’s clinical history (which may include serum screen results, personal/family history, ultrasound findings,
etc.), and refer to the table below.
A Priori Risk
(1:X)
10
20
30
40
50
100
200
300
400
500
1000
1500
2000
2500
3000
5000
PPV (%)
TRISOMY 18
96.5
92.9
89.6
86.5
83.6
71.6
55.7
45.5
38.5
33.4
20.0
14.3
11.1
9.1
7.7
4.8
About the Test
The MaterniT
® 21 PLUS laboratory-developed test (LDT) analyzes circulating cell-free DNA from a maternal blood sample. The test is indicated for use in pregnant women with increased risk for fetal chromosomal
aneuploidy. Validation data on twin pregnancies is limited and the ability of this test to detect aneuploidy in a triplet pregnancy has not yet been validated.
Test Method
Circulating cell-free DN
A was purified from the plasma component of maternal blood. The extracted DNA was then converted into a genomic DNA library for aneuploidy analysis of chromosomes 21, 18, and 13 via
next generation sequencing.[2] Optional findings based on the test order include sex chromosome aneuploidy (SCA)[3], and enhanced sequencing series (ESS)[4], which will only be reported on as an additional
finding when an abnormality is detected. SCA testing includes information on X and Y representation, while ESS testing includes deletions in selected regions (22q, 15q, 11q, 8q, 5p, 4p, 1p) and trisomy of
chromosomes 16 and 22.
Performance
The performance characteristics of the MaterniT
® 21 PLUS laboratory-developed test (LDT) have been determined in a clinical validation study with pregnant women at increased risk for fetal chromosomal aneuploidy.
[2],[3],[4],[5]
Accuracy: 99.4%
Estimated Sensitivity**
Estimated Specificity
99.1%
99.9%
>99.9%
99.6%
91.7%
99.7%
96.2%
99.7%
* As reported in ISC
A database nstd37 - http://dbsearch.clinicalgenome.org/search/
** Sensitivity estimated across the observed size distribution of each syndrome [per ISCA database nstd37] and across the range of fetal fractions observed in routine clinical NIPT. Actual sensitivity can also be
influenced by other factors such as the size of the event, total sequence counts, amplification bias, or sequence bias.
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 2 of 3
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-1
119|22065-1119-1
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
mm/dd/year
1234567890
6%
Yes
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 20
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:45 AM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Limitations of the Test
While the results of these tests are highly accurate, discordant results, including inaccurate fetal sex prediction, may occur due to placental, maternal, or fetal mosaicism or neoplasm; vanishing twin; prior maternal
organ transplant; or other causes. Sex chromosomal aneuploidies are not reportable for known multiple gestations. These tests are screening tests and not diagnostic; they do not replace the accuracy and precision
of prenatal diagnosis with CVS or amniocentesis. A
patient with a positive test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of test results.[6] A negative
result does not ensure an unaffected pregnancy nor does it exclude the possibility of other chromosomal abnormalities or birth defects which are not a part of these tests. An uninformative result may be reported, the
causes of which may include, but are not limited to, insufficient sequencing coverage, noise or artifacts in the region, amplification or sequencing bias, or insufficient fetal fraction. These tests are not intended to
identify pregnancies at risk for neural tube defects or ventral wall defects. Testing for whole chromosome abnormalities (including sex chromosomes) and for subchromosomal abnormalities could lead to the potential
discovery of both fetal and maternal genomic abnormalities that could have major, minor, or no, clinical significance. Evaluating the significance of a positive or a non-reportable result may involve both invasive testing
and additional studies on the mother. Such investigations may lead to a diagnosis of maternal chromosomal or subchromosomal abnormalities, which on occasion may be associated with benign or malignant
maternal neoplasms. These tests may not accurately identify fetal triploidy, balanced rearrangements, or the precise location of subchromosomal duplications or deletions; these may be detected by prenatal diagnosis
with CVS or amniocentesis. The ability to report results may be impacted by maternal BMI, maternal weight, maternal systemic lupus erythematosus (SLE) and/or by certain pharmaceutical agents such as low
molecular weight heparin (for example: Lovenox
®, Xaparin®, Clexane® and Fragmin®). The results of this testing, including the benefits and limitations, should be discussed with a qualified healthcare provider.
Pregnancy management decisions, including termination of the pregnancy, should not be based on the results of these tests alone. The healthcare provider is responsible for the use of this information in the
management of their patient.
Note
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration. This laboratory is certified under the Clinical Laboratory
Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing and accredited by the College of American Pathologists (CAP).
References
1. Snijders RJ, et al. Fetal Diag. 1995;10(6):356-367.
2. Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
3. Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
4. Zhao C, et al. Clin Chem. 2015 Apr;61(4):608-616.
5. Palomaki GE, et al. Genet Med. 2011;13(11):913-920.
6. ACOG/SMFM Joint Committee Opinion No. 545, Dec 2012.
Eyad Almasri, MD, PhD
Director, Sequenom Laboratories
01/10/2020
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 3 of 3
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-1
119|22065-1119-1
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
mm/dd/year
1234567890
6%
Yes
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 21
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:48 AM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Test Result
Trisomy 16
Additional Finding Detected
Lab Director Comments
These findings are suggestive of trisomy 16. Full trisomy 16 is not compatible with life and is the most common cause of miscarriage. Mosaic
trisomy 16 may present with intrauterine growth restriction, developmental delay, and congenital heart defects.
Result Table
Content
Result
FETAL SEX
Male
AUTOSOMAL ANEUPLOIDIES
Trisomy 21 (Down syndrome)
Negative
Trisomy 18 (Edwards syndrome)
Negative
Trisomy 13 (Patau syndrome)
Negative
SEX CHROMOSOME ANEUPLOIDIES
Monosomy X (Turner syndrome)
Not Detected
XYY (Jacobs syndrome)
Not Detected
XXY (Klinefelter syndrome)
Not Detected
XXX (Triple X syndrome)
Not Detected
SELECT MICRODELETIONS
22q11 deletion (associated with DiGeorge syndrome)
Not Detected
15q11 deletion (associated with Prader-Willi / Angelman syndrome)
Not Detected
11q23 deletion (associated with Jacobsen syndrome)
Not Detected
8q24 deletion (associated with Langer-Giedion syndrome)
Not Detected
5p15 deletion (associated with Cri-du-chat syndrome)
Not Detected
4p16 deletion (associated with Wolf-Hirschhorn syndrome)
Not Detected
1p36 deletion syndrome
Not Detected
Trisomy 16
Detected
Trisomy 22
Not Detected
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 1 of 3
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-11
19|22065-1119-1
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
mm/dd/year
1234567890
6%
Yes
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 22
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:48 AM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Negative Predictive Value
The Negative Predictive
Value (NPV) for trisomy 21, 18, and 13 is greater than 99%. The NPV for SCA and ESS cannot be calculated as SCA and ESS are only reported when an abnormality is detected.
About the Test
The MaterniT
® 21 PLUS laboratory-developed test (LDT) analyzes circulating cell-free DNA from a maternal blood sample. The test is indicated for use in pregnant women with increased risk for fetal chromosomal
aneuploidy. Validation data on twin pregnancies is limited and the ability of this test to detect aneuploidy in a triplet pregnancy has not yet been validated.
Test Method
Circulating cell-free DN
A was purified from the plasma component of maternal blood. The extracted DNA was then converted into a genomic DNA library for aneuploidy analysis of chromosomes 21, 18, and 13 via
next generation sequencing.[1] Optional findings based on the test order include sex chromosome aneuploidy (SCA)[2], and enhanced sequencing series (ESS)[3], which will only be reported on as an additional
finding when an abnormality is detected. SCA testing includes information on X and Y representation, while ESS testing includes deletions in selected regions (22q, 15q, 11q, 8q, 5p, 4p, 1p) and trisomy of
chromosomes 16 and 22.
Performance
The performance characteristics of the MaterniT
® 21 PLUS laboratory-developed test (LDT) have been determined in a clinical validation study with pregnant women at increased risk for fetal chromosomal aneuploidy.
[1],[2],[3],[4]
Accuracy: 99.4%
Estimated Sensitivity**
Estimated Specificity
99.1%
99.9%
>99.9%
99.6%
91.7%
99.7%
96.2%
99.7%
* As reported in ISC
A database nstd37 - http://dbsearch.clinicalgenome.org/search/
** Sensitivity estimated across the observed size distribution of each syndrome [per ISCA database nstd37] and across the range of fetal fractions observed in routine clinical NIPT. Actual sensitivity can also be
influenced by other factors such as the size of the event, total sequence counts, amplification bias, or sequence bias.
