Abstract
ObjectiveAs the first laboratory to offer massively parallel sequencing-based noninvasive prenatal testing (NIPT) for fetal aneuploidies, Sequenom Laboratories has been able to collect the largest clinical population experience data to date, including >100,000 clinical samples from all 50 U.S. states and 13 other countries. The objective of this study is to give a robust clinical picture of the current laboratory performance of the MaterniT21 PLUS LDT.Study DesignThe study includes plasma samples collected from patients with high-risk pregnancies in our CLIA–licensed, CAP-accredited laboratory between August 2012 to June 2013. Samples were assessed for trisomies 13, 18, 21 and for the presence of chromosome Y-specific DNA. Sample data and ad hoc outcome information provided by the clinician was compiled and reviewed to determine the characteristics of this patient population, as well as estimate the assay performance in a clinical setting.ResultsNIPT patients most commonly undergo testing at an average of 15 weeks, 3 days gestation; and average 35.1 years of age. The average turnaround time is 4.54 business days and an overall 1.3% not reportable rate. The positivity rate for Trisomy 21 was 1.51%, followed by 0.45% and 0.21% rate for Trisomies 18 and 13, respectively. NIPT positivity rates are similar to previous large clinical studies of aneuploidy in women of maternal age ≥35 undergoing amniocentesis. In this population 3519 patients had multifetal gestations (3.5%) with 2.61% yielding a positive NIPT result.ConclusionNIPT has been commercially offered for just over 2 years and the clinical use by patients and clinicians has increased significantly. The risks associated with invasive testing have been substantially reduced by providing another assessment of aneuploidy status in high-risk patients. The accuracy and NIPT assay positivity rate are as predicted by clinical validations and the test demonstrates improvement in the current standard of care.
Highlights
Since the first commercial offering of Non-invasive Prenatal Testing (NIPT) by massively parallel sequencing (MPS) in October of 2011, the clinical adoption of NIPT for use in the screening of high risk pregnant patients for the detection of chromosome aneuploidies has grown significantly
NIPT positivity rates are similar to previous large clinical studies of aneuploidy in women of maternal age $35 undergoing amniocentesis
The risks associated with invasive testing have been substantially reduced by providing another assessment of aneuploidy status in high-risk patients
Summary
Since the first commercial offering of Non-invasive Prenatal Testing (NIPT) by massively parallel sequencing (MPS) in October of 2011, the clinical adoption of NIPT for use in the screening of high risk pregnant patients for the detection of chromosome aneuploidies has grown significantly. As the first laboratory to offer massively parallel sequencing based NIPT for aneuploidy testing, we have been able to accrue the largest clinical experience population dataset to-date including samples from all 50 U.S states, as well as 13 international countries. From these 100,000 clinical samples we are able to accurately convey the clinical laboratory experience for healthcare providers who select NIPT, examine the results of testing as compared to previous clinical validations and current standards of care, assess the clinical impact on a broader scale, and include examples of the unique clinical findings that were uncovered through testing. The objective of this study is to give a complete and robust clinical picture of the current performance of NIPT for trisomy 13, 18, and 21.
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