Sequenom Laboratories presents data supporting the accuracy of its NIPT in the clinical setting

Life sciences company Sequenom, Inc., has announced that its wholly owned subsidiary, Sequenom Laboratories, recently presented patient clinical data substantiating the performance of its MaterniT21PLUS noninvasive prenatal test (NIPT) in the laboratory. An ad hoc analysis of 185,000 samples from patients at high-risk for fetal chromosome aneuploidy demonstrated stable positivity rates for trisomy 21, 18, and 13, which mirror the positivity rates found in large studies on high-risk populations utilizing invasive diagnostic procedures. Additionally, Sequenom Laboratories reported performance results from clinical testing with the MaterniT21 PLUS test with Enhanced Sequencing Series. These data were presented at last month’s National Society of Genetic Counselors Annual Educational Conference.

In the analysis, based on voluntary outcomes provided by clinicians, the estimated sensitivity for trisomy 21, 18, and 13 were 99.3%, 98.3%, and 97.4%, respectively, and the estimated specificity was >99.9% for all three trisomies. These clinical laboratory performance data are equivalent to those published in the clinical validation studies of the MaterniT21 test. Based on these performance metrics, Sequenom Laboratories estimates that the MaterniT21 PLUS test positive predictive value (PPV) for trisomy 21, 18, and 13 were 99.0%, 97.6%, and 92.8%, respectively, and the negative predictive value (NPV) was >99.9% for all three.

Sequenom Laboratories also presented results from more than 120,000 patient samples tested for clinically relevant microdeletions during 2013-2014, which were reported as additional findings as part of the MaterniT21 PLUS test with Enhanced Sequencing Series. The presentation showed data for the first 100 positive cases that were reported out to clinicians. Included were cases of 22q deletion (DiGeorge syndrome), 5p deletion (Cri-du-chat syndrome), 15q deletion (Prader-Willi/Angelman syndromes), 1p deletion (1p36), and two additional trisomies (trisomy 16 and 22). The MaterniT21 PLUS test demonstrated a low false positive rate (FPR) for the reported microdeletions. Learn more about MaterniT21 PLUS.