Limitations of the Test
While the results of these tests are highly accurate, discordant results, including inaccurate fetal sex prediction, may occur due to placental, maternal, or fetal mosaicism or neoplasm; vanishing twin; prior maternal
organ transplant; or other causes. Sex chromosomal aneuploidies are not reportable for known multiple gestations. These tests are screening tests and not diagnostic; they do not replace the accuracy and precision
of prenatal diagnosis with CVS or amniocentesis. A patient with a positive test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of test results.[5] A negative
result does not ensure an unaffected pregnancy nor does it exclude the possibility of other chromosomal abnormalities or birth defects which are not a part of these tests. An uninformative result may be reported, the
causes of which may include, but are not limited to, insufficient sequencing coverage, noise or artifacts in the region, amplification or sequencing bias, or insufficient fetal fraction. These tests are not intended to
identify pregnancies at risk for neural tube defects or ventral wall defects. Testing for whole chromosome abnormalities (including sex chromosomes) and for subchromosomal abnormalities could lead to the potential
discovery of both fetal and maternal genomic abnormalities that could have major, minor, or no, clinical significance. Evaluating the significance of a positive or a non-reportable result may involve both invasive testing
and additional studies on the mother. Such investigations may lead to a diagnosis of maternal chromosomal or subchromosomal abnormalities, which on occasion may be associated with benign or malignant
maternal neoplasms. These tests may not accurately identify fetal triploidy, balanced rearrangements, or the precise location of subchromosomal duplications or deletions; these may be detected by prenatal diagnosis
with CVS or amniocentesis. The ability to report results may be impacted by maternal BMI, maternal weight, maternal systemic lupus erythematosus (SLE) and/or by certain pharmaceutical agents such as low
molecular weight heparin (for example: Lovenox
®, Xaparin®, Clexane® and Fragmin®). The results of this testing, including the benefits and limitations, should be discussed with a qualified healthcare provider.
Pregnancy management decisions, including termination of the pregnancy, should not be based on the results of these tests alone. The healthcare provider is responsible for the use of this information in the
management of their patient.
Note
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration. This laboratory is certified under the Clinical Laboratory
Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing and accredited by the College of American Pathologists (CAP).
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 2 of 3
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-1
119|22065-1119-1
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
mm/dd/year
1234567890
6%
Yes
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 23
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:48 AM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
References
1. Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
2. Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
3. Zhao C, et al. Clin Chem. 2015 Apr;61(4):608-616.
4. Palomaki GE, et al. Genet Med. 2011;13(11):913-920.
5. ACOG/SMFM Joint Committee Opinion No. 545, Dec 2012.
Eyad Almasri, MD, PhD
Director, Sequenom Laboratories
01/10/2020
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 3 of 3
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-1
119|22065-1119-1
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
mm/dd/year
1234567890
6%
Yes
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 24
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:44 AM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Test Result
Trisomy 21, Trisomy 18
Positive
Lab Director Comments
This specimen showed an increased amount of chromosome 21 material (trisomy 21), such as may be found in pregnancies with Down
syndrome.
.
This specimen showed an increased amount of chromosome 18 material (trisomy 18), such as may be found in pregnancies with Edwards
syndrome.
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 1 of 4
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-1
119|22065-1119-1
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
mm/dd/year
1234567890
6%
Yes
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 25
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:44 AM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Result Table
Content
Result
FETAL SEX
Male
AUTOSOMAL ANEUPLOIDIES
Trisomy 21 (Down syndrome)
Positive T21 PPV*: 96.4%
Trisomy 18 (Edwards syndrome)
Positive T18 PPV*: 74%
Trisomy 13 (Patau syndrome)
Negative
SEX CHROMOSOME ANEUPLOIDIES
Monosomy X (Turner syndrome)
Not Detected
XYY (Jacobs syndrome)
Not Detected
XXY (Klinefelter syndrome)
Not Detected
XXX (Triple X syndrome)
Not Detected
SELECT MICRODELETIONS
22q11 deletion (associated with DiGeorge syndrome)
Not Detected
15q11 deletion (associated with Prader-Willi / Angelman syndrome)
Not Detected
11q23 deletion (associated with Jacobsen syndrome)
Not Detected
8q24 deletion (associated with Langer-Giedion syndrome)
Not Detected
5p15 deletion (associated with Cri-du-chat syndrome)
Not Detected
4p16 deletion (associated with Wolf-Hirschhorn syndrome)
Not Detected
1p36 deletion syndrome
Not Detected
Trisomy 16
Not Detected
Trisomy 22
Not Detected
Negative Predictive Value
The Negative Predictive Value (NPV) for trisomy 21, 18, and 13 is greater than 99%. The NPV for SCA and ESS cannot be calculated as SCA and ESS are only reported when an abnormality is detected.
Positive Predictive Value
* Positive Predictive Value (PPV) estimates the probability that a pregnancy with a positive test result is in fact an affected pregnancy. The PPV for this patient was calculated only using maternal age and gestational
age[1],[2], test performance[4] and the standard PPV formula.
For a more accurate and individualized PPV calculation, include additional clinical information from the patient
’s clinical history (which may include serum screen results, personal/family history, ultrasound findings,
etc.), and refer to the table below.
A Priori Risk
(1:X)
10
20
30
40
50
100
200
300
400
500
1000
1500
2000
2500
3000
5000
PPV (%)
TRISOMY 21
99.1
98.1
97.2
96.2
95.3
90.9
83.3
76.8
71.3
66.5
49.8
39.8
33.1
28.4
24.8
16.5
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 2 of 4
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-11
19|22065-1119-1
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
mm/dd/year
1234567890
6%
Yes
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 26
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:44 AM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
A Priori Risk
(1:X)
10
20
30
40
50
100
200
300
400
500
1000
1500
2000
2500
3000
5000
PPV (%)
TRISOMY 18
96.5
92.9
89.6
86.5
83.6
71.6
55.7
45.5
38.5
33.4
20.0
14.3
11.1
9.1
7.7
4.8
About the Test
The MaterniT
® 21 PLUS laboratory-developed test (LDT) analyzes circulating cell-free DNA from a maternal blood sample. The test is indicated for use in pregnant women with increased risk for fetal chromosomal
aneuploidy. Validation data on twin pregnancies is limited and the ability of this test to detect aneuploidy in a triplet pregnancy has not yet been validated.
Test Method
Circulating cell-free DN
A was purified from the plasma component of maternal blood. The extracted DNA was then converted into a genomic DNA library for aneuploidy analysis of chromosomes 21, 18, and 13 via
next generation sequencing.[3] Optional findings based on the test order include sex chromosome aneuploidy (SCA)[4], and enhanced sequencing series (ESS)[5], which will only be reported on as an additional
finding when an abnormality is detected. SCA testing includes information on X and Y representation, while ESS testing includes deletions in selected regions (22q, 15q, 11q, 8q, 5p, 4p, 1p) and trisomy of
chromosomes 16 and 22.
Performance
The performance characteristics of the MaterniT
® 21 PLUS laboratory-developed test (LDT) have been determined in a clinical validation study with pregnant women at increased risk for fetal chromosomal aneuploidy.
[3],[4],[5],[6]
Accuracy: 99.4%
Estimated Sensitivity**
Estimated Specificity
99.1%
99.9%
>99.9%
99.6%
91.7%
99.7%
96.2%
99.7%
* As reported in ISC
A database nstd37 - http://dbsearch.clinicalgenome.org/search/
** Sensitivity estimated across the observed size distribution of each syndrome [per ISCA database nstd37] and across the range of fetal fractions observed in routine clinical NIPT. Actual sensitivity can also be
influenced by other factors such as the size of the event, total sequence counts, amplification bias, or sequence bias.
Limitations of the Test
While the results of these tests are highly accurate, discordant results, including inaccurate fetal sex prediction, may occur due to placental, maternal, or fetal mosaicism or neoplasm; vanishing twin; prior maternal
organ transplant; or other causes. Sex chromosomal aneuploidies are not reportable for known multiple gestations. These tests are screening tests and not diagnostic; they do not replace the accuracy and precision
of prenatal diagnosis with CVS or amniocentesis. A patient with a positive test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of test results.[7] A negative
result does not ensure an unaffected pregnancy nor does it exclude the possibility of other chromosomal abnormalities or birth defects which are not a part of these tests. An uninformative result may be reported, the
causes of which may include, but are not limited to, insufficient sequencing coverage, noise or artifacts in the region, amplification or sequencing bias, or insufficient fetal fraction. These tests are not intended to
identify pregnancies at risk for neural tube defects or ventral wall defects. Testing for whole chromosome abnormalities (including sex chromosomes) and for subchromosomal abnormalities could lead to the potential
discovery of both fetal and maternal genomic abnormalities that could have major, minor, or no, clinical significance. Evaluating the significance of a positive or a non-reportable result may involve both invasive testing
and additional studies on the mother. Such investigations may lead to a diagnosis of maternal chromosomal or subchromosomal abnormalities, which on occasion may be associated with benign or malignant
maternal neoplasms. These tests may not accurately identify fetal triploidy, balanced rearrangements, or the precise location of subchromosomal duplications or deletions; these may be detected by prenatal diagnosis
with CVS or amniocentesis. The ability to report results may be impacted by maternal BMI, maternal weight, maternal systemic lupus erythematosus (SLE) and/or by certain pharmaceutical agents such as low
molecular weight heparin (for example: Lovenox
®, Xaparin®, Clexane® and Fragmin®). The results of this testing, including the benefits and limitations, should be discussed with a qualified healthcare provider.
