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MaterniT21 PLUS Test Validation
Performance in Laboratory
The MaterniT21 PLUS test detects fetal aneuploidies for
chromosomes 21, 18, 13 in singletons, twins and higher order
multiple pregnancies.1,2,3 The test also makes a determination for chromosomes X and Y.4 Sex chromosomal aneuploidies are not reported in multiple pregnancies.
A patient with a positive result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of test results.5 Results from this test do not eliminate the possibility that other chromosomal abnormalities may exist in this pregnancy and a negative result does not ensure an unaffected pregnancy. While results of this testing are highly accurate, not all chromosomal abnormalities may be detected due to placental, maternal or fetal mosaicism, or other causes.
Test Validation Performance
|
Clinical Verification Study |
Positive Results |
Performance |
Noninvasive Detection of Fetal Trisomy 21 by Sequencing of DNA in Maternal Blood: A Study in a Clinical Setting
Am J Obstet Gynecol. 2011;204(3):205.
450 samples |
39 of 39
trisomy 21 |
Sensitivity: >99.9% |
|
Specificity: 99.7% |
|
Clinical Validation Study |
Positive Results |
Performance |
DNA Sequencing of Maternal Plasma to Detect Down syndrome: An International Clinical Validation Study
Genet Med. Vol 13:No 11. Nov 2011.
1,696 samples |
210 of 212
trisomy 21 |
Sensitivity: 99.1% |
|
Specificity: 99.9% |
DNA Sequencing of Maternal Plasma Reliably Identifies Trisomy 18 and Trisomy 13, as well as Down syndrome: An International Collaborative Study
Genet Med. 2012;14(3):296-305.
1,988 samples |
59 of 59
trisomy 18 |
Sensitivity: >99.9% |
|
Specificity: 99.6% |
11 of 12
trisomy 13 |
Sensitivity: 91.7% |
|
Specificity: 99.7% |
DNA Sequencing of Maternal Plasma to Identify Down syndrome and Other Trisomies in Multiple Gestations
Prenat Diagn. 2012;32(8):730-734.
2,015 samples |
8 of 8 trisomies
(7 trisomy 21,
1 trisomy 13) |
Detection Rate >99.9% |
|
Y Chromosome |
Performance |
Accuracy of noninvasive prenatal fetal sex determination.
2,107 samples
|
Accuracy: 99.4% |
|
Combined Sex Aneuploidies |
Positive Results |
Performance |
45,X; 47,XXX; 47,XXY; 47,XYY
Sequenom Center for Molecular Medicine, submitted for publication, 2013.
420 samples |
25 of 26 |
Sensitivity: 96.2% |
|
Specificity: 99.7% |
References
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Palomaki GE, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13, as well as Down syndrome: An international collaborative study. Genet Med. 2012;14(3):296-305.
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Canick JA, et al. DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenat Diagn. 2012;32(8):730-734.
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Mazloom AR, et al. Accuracy of Noninvasive Prenatal Sex Determination using Massively Parallel Sequencing in Samples from a Large Clinical Validation Study. Poster presented at the 2012 Annual American Society of Human Genetics Meeting, November 6-10, 2012; San Francisco, CA.
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Sequenom Center for Molecular Medicine, submitted for publication, 2013.
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Committee opinion no. 545: Noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol. 2012;120(6):1532-1534.
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