Pregnancy management decisions, including termination of the pregnancy, should not be based on the results of these tests alone. The healthcare provider is responsible for the use of this information in the
management of their patient.
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 3 of 4
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-1
119|22065-1119-1
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
mm/dd/year
1234567890
6%
Yes
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 27
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:44 AM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Note
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug
Administration. This laboratory is certified under the Clinical Laboratory
Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing and accredited by the College of American Pathologists (CAP).
References
1. Snijders RJ, et al. Fetal Diag. 1995;10(6):356-367.
2. Snijders RJ, et al. Ultrasound Obstet. 1999;13(3):167-170.
3. Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
4. Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
5. Zhao C, et al. Clin Chem. 2015 Apr;61(4):608-616.
6. Palomaki GE, et al. Genet Med. 2011;13(11):913-920.
7. ACOG/SMFM Joint Committee Opinion No. 545, Dec 2012.
Eyad Almasri, MD, PhD
Director, Sequenom Laboratories
01/10/2020
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 4 of 4
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-1
119|22065-1119-1
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
mm/dd/year
1234567890
6%
Yes
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 28
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:45 AM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Test Result
Trisomy 18, Trisomy 13
Positive
Lab Director Comments
This specimen showed an increased amount of chromosome 18 material (trisomy 18), such as may be found in pregnancies with Edwards
syndrome.
This specimen showed an increased amount of chromosome 13 material (trisomy 13), such as may be found in pregnancies with Patau
syndrome.
Result Table
Content
Result
FETAL SEX
Male
AUTOSOMAL ANEUPLOIDIES
Trisomy 21 (Down syndrome)
Negative
Trisomy 18 (Edwards syndrome)
Positive T18
Trisomy 13 (Patau syndrome)
Positive T13
SEX CHROMOSOME ANEUPLOIDIES
Monosomy X (Turner syndrome)
Not Detected
XYY (Jacobs syndrome)
Not Detected
XXY (Klinefelter syndrome)
Not Detected
XXX (Triple X syndrome)
Not Detected
SELECT MICRODELETIONS
22q11 deletion (associated with DiGeorge syndrome)
Not Detected
15q11 deletion (associated with Prader-Willi / Angelman syndrome)
Not Detected
11q23 deletion (associated with Jacobsen syndrome)
Not Detected
8q24 deletion (associated with Langer-Giedion syndrome)
Not Detected
5p15 deletion (associated with Cri-du-chat syndrome)
Not Detected
4p16 deletion (associated with Wolf-Hirschhorn syndrome)
Not Detected
1p36 deletion syndrome
Not Detected
Trisomy 16
Not Detected
Trisomy 22
Not Detected
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 1 of 3
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-1119
|22065-1119-1
Last, First
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
mm/dd/year
1234567890
6%
Yes
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 29
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:45 AM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Negative Predictive Value
The Negative Predictive
Value (NPV) for trisomy 21, 18, and 13 is greater than 99%. The NPV for SCA and ESS cannot be calculated as SCA and ESS are only reported when an abnormality is detected.
About the Test
The MaterniT
® 21 PLUS laboratory-developed test (LDT) analyzes circulating cell-free DNA from a maternal blood sample. The test is indicated for use in pregnant women with increased risk for fetal chromosomal
aneuploidy. Validation data on twin pregnancies is limited and the ability of this test to detect aneuploidy in a triplet pregnancy has not yet been validated.
Test Method
Circulating cell-free DN
A was purified from the plasma component of maternal blood. The extracted DNA was then converted into a genomic DNA library for aneuploidy analysis of chromosomes 21, 18, and 13 via
next generation sequencing.[2] Optional findings based on the test order include sex chromosome aneuploidy (SCA)[3], and enhanced sequencing series (ESS)[4], which will only be reported on as an additional
finding when an abnormality is detected. SCA testing includes information on X and Y representation, while ESS testing includes deletions in selected regions (22q, 15q, 11q, 8q, 5p, 4p, 1p) and trisomy of
chromosomes 16 and 22.
Performance
The performance characteristics of the MaterniT
® 21 PLUS laboratory-developed test (LDT) have been determined in a clinical validation study with pregnant women at increased risk for fetal chromosomal aneuploidy.
[2],[3],[4],[5]
Accuracy: 99.4%
Estimated Sensitivity**
Estimated Specificity
99.1%
99.9%
>99.9%
99.6%
91.7%
99.7%
96.2%
99.7%
* As reported in ISC
A database nstd37 - http://dbsearch.clinicalgenome.org/search/
** Sensitivity estimated across the observed size distribution of each syndrome [per ISCA database nstd37] and across the range of fetal fractions observed in routine clinical NIPT. Actual sensitivity can also be
influenced by other factors such as the size of the event, total sequence counts, amplification bias, or sequence bias.
Limitations of the Test
While the results of these tests are highly accurate, discordant results, including inaccurate fetal sex prediction, may occur due to placental, maternal, or fetal mosaicism or neoplasm; vanishing twin; prior maternal
organ transplant; or other causes. Sex chromosomal aneuploidies are not reportable for known multiple gestations. These tests are screening tests and not diagnostic; they do not replace the accuracy and precision
of prenatal diagnosis with CVS or amniocentesis. A patient with a positive test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of test results.[6] A negative
result does not ensure an unaffected pregnancy nor does it exclude the possibility of other chromosomal abnormalities or birth defects which are not a part of these tests. An uninformative result may be reported, the
causes of which may include, but are not limited to, insufficient sequencing coverage, noise or artifacts in the region, amplification or sequencing bias, or insufficient fetal fraction. These tests are not intended to
identify pregnancies at risk for neural tube defects or ventral wall defects. Testing for whole chromosome abnormalities (including sex chromosomes) and for subchromosomal abnormalities could lead to the potential
discovery of both fetal and maternal genomic abnormalities that could have major, minor, or no, clinical significance. Evaluating the significance of a positive or a non-reportable result may involve both invasive testing
and additional studies on the mother. Such investigations may lead to a diagnosis of maternal chromosomal or subchromosomal abnormalities, which on occasion may be associated with benign or malignant
maternal neoplasms. These tests may not accurately identify fetal triploidy, balanced rearrangements, or the precise location of subchromosomal duplications or deletions; these may be detected by prenatal diagnosis
with CVS or amniocentesis. The ability to report results may be impacted by maternal BMI, maternal weight, maternal systemic lupus erythematosus (SLE) and/or by certain pharmaceutical agents such as low
molecular weight heparin (for example: Lovenox
®, Xaparin®, Clexane® and Fragmin®). The results of this testing, including the benefits and limitations, should be discussed with a qualified healthcare provider.
Pregnancy management decisions, including termination of the pregnancy, should not be based on the results of these tests alone. The healthcare provider is responsible for the use of this information in the
management of their patient.
Note
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration. This laboratory is certified under the Clinical Laboratory
Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing and accredited by the College of American Pathologists (CAP).
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 2 of 3
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-1
119|22065-1119-1
Last, First
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
mm/dd/year
1234567890
6%
Yes
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 30
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:45 AM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
References
1. Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
2. Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
3. Zhao C, et al. Clin Chem. 2015 Apr;61(4):608-616.
4. Palomaki GE, et al. Genet Med. 2011;13(11):913-920.
5. ACOG/SMFM Joint Committee Opinion No. 545, Dec 2012.
Eyad Almasri, MD, PhD
Director, Sequenom Laboratories
01/10/2020
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 3 of 3
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-1
119|22065-1119-1
Last, First
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
mm/dd/year
1234567890
6%
Yes
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 31
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:49 AM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Test Result
Trisomy 21, Trisomy 22
Positive
Lab Director Comments
These findings are suggestive of trisomy 22. Full trisomy 22 is rarely compatible with life and most die before birth or shortly after. Mosaic trisomy
22 may present with growth restriction, malformations of the head and face, cardiac abnormalities, and developmental delay.
This specimen showed an increased amount of chromosome 21 material (trisomy 21), such as may be found in pregnancies with Down
syndrome.
Result Table
Content
Result
FETAL SEX
Male
AUTOSOMAL ANEUPLOIDIES
Trisomy 21 (Down syndrome)
Positive T21 PPV*: 96.4%
Trisomy 18 (Edwards syndrome)
Negative
Trisomy 13 (Patau syndrome)
Negative
SEX CHROMOSOME ANEUPLOIDIES
Monosomy X (Turner syndrome)
Not Detected
XYY (Jacobs syndrome)
Not Detected
XXY (Klinefelter syndrome)
Not Detected
XXX (Triple X syndrome)
Not Detected
SELECT MICRODELETIONS
22q11 deletion (associated with DiGeorge syndrome)
Not Detected
15q11 deletion (associated with Prader-Willi / Angelman syndrome)
Not Detected
11q23 deletion (associated with Jacobsen syndrome)
Not Detected
8q24 deletion (associated with Langer-Giedion syndrome)
Not Detected
5p15 deletion (associated with Cri-du-chat syndrome)
Not Detected
4p16 deletion (associated with Wolf-Hirschhorn syndrome)
Not Detected
1p36 deletion syndrome
Not Detected
Trisomy 16
Not Detected
Trisomy 22
Detected
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 1 of 3
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-11
19|22065-1119-1
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
mm/dd/year
1234567890
6%
Yes
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 32
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:49 AM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Negative Predictive Value
The Negative Predictive V
alue (NPV) for trisomy 21, 18, and 13 is greater than 99%. The NPV for SCA and ESS cannot be calculated as SCA and ESS are only reported when an abnormality is detected.
Positive Predictive Value
* Positive Predictive Value (PPV) estimates the probability that a pregnancy with a positive test result is in fact an affected pregnancy. The PPV for this patient was calculated only using maternal age and gestational
age[1], test performance[3] and the standard PPV formula.
For a more accurate and individualized PPV calculation, include additional clinical information from the patient
’s clinical history (which may include serum screen results, personal/family history, ultrasound findings,
etc.), and refer to the table below.
A Priori Risk
(1:X)
10
20
30
40
50
100
200
300
400
500
1000
1500
2000
2500
3000
5000
PPV (%)
TRISOMY 21
99.1
98.1
97.2
96.2
95.3
90.9
83.3
76.8
71.3
66.5
49.8
39.8
33.1
28.4
24.8
16.5
About the Test
The MaterniT
® 21 PLUS laboratory-developed test (LDT) analyzes circulating cell-free DNA from a maternal blood sample. The test is indicated for use in pregnant women with increased risk for fetal chromosomal
aneuploidy. Validation data on twin pregnancies is limited and the ability of this test to detect aneuploidy in a triplet pregnancy has not yet been validated.
Test Method
Circulating cell-free DNA
was purified from the plasma component of maternal blood. The extracted DNA was then converted into a genomic DNA library for aneuploidy analysis of chromosomes 21, 18, and 13 via
next generation sequencing.[2] Optional findings based on the test order include sex chromosome aneuploidy (SCA)[3], and enhanced sequencing series (ESS)[4], which will only be reported on as an additional
finding when an abnormality is detected. SCA testing includes information on X and Y representation, while ESS testing includes deletions in selected regions (22q, 15q, 11q, 8q, 5p, 4p, 1p) and trisomy of
chromosomes 16 and 22.
Performance
The performance characteristics of the MaterniT
® 21 PLUS laboratory-developed test (LDT) have been determined in a clinical validation study with pregnant women at increased risk for fetal chromosomal aneuploidy.
[2],[3],[4],[5]
Accuracy: 99.4%
Estimated Sensitivity**
Estimated Specificity
99.1%
99.9%
>99.9%
99.6%
91.7%
99.7%
96.2%
99.7%
* As reported in ISCA
database nstd37 - http://dbsearch.clinicalgenome.org/search/
** Sensitivity estimated across the observed size distribution of each syndrome [per ISCA database nstd37] and across the range of fetal fractions observed in routine clinical NIPT. Actual sensitivity can also be
influenced by other factors such as the size of the event, total sequence counts, amplification bias, or sequence bias.
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 2 of 3
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-11
19|22065-1119-1
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
mm/dd/year
1234567890
6%
Yes
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 33
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:49 AM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Limitations of the Test
While the results of these tests are highly accurate, discordant results, including inaccurate fetal sex prediction, may occur due to placental, maternal, or fetal mosaicism or neoplasm; vanishing twin; prior maternal
organ transplant; or other causes. Sex chromosomal aneuploidies are not reportable for known multiple gestations. These tests are screening tests and not diagnostic; they do not replace the accuracy and precision
of prenatal diagnosis with CVS or amniocentesis. A
patient with a positive test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of test results.[6] A negative
result does not ensure an unaffected pregnancy nor does it exclude the possibility of other chromosomal abnormalities or birth defects which are not a part of these tests. An uninformative result may be reported, the
causes of which may include, but are not limited to, insufficient sequencing coverage, noise or artifacts in the region, amplification or sequencing bias, or insufficient fetal fraction. These tests are not intended to
identify pregnancies at risk for neural tube defects or ventral wall defects. Testing for whole chromosome abnormalities (including sex chromosomes) and for subchromosomal abnormalities could lead to the potential
discovery of both fetal and maternal genomic abnormalities that could have major, minor, or no, clinical significance. Evaluating the significance of a positive or a non-reportable result may involve both invasive testing
and additional studies on the mother. Such investigations may lead to a diagnosis of maternal chromosomal or subchromosomal abnormalities, which on occasion may be associated with benign or malignant
maternal neoplasms. These tests may not accurately identify fetal triploidy, balanced rearrangements, or the precise location of subchromosomal duplications or deletions; these may be detected by prenatal diagnosis
with CVS or amniocentesis. The ability to report results may be impacted by maternal BMI, maternal weight, maternal systemic lupus erythematosus (SLE) and/or by certain pharmaceutical agents such as low
molecular weight heparin (for example: Lovenox
®, Xaparin®, Clexane® and Fragmin®). The results of this testing, including the benefits and limitations, should be discussed with a qualified healthcare provider.
Pregnancy management decisions, including termination of the pregnancy, should not be based on the results of these tests alone. The healthcare provider is responsible for the use of this information in the
management of their patient.
Note
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration. This laboratory is certified under the Clinical Laboratory
Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing and accredited by the College of American Pathologists (CAP).
References
1. Snijders RJ, et al. Ultrasound Obstet. 1999;13(3):167-170.
2. Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
3. Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
4. Zhao C, et al. Clin Chem. 2015 Apr;61(4):608-616.
5. Palomaki GE, et al. Genet Med. 2011;13(11):913-920.
6. ACOG/SMFM Joint Committee Opinion No. 545, Dec 2012.
Eyad Almasri, MD, PhD
Director, Sequenom Laboratories
01/10/2020
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 3 of 3
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-1
119|22065-1119-1
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
mm/dd/year
1234567890
6%
Yes
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 34
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:42 AM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Test Result
Trisomy 21, Klinefelter syndrome
Positive
Lab Director Comments
This specimen showed an increased amount of chromosome 21 material (trisomy 21), such as may be found in pregnancies with Down
syndrome.
These findings are suggestive of a 47,XXY chromosomal aneuploidy, such as may be found in pregnancies with Klinefelter syndrome.
Result Table
Content
Result
FETAL SEX
Male
AUTOSOMAL ANEUPLOIDIES
Trisomy 21 (Down syndrome)
Positive T21 PPV*: 96.4%
Trisomy 18 (Edwards syndrome)
Negative
Trisomy 13 (Patau syndrome)
Negative
SEX CHROMOSOME ANEUPLOIDIES
Monosomy X (Turner syndrome)
Not Detected
XYY (Jacobs syndrome)
Not Detected
XXY (Klinefelter syndrome)
Detected
XXX (Triple X syndrome)
Not Detected
SELECT MICRODELETIONS
22q11 deletion (associated with DiGeorge syndrome)
Not Detected
15q11 deletion (associated with Prader-Willi / Angelman syndrome)
Not Detected
11q23 deletion (associated with Jacobsen syndrome)
Not Detected
8q24 deletion (associated with Langer-Giedion syndrome)
Not Detected
5p15 deletion (associated with Cri-du-chat syndrome)
Not Detected
4p16 deletion (associated with Wolf-Hirschhorn syndrome)
Uninformative
1p36 deletion syndrome
Not Detected
Trisomy 16
Not Detected
Trisomy 22
Not Detected
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 1 of 3
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-11
19|22065-1119-1
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
mm/dd/year
1234567890
6%
Yes
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 35
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:42 AM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Negative Predictive Value
The Negative Predictive
Value (NPV) for trisomy 21, 18, and 13 is greater than 99%. The NPV for SCA and ESS cannot be calculated as SCA and ESS are only reported when an abnormality is detected.
Positive Predictive Value
* Positive Predictive Value (PPV) estimates the probability that a pregnancy with a positive test result is in fact an affected pregnancy. The PPV for this patient was calculated only using maternal age and gestational
age[1], test performance[3] and the standard PPV formula.
For a more accurate and individualized PPV calculation, include additional clinical information from the patient
’s clinical history (which may include serum screen results, personal/family history, ultrasound findings,
etc.), and refer to the table below.
A Priori Risk
(1:X)
10
20
30
40
50
100
200
300
400
500
1000
1500
2000
2500
3000
5000
PPV (%)
TRISOMY 21
99.1
98.1
97.2
96.2
95.3
90.9
83.3
76.8
71.3
66.5
49.8
39.8
33.1
28.4
24.8
16.5
About the Test
The MaterniT
® 21 PLUS laboratory-developed test (LDT) analyzes circulating cell-free DNA from a maternal blood sample. The test is indicated for use in pregnant women with increased risk for fetal chromosomal
aneuploidy. Validation data on twin pregnancies is limited and the ability of this test to detect aneuploidy in a triplet pregnancy has not yet been validated.
Test Method
Circulating cell-free DN
A was purified from the plasma component of maternal blood. The extracted DNA was then converted into a genomic DNA library for aneuploidy analysis of chromosomes 21, 18, and 13 via
next generation sequencing.[2] Optional findings based on the test order include sex chromosome aneuploidy (SCA)[3], and enhanced sequencing series (ESS)[4], which will only be reported on as an additional
finding when an abnormality is detected. SCA testing includes information on X and Y representation, while ESS testing includes deletions in selected regions (22q, 15q, 11q, 8q, 5p, 4p, 1p) and trisomy of
chromosomes 16 and 22.
Performance
The performance characteristics of the MaterniT
® 21 PLUS laboratory-developed test (LDT) have been determined in a clinical validation study with pregnant women at increased risk for fetal chromosomal aneuploidy.
[2],[3],[4],[5]
Accuracy: 99.4%
Estimated Sensitivity**
Estimated Specificity
99.1%
99.9%
>99.9%
99.6%
91.7%
99.7%
96.2%
99.7%
* As reported in ISC
A database nstd37 - http://dbsearch.clinicalgenome.org/search/
** Sensitivity estimated across the observed size distribution of each syndrome [per ISCA database nstd37] and across the range of fetal fractions observed in routine clinical NIPT. Actual sensitivity can also be
influenced by other factors such as the size of the event, total sequence counts, amplification bias, or sequence bias.
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 2 of 3
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-1
119|22065-1119-1
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
mm/dd/year
1234567890
6%
Yes
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 36
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:42 AM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Limitations of the Test
While the results of these tests are highly accurate, discordant results, including inaccurate fetal sex prediction, may occur due to placental, maternal, or fetal mosaicism or neoplasm; vanishing twin; prior maternal
organ transplant; or other causes. Sex chromosomal aneuploidies are not reportable for known multiple gestations. These tests are screening tests and not diagnostic; they do not replace the accuracy and precision
of prenatal diagnosis with CVS or amniocentesis. A patient with a positive test result should be referred for genetic counseling and of
fered invasive prenatal diagnosis for confirmation of test results.[6] A negative
result does not ensure an unaffected pregnancy nor does it exclude the possibility of other chromosomal abnormalities or birth defects which are not a part of these tests. An uninformative result may be reported, the
causes of which may include, but are not limited to, insufficient sequencing coverage, noise or artifacts in the region, amplification or sequencing bias, or insufficient fetal fraction. These tests are not intended to
identify pregnancies at risk for neural tube defects or ventral wall defects. Testing for whole chromosome abnormalities (including sex chromosomes) and for subchromosomal abnormalities could lead to the potential
discovery of both fetal and maternal genomic abnormalities that could have major, minor, or no, clinical significance. Evaluating the significance of a positive or a non-reportable result may involve both invasive testing
and additional studies on the mother. Such investigations may lead to a diagnosis of maternal chromosomal or subchromosomal abnormalities, which on occasion may be associated with benign or malignant
maternal neoplasms. These tests may not accurately identify fetal triploidy, balanced rearrangements, or the precise location of subchromosomal duplications or deletions; these may be detected by prenatal diagnosis
with CVS or amniocentesis. The ability to report results may be impacted by maternal BMI, maternal weight, maternal systemic lupus erythematosus (SLE) and/or by certain pharmaceutical agents such as low
molecular weight heparin (for example: Lovenox
®, Xaparin®, Clexane® and Fragmin®). The results of this testing, including the benefits and limitations, should be discussed with a qualified healthcare provider.
Pregnancy management decisions, including termination of the pregnancy, should not be based on the results of these tests alone. The healthcare provider is responsible for the use of this information in the
management of their patient.
Note
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration. This laboratory is certified under the Clinical Laboratory
Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing and accredited by the College of American Pathologists (CAP).
References
1. Snijders RJ, et al. Ultrasound Obstet. 1999;13(3):167-170.
2. Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
3. Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
4. Zhao C, et al. Clin Chem. 2015 Apr;61(4):608-616.
5. Palomaki GE, et al. Genet Med. 2011;13(11):913-920.
6. ACOG/SMFM Joint Committee Opinion No. 545, Dec 2012.
Eyad Almasri, MD, PhD
Director, Sequenom Laboratories
01/10/2020
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 3 of 3
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-11
19|22065-1119-1
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
mm/dd/year
1234567890
6%
Yes
Order ID: xxx1234567Last, First
MaterniT NIPT Sample Lab Reports | 37
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Last, First
Date Reported:
01/10/2020 01:21 PM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
mm/dd/year
1234567890
6%
Yes
Test Result
11q23
Additional Finding Detected
Lab Director Comments
These findings are suggestive of an 11q deletion, affecting the 11q23 region associated with Jacobsen syndrome. Jacobsen syndrome ( 11q
terminal deletion disorder) is caused by a deletion on the long arm of chromosome 11. The disorder is characterized by growth restriction,
developmental delay, and distinctive facial features. The majority of affected individuals have a bleeding disorder called Paris -Trousseau
syndrome. Other anomalies include malformations of the heart, kidney, gastrointestinal tract, genitalia, central nervous system, and skeleton.
Incidence is ~1/100,000 births. Most cases are not inherited and represent a de novo deletion.
Result Table
Content
Result
FETAL SEX
Male
AUTOSOMAL ANEUPLOIDIES
Trisomy 21 (Down syndrome)
Negative
Trisomy 18 (Edwards syndrome)
Negative
Trisomy 13 (Patau syndrome)
Negative
SEX CHROMOSOME ANEUPLOIDIES
Monosomy X (Turner syndrome)
Not Detected
XYY (Jacobs syndrome)
Not Detected
XXY (Klinefelter syndrome)
Not Detected
XXX (Triple X syndrome)
Not Detected
SELECT MICRODELETIONS
22q11 deletion (associated with DiGeorge syndrome)
Not Detected
15q11 deletion (associated with Prader-Willi / Angelman syndrome)
Not Detected
11q23 deletion (associated with Jacobsen syndrome)
Detected
8q24 deletion (associated with Langer-Giedion syndrome)
Uninformative
5p15 deletion (associated with Cri-du-chat syndrome)
Not Detected
4p16 deletion (associated with Wolf-Hirschhorn syndrome)
Not Detected
1p36 deletion syndrome
Not Detected
Trisomy 16
Not Detected
Trisomy 22
Not Detected
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
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Order ID: xxx1234567Last, First
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MaterniT NIPT Sample Lab Reports | 38
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 01:21 PM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
mm/dd/yearr
1234567890
6%
Yes
Negative Predictive Value
The Negative Predictive Value
(NPV) for trisomy 21, 18, and 13 is greater than 99%. The NPV for SCA and ESS cannot be calculated as SCA and ESS are only reported when an abnormality is detected.
About the Test
The MaterniT
® 21 PLUS laboratory-developed test (LDT) analyzes circulating cell-free DNA from a maternal blood sample. The test is indicated for use in pregnant women with increased risk for fetal chromosomal
aneuploidy. Validation data on twin pregnancies is limited and the ability of this test to detect aneuploidy in a triplet pregnancy has not yet been validated.
Test Method
Circulating cell-free DNA was purified from the plasma component of maternal blood
. The extracted DNA was then converted into a genomic DNA library for aneuploidy analysis of chromosomes 21, 18, and 13 via
next generation sequencing.[1] Optional findings based on the test order include sex chromosome aneuploidy (SCA)[2], and enhanced sequencing series (ESS)[3], which will only be reported on as an additional
finding when an abnormality is detected. SCA testing includes information on X and Y representation, while ESS testing includes deletions in selected regions (22q, 15q, 11q, 8q, 5p, 4p, 1p) and trisomy of
chromosomes 16 and 22.
Performance
The performance characteristics of the MaterniT
® 21 PLUS laboratory-developed test (LDT) have been determined in a clinical validation study with pregnant women at increased risk for fetal chromosomal aneuploidy.
[1],[2],[3],[4]
Accuracy: 99.4%
Estimated Sensitivity**
Estimated Specificity
99.1%
99.9%
>99.9%
99.6%
91.7%
99.7%
96.2%
99.7%
* As reported in ISCA database nstd
37 - http://dbsearch.clinicalgenome.org/search/
** Sensitivity estimated across the observed size distribution of each syndrome [per ISCA database nstd37] and across the range of fetal fractions observed in routine clinical NIPT. Actual sensitivity can also be
influenced by other factors such as the size of the event, total sequence counts, amplification bias, or sequence bias.
Limitations of the Test
While the results of these tests are highly accurate, discordant results, including inaccurate fetal sex prediction, may occur due to placental, maternal, or fetal mosaicism or neoplasm; vanishing twin; prior maternal
organ transplant; or other causes. Sex chromosomal aneuploidies are not reportable for known multiple gestations. These tests are screening tests and not diagnostic; they do not replace the accuracy and precision
of prenatal diagnosis with CVS or amniocentesis. A patient with a positive test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of test results.[5] A negative
result does not ensure an unaffected pregnancy nor does it exclude the possibility of other chromosomal abnormalities or birth defects which are not a part of these tests. An uninformative result may be reported, the
causes of which may include, but are not limited to, insufficient sequencing coverage, noise or artifacts in the region, amplification or sequencing bias, or insufficient fetal fraction. These tests are not intended to
identify pregnancies at risk for neural tube defects or ventral wall defects. Testing for whole chromosome abnormalities (including sex chromosomes) and for subchromosomal abnormalities could lead to the potential
discovery of both fetal and maternal genomic abnormalities that could have major, minor, or no, clinical significance. Evaluating the significance of a positive or a non-reportable result may involve both invasive testing
and additional studies on the mother. Such investigations may lead to a diagnosis of maternal chromosomal or subchromosomal abnormalities, which on occasion may be associated with benign or malignant
maternal neoplasms. These tests may not accurately identify fetal triploidy, balanced rearrangements, or the precise location of subchromosomal duplications or deletions; these may be detected by prenatal diagnosis
with CVS or amniocentesis. The ability to report results may be impacted by maternal BMI, maternal weight, maternal systemic lupus erythematosus (SLE) and/or by certain pharmaceutical agents such as low
molecular weight heparin (for example: Lovenox
®, Xaparin®, Clexane® and Fragmin®). The results of this testing, including the benefits and limitations, should be discussed with a qualified healthcare provider.
Pregnancy management decisions, including termination of the pregnancy, should not be based on the results of these tests alone. The healthcare provider is responsible for the use of this information in the
management of their patient.
Note
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration. This laboratory is certified under the Clinical Laboratory
Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing and accredited by the College of American Pathologists (CAP).
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 2 of 3
Order ID: xxx1234567
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories. rep-1404-v1-1119|22065-1119-1
Last, First
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
MaterniT NIPT Sample Lab Reports | 39
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 01:21 PM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
mm/dd/year
1234567890
6%
Yes
References
1. Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
2. Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
3. Zhao C, et al. Clin Chem. 2015 Apr;61(4):608-616.
4. Palomaki GE, et al. Genet Med. 2011;13(11):913-920.
5. ACOG/SMFM Joint Committee Opinion No. 545, Dec 2012.
Eyad Almasri, MD, PhD
Director, Sequenom Laboratories
01/10/2020
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 3 of 3
Order ID: xxx1234567
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories. rep-1404-v1-1119|22065-1119-1
Last, First
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
MaterniT NIPT Sample Lab Reports | 40
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 01:21 PM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
mm/dd/year
1234567890
6%
Yes
Test Result
15q11
Additional Finding Detected
Lab Director Comments
These findings are suggestive of a 15q deletion, affecting the region associated with Angelman and Prader -Willi syndromes. Both Angelman (AS)
and Prader-Willi (PWS) syndromes may be caused by deletions on the long arm of chromosome 15. Maternal deletions lead to AS while paternal
deletions result in PWS. Seventy percent of both AS and PWS are caused by deletions on the long arm of chromosome 15. These disorders affect
the nervous system and, while both result in developmental delay, each presents with its own unique clinical features. The severity of these
syndromes warrants additional studies, FISH and/ or methylation PCR, for definitive diagnosis and to facilitate relevant genetic counseling. These
conditions affect all ethnicities and incidence is ~1 in 20,000.
Result Table
Content
Result
FETAL SEX
Male
AUTOSOMAL ANEUPLOIDIES
Trisomy 21 (Down syndrome)
Negative
Trisomy 18 (Edwards syndrome)
Negative
Trisomy 13 (Patau syndrome)
Negative
SEX CHROMOSOME ANEUPLOIDIES
Monosomy X (Turner syndrome)
Not Detected
XYY (Jacobs syndrome)
Not Detected
XXY (Klinefelter syndrome)
Not Detected
XXX (Triple X syndrome)
Not Detected
SELECT MICRODELETIONS
22q11 deletion (associated with DiGeorge syndrome)
Not Detected
15q11 deletion (associated with Prader-Willi / Angelman syndrome)
Detected
11q23 deletion (associated with Jacobsen syndrome)
Not Detected
8q24 deletion (associated with Langer-Giedion syndrome)
Not Detected
5p15 deletion (associated with Cri-du-chat syndrome)
Not Detected
4p16 deletion (associated with Wolf-Hirschhorn syndrome)
Not Detected
1p36 deletion syndrome
Not Detected
Trisomy 16
Not Detected
Trisomy 22
Not Detected
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 1 of 3
Order ID: xxx1234567
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories. rep-1404-v1-1119|22065-1119-1
Last, First
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
MaterniT NIPT Sample Lab Reports | 41
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 01:21 PM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
mm/dd/year
1234567890
6%
Yes
Negative Predictive Value
The Negative Predictive Value
(NPV) for trisomy 21, 18, and 13 is greater than 99%. The NPV for SCA and ESS cannot be calculated as SCA and ESS are only reported when an abnormality is detected.
About the Test
The MaterniT
® 21 PLUS laboratory-developed test (LDT) analyzes circulating cell-free DNA from a maternal blood sample. The test is indicated for use in pregnant women with increased risk for fetal chromosomal
aneuploidy. Validation data on twin pregnancies is limited and the ability of this test to detect aneuploidy in a triplet pregnancy has not yet been validated.
Test Method
Circulating cell-free DNA was purified from the plasma component of maternal blood
. The extracted DNA was then converted into a genomic DNA library for aneuploidy analysis of chromosomes 21, 18, and 13 via
next generation sequencing.[1] Optional findings based on the test order include sex chromosome aneuploidy (SCA)[2], and enhanced sequencing series (ESS)[3], which will only be reported on as an additional
finding when an abnormality is detected. SCA testing includes information on X and Y representation, while ESS testing includes deletions in selected regions (22q, 15q, 11q, 8q, 5p, 4p, 1p) and trisomy of
chromosomes 16 and 22.
Performance
The performance characteristics of the MaterniT
® 21 PLUS laboratory-developed test (LDT) have been determined in a clinical validation study with pregnant women at increased risk for fetal chromosomal aneuploidy.
[1],[2],[3],[4]
Accuracy: 99.4%
Estimated Sensitivity**
Estimated Specificity
99.1%
99.9%
>99.9%
99.6%
91.7%
99.7%
96.2%
99.7%
* As reported in ISCA database nstd
37 - http://dbsearch.clinicalgenome.org/search/
** Sensitivity estimated across the observed size distribution of each syndrome [per ISCA database nstd37] and across the range of fetal fractions observed in routine clinical NIPT. Actual sensitivity can also be
influenced by other factors such as the size of the event, total sequence counts, amplification bias, or sequence bias.
Limitations of the Test
While the results of these tests are highly accurate, discordant results, including inaccurate fetal sex prediction, may occur due to placental, maternal, or fetal mosaicism or neoplasm; vanishing twin; prior maternal
organ transplant; or other causes. Sex chromosomal aneuploidies are not reportable for known multiple gestations. These tests are screening tests and not diagnostic; they do not replace the accuracy and precision
of prenatal diagnosis with CVS or amniocentesis. A patient with a positive test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of test results.[5] A negative
result does not ensure an unaffected pregnancy nor does it exclude the possibility of other chromosomal abnormalities or birth defects which are not a part of these tests. An uninformative result may be reported, the
causes of which may include, but are not limited to, insufficient sequencing coverage, noise or artifacts in the region, amplification or sequencing bias, or insufficient fetal fraction. These tests are not intended to
identify pregnancies at risk for neural tube defects or ventral wall defects. Testing for whole chromosome abnormalities (including sex chromosomes) and for subchromosomal abnormalities could lead to the potential
discovery of both fetal and maternal genomic abnormalities that could have major, minor, or no, clinical significance. Evaluating the significance of a positive or a non-reportable result may involve both invasive testing
and additional studies on the mother. Such investigations may lead to a diagnosis of maternal chromosomal or subchromosomal abnormalities, which on occasion may be associated with benign or malignant
maternal neoplasms. These tests may not accurately identify fetal triploidy, balanced rearrangements, or the precise location of subchromosomal duplications or deletions; these may be detected by prenatal diagnosis
with CVS or amniocentesis. The ability to report results may be impacted by maternal BMI, maternal weight, maternal systemic lupus erythematosus (SLE) and/or by certain pharmaceutical agents such as low
molecular weight heparin (for example: Lovenox
®, Xaparin®, Clexane® and Fragmin®). The results of this testing, including the benefits and limitations, should be discussed with a qualified healthcare provider.
Pregnancy management decisions, including termination of the pregnancy, should not be based on the results of these tests alone. The healthcare provider is responsible for the use of this information in the
management of their patient.
Note
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration. This laboratory is certified under the Clinical Laboratory
Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing and accredited by the College of American Pathologists (CAP).
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 2 of 3
Order ID: xxx1234567
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories. rep-1404-v1-1119|22065-1119-1
Last, First
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
MaterniT NIPT Sample Lab Reports | 42
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 01:21 PM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
mm/dd/year
1234567890
6%
Yes
References
1. Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
2. Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
3. Zhao C, et al. Clin Chem. 2015 Apr;61(4):608-616.
4. Palomaki GE, et al. Genet Med. 2011;13(11):913-920.
5. ACOG/SMFM Joint Committee Opinion No. 545, Dec 2012.
Eyad Almasri, MD, PhD
Director, Sequenom Laboratories
01/10/2020
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 3 of 3
Order ID: xxx1234567
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories. rep-1404-v1-1119|22065-1119-1
Last, First
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
MaterniT NIPT Sample Lab Reports | 43
Table of Contents
Test Result
Monosomy X
Additional Finding Detected
Lab Director Comments
The specimen showed a decreased representation of chromosome X, suggestive of monosomy X (45,X). In placental testing, monosomy X is a
common mosaic finding that is often confined to the placenta (CPM), Grati et al, 2014. However, true fetal involvement is associated with
phenotypic abnormality (Turner syndrome). Low level maternal mosaicism cannot be excluded. Genetic counseling, confirmatory diagnostic
testing, and clinical correlation are recommended.
Result Table
Content Result
FETAL SEX
Opt-Out
AUTOSOMAL ANEUPLOIDIES
Trisomy 21 (Down syndrome)
Negative
Trisomy 18 (Edwards syndrome)
Negative
Trisomy 13 (Patau syndrome)
Negative
SEX CHROMOSOME ANEUPLOIDIES
Monosomy X (Turner syndrome)
Detected
XYY (Jacobs syndrome)
Not Detected
XXY (Klinefelter syndrome)
Not Detected
XXX (Triple X syndrome)
Not Detected
SELECT WHOLE CHROMOSOMES
Trisomy 16
Not Detected
Trisomy 22
Not Detected
SELECT MICRODELETIONS
22q11 deletion (associated with DiGeorge syndrome)
Not Detected
15q11 deletion (associated with Prader-Willi / Angelman syndrome)
Not Detected
11q23 deletion (associated with Jacobsen syndrome)
Not Detected
8q24 deletion (associated with Langer-Giedion syndrome)
Not Detected
5p15 deletion (associated with Cri-du-chat syndrome)
Not Detected
4p16 deletion (associated with Wolf-Hirschhorn syndrome)
Not Detected
1p36 deletion syndrome
Not Detected
MaterniT® 21 PLUS Lab Report
Page 1 of 2
rep-1407-v1-1119 | 22068-1119-1
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Ordering Provider:
Provider Location:
Provider Phone:
Date Ordered:
Date Collected:
Date Received:
Order ID:
Patient ID:
Patient:
DOB:
Specimen:
Fetal Fraction:
Gestational Age ≥ 9w:
External Accession:
Referral Clinician:
Date Reported:
01/10/2020 01:20 PM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
mm/dd/year
1234567890
6%
Yes
Order ID: xxx1234567Last, First
Negative Predictive Value
The Negative Predictive Value (NPV) for trisomy 21, 18, and 13 is greater than 99%. The NPV for SCA and ESS cannot be calculated as SCA and ESS are only reported when an abnormality is detected.
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom. ©2020 Sequenom Laboratories.
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT NIPT Sample Lab Reports | 44
Table of Contents
About the Test
The MaterniT® 21 PLUS laboratory-developed test (LDT) analyzes circulating cell-free DNA from a maternal blood sample. The test is indicated for use in pregnant women with increased risk for fetal
chromosomal aneuploidy. Validation data on twin pregnancies is limited and the ability of this test to detect aneuploidy in a triplet pregnancy has not yet been validated.
Test Method
Circulating cell-free DNA was purified from the plasma component of maternal blood. The extracted DNA was then converted into a genomic DNA library for aneuploidy analysis of chromosomes 21, 18, and 13 via
next generation sequencing.[1] Optional findings based on the test order include sex chromosome aneuploidy (SCA)[2], and enhanced sequencing series (ESS)[3], which will only be reported on as an additional
finding when an abnormality is detected. SCA testing includes information on X and Y representation, while ESS testing includes deletions in selected regions (22q, 15q, 11q, 8q, 5p, 4p, 1p) and trisomy of
chromosomes 16 and 22.
Performance
The performance characteristics of the MaterniT® 21 PLUS laboratory-developed test (LDT) have been determined in a clinical validation study with pregnant women at increased risk for fetal chromosomal
aneuploidy.[1],[2],[3],[4]
Y-Chromosome (Fetal Sex) Accuracy: 99.4%
Region (associated syndrome) Estim ated S ensitivity** Estimated Specificity
Trisomy 21 (Down Syndrome) 99.1% 99.9%
Trisomy 18 (Edwards Syndrome) >99.9% 99.6%
Trisomy 13 (Patau Syndrome) 91.7% 99.7%
Sex Chromosome Aneuploidies (singleton gestation only) 96.2% 99.7%
* As reported in ISCA database nstd37 [http://dbsearch.clinicalgenome.org/search/ ]
** Sensitivity estimated across the observed size distribution of each syndrome [per ISCA database nstd37] and across the range of fetal fractions observed in routine clinical NIPT. Actual sensitivity can also be
influenced by other factors such as the size of the event, total sequence counts, amplification bias, or sequence bias.
Limitations of the Test
While the results of these tests are highly accurate, discordant results, including inaccurate fetal sex prediction, may occur due to placental, maternal, or fetal mosaicism or neoplasm; vanishing twin; prior maternal
organ transplant; or other causes. Sex chromosomal aneuploidies are not reportable for known multiple gestations. These tests are screening tests and not diagnostic; they do not replace the accuracy and precision
of prenatal diagnosis with CVS or amniocentesis. A patient with a positive test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of test results.[5] A negative
result does not ensure an unaffected pregnancy nor does it exclude the possibility of other chromosomal abnormalities or birth defects which are not a part of these tests. An uninformative result may be reported, the
causes of which may include, but are not limited to, insufficient sequencing coverage, noise or artifacts in the region, amplification or sequencing bias, or insufficient fetal fraction. These tests are not intended to
identify pregnancies at risk for neural tube defects or ventral wall defects. Testing for whole chromosome abnormalities (including sex chromosomes) and for subchromosomal abnormalities could lead to the potential
discovery of both fetal and maternal genomic abnormalities that could have major, minor, or no, clinical significance. Evaluating the significance of a positive or a non-reportable result may involve both invasive testing
and additional studies on the mother. Such investigations may lead to a diagnosis of maternal chromosomal or subchromosomal abnormalities, which on occasion may be associated with benign or malignant
maternal neoplasms. These tests may not accurately identify fetal triploidy, balanced rearrangements, or the precise location of subchromosomal duplications or deletions; these may be detected by prenatal diagnosis
with CVS or amniocentesis. The ability to report results may be impacted by maternal BMI, maternal weight, maternal systemic lupus erythematosus (SLE) and/or by certain pharmaceutical agents such as low
molecular weight heparin (for example: Lovenox
®, Xaparin®, Clexane® and Fragmin®). The results of this testing, including the benefits and limitations, should be discussed with a qualified healthcare provider.
Pregnancy management decisions, including termination of the pregnancy, should not be based on the results of these tests alone. The healthcare provider is responsible for the use of this information in the
management of their patient.
Note
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration. This laboratory is certified under the Clinical Laboratory
Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing and accredited by the College of American Pathologists (CAP).
References
1. Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
2. Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
3. Zhao C, et al. Clin Chem. 2015 Apr;61(4):608-616.
4. Palomaki GE, et al. Genet Med. 2011;13(11):913-920.
5. ACOG/SMFM Joint Committee Opinion No. 545, Dec 2012.
MaterniT® 21 PLUS Lab Report
Page 2 of 2
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom. ©2020 Sequenom Laboratories. rep-1407-v1-1119 | 22068-1119-1
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Ordering Provider:
Provider Location:
Provider Phone:
Date Ordered:
Date Collected:
Date Received:
Order ID:
Patient ID:
Patient:
DOB:
Specimen:
Fetal Fraction:
Gestational Age ≥ 9w:
External Accession:
Referral Clinician:
Date Reported:
01/10/2020 01:20 PM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
Last, First
mm/dd/year
1234567890
6%
Yes
Order ID: xxx1234567Last, First
Eyad Almasri, MD, PhD
Director, Sequenom Laboratories
01/27/2020
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT NIPT Sample Lab Reports | 45
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Last, First
Date Reported:
01/10/2020 10:50 AM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
mm/dd/year
1234567890
<3%
Yes
Test Result
QNS
Lab Director Comments
Quantity of DNA not sufficient.
Negative Predictive Value
The Negative Predictive Value (NPV) for trisomy 21, 18, and 13 is greater than 99%. The NPV for SCA and ESS cannot be calculated as SCA and ESS are only reported when an abnormality is detected.
About the Test
The MaterniT
® 21 PLUS laboratory-developed test (LDT) analyzes circulating cell-free DNA from a maternal blood sample. The test is indicated for use in pregnant women with increased risk for fetal chromosomal
aneuploidy. Validation data on twin pregnancies is limited and the ability of this test to detect aneuploidy in a triplet pregnancy has not yet been validated.
Test Method
Circulating cell-free DNA
was purified from the plasma component of maternal blood. The extracted DNA was then converted into a genomic DNA library for aneuploidy analysis of chromosomes 21, 18, and 13 via
next generation sequencing.[1] Optional findings based on the test order include sex chromosome aneuploidy (SCA)[2], and enhanced sequencing series (ESS)[3], which will only be reported on as an additional
finding when an abnormality is detected. SCA testing includes information on X and Y representation, while ESS testing includes deletions in selected regions (22q, 15q, 11q, 8q, 5p, 4p, 1p) and trisomy of
chromosomes 16 and 22.
Performance
The performance characteristics of the MaterniT
® 21 PLUS laboratory-developed test (LDT) have been determined in a clinical validation study with pregnant women at increased risk for fetal chromosomal aneuploidy.
[1],[2],[3],[4]
Accuracy: 99.4%
Estimated Sensitivity**
Estimated Specificity
99.1%
99.9%
>99.9%
99.6%
91.7%
99.7%
96.2%
99.7%
* As reported in ISCA
database nstd37 - http://dbsearch.clinicalgenome.org/search/
** Sensitivity estimated across the observed size distribution of each syndrome [per ISCA database nstd37] and across the range of fetal fractions observed in routine clinical NIPT. Actual sensitivity can also be
influenced by other factors such as the size of the event, total sequence counts, amplification bias, or sequence bias.
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 1 of 2
Order ID: xxx1234567Last, First
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories. rep-1404-v1-1119|22065-1119-1
MaterniT NIPT Sample Lab Reports | 46
Table of Contents
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
CLIA #: 05D2015356 CAP #: 7527138
Lab Director: Phillip Cacheris, MD, PhD
Final Report
Order ID:
Ordering Provider:
Date Received:
Date Collected:
Date Ordered:
Provider Phone:
Provider Location:
Referral Clinician:
Specimen:
Patient ID:
DOB:
Patient:
External Accession:
Date Reported:
01/10/2020 10:50 AM PT
MaterniT® 21 PLUS (Core) + SCA + ESS
Singleton Gestation
Fetal Fraction:
Gestational Age ≥ 9w:
Limitations of the Test
While the results of these tests are highly accurate, discordant results, including inaccurate fetal sex prediction, may occur due to placental, maternal, or fetal mosaicism or neoplasm; vanishing twin; prior maternal
organ transplant; or other causes. Sex chromosomal aneuploidies are not reportable for known multiple gestations. These tests are screening tests and not diagnostic; they do not replace the accuracy and precision
of prenatal diagnosis with CVS or amniocentesis. A patient with a positive test result should be referred for genetic counseling and of
fered invasive prenatal diagnosis for confirmation of test results.[5] A negative
result does not ensure an unaffected pregnancy nor does it exclude the possibility of other chromosomal abnormalities or birth defects which are not a part of these tests. An uninformative result may be reported, the
causes of which may include, but are not limited to, insufficient sequencing coverage, noise or artifacts in the region, amplification or sequencing bias, or insufficient fetal fraction. These tests are not intended to
identify pregnancies at risk for neural tube defects or ventral wall defects. Testing for whole chromosome abnormalities (including sex chromosomes) and for subchromosomal abnormalities could lead to the potential
discovery of both fetal and maternal genomic abnormalities that could have major, minor, or no, clinical significance. Evaluating the significance of a positive or a non-reportable result may involve both invasive testing
and additional studies on the mother. Such investigations may lead to a diagnosis of maternal chromosomal or subchromosomal abnormalities, which on occasion may be associated with benign or malignant
maternal neoplasms. These tests may not accurately identify fetal triploidy, balanced rearrangements, or the precise location of subchromosomal duplications or deletions; these may be detected by prenatal diagnosis
with CVS or amniocentesis. The ability to report results may be impacted by maternal BMI, maternal weight, maternal systemic lupus erythematosus (SLE) and/or by certain pharmaceutical agents such as low
molecular weight heparin (for example: Lovenox
®, Xaparin®, Clexane® and Fragmin®). The results of this testing, including the benefits and limitations, should be discussed with a qualified healthcare provider.
Pregnancy management decisions, including termination of the pregnancy, should not be based on the results of these tests alone. The healthcare provider is responsible for the use of this information in the
management of their patient.
Note
This test was developed and its performance characteristics determined by LabCorp. It has not been cleared or approved by the Food and Drug Administration. This laboratory is certified under the Clinical Laboratory
Improvement Amendments (CLIA) as qualified to perform high complexity clinical laboratory testing and accredited by the College of American Pathologists (CAP).
References
1. Palomaki GE, et al. Genet Med. 2012;14(3):296-305.
2. Mazloom AR, et al. Prenat Diag. 2013;33(6):591-597.
3. Zhao C, et al. Clin Chem. 2015 Apr;61(4):608-616.
4. Palomaki GE, et al. Genet Med. 2011;13(11):913-920.
5. ACOG/SMFM Joint Committee Opinion No. 545, Dec 2012.
Eyad Almasri, MD, PhD
Director, Sequenom Laboratories
01/10/2020
This document contains private and confidential health information protected by state and federal law. If you have received this document in error, please call 877.821.7266
MaterniT® 21 PLUS Lab Report
Page 2 of 2
Sequenom®, Sequenom Laboratories® and MaterniT® are trademarks of Sequenom ©2020 Sequenom Laboratories.
rep-1404-v1-11
19|22065-1119-1
Last, First
mm/dd/year
1234567890
<3%
Yes
Order ID: xxx1234567Last, First
Last, First
Sequenom SD-NB
03/01/2019
02/24/2019
03/01/2019
xxx1234567
1234567890
MaterniT NIPT Sample Lab Reports | 47
Table of Contents
When your current NIPT is not enough, use MaterniT
21 PLUS, the most clinically complete NIPT solution.
2-5
Time, experience and confidence are valuable resources in any practice. MaterniT 21 PLUS performs in key areas that
ensure your time is spent wisely, delivering fast, reliable, and eective prenatal screening results.
Integrated Genetics has run over 1 million non-invasive prenatal tests (NIPT) since pioneering the technology in 2011,
including more than 30,000 twins and more than 50,000 genome-wide tests;
6
the depth of experience you should
expect from an NIPT.
Now oering more screening options and flexibility than other NIPTs,
2-5
including GENOME-Flex – the first NIPT high
risk pathway – MaterniT 21 PLUS will deliver more value to your practice, and more service to your patients.
MaterniT® GENOME MaterniT® 21 Plus Other NIPTs**
Trisomy 13, 18, 21
Fetal sex
*
*
Sex chromosome
aneuploidies
*
Microdeletions
*
Trisomy 16, 22
*
GENOME-Flex high
risk pathway
Genome-wide with
subchromosomal CNVs
*Optional feature. **Panorama® Prenatal Screen
2
by Natera, Prelude
TM
Prenatal Screen
3
by Counsyl, Innatal
TM
Prenatal Screen
4
by Progenity, Harmony®
Prenatal Test
5
by Roche.
Now with
GENOME-Flex™,
a new NIPT high
risk pathway
1
MaterniT NIPT Sample Lab Reports | 48
Table of Contents
Test name Test no. Fetal sex opt-out
MaterniT 21 PLUS 451927 451951
MaterniT 21 PLUS + SCA* 451934 452112
MaterniT 21 PLUS + ESS** 451931 452136
MaterniT 21 PLUS + ESS + SCA 451937 452122
GENOME-Flex (Add On) 452104 n/a
GENOME-Flex (Add On) Redraw 452114 n/a
MaterniT GENOME 451941 452106
* Sex chromosome aneuploidies ** Enhanced sequencing series *
1 x 10 mL cell-free
DNA Strecktube
REFERENCES
1. Illumina. https://www.illumina.com/clinical/illumina_clinical_laboratory/verifi-prenatal-tests.html. Accessed August 15, 2018.
2. Natera. https://www.natera.com/panorama-test/clinical-information. Accessed August 15, 2018.
3. Counsyl. https://www.counsyl.com/services/prelude/clinical-info. Accessed August 15, 2018.
4. Progenity. https://progenity.com/tests/innatal. Accessed August 15, 2018.
5. Harmony. https://www.harmonytestusa.com/healthcare-professionals/providing-harmony. Accessed August 15, 2018.
6. Internal data
Toll-free (within the US)
877.821.7266
www.integratedgenetics.com
Outside US: 858.202.9000
Fax: 858.202.9108
Domestic inquiries:
askSQNMCS@labcorp.com
International inquiries:
sqnm-[email protected]
MaterniT NIPT physician hotline:
877.635.7105 (within the US)
Sequenom Laboratories
3595 John Hopkins Court
San Diego, CA 92121
View short videos on genetic testing:
www.integratedgenetics.com/videos
Sequenom and Integrated Genetics are both brands of
Laboratory Corporation of America® Holdings. Sequenom,
Inc. is a wholly owned subsidiary of Laboratory Corporation of
America Holdings. Sequenom Center for Molecular Medicine,
LLC d/b/a Sequenom Laboratories, is a wholly owned
subsidiary of Sequenom, Inc. Integrated Genetics is a brand
used by Esoterix Genetic Laboratories, LLC, a wholly owned
subsidiary of Laboratory Corporation of America Holdings.
© 2020 Laboratory Corporation of America® Holdings. All rights reserved. | rep-1355-v1-0320 | L22539-0320-1