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doi.org
The epidemic of abnormal copy number variant cases missed because of reliance upon noninvasive prenatal screening
September 2018 • Mark I. Evans, Stephanie Andriole, Jenifer Curtis, Shara M. Evans, Alan Kessler, Andrew Rubenstein
Abstract Objective To assess the implications of increasing utilization of noninvasive prenatal screening (NIPS), which may reach 50% with the concomitant decrease in diagnostic procedures (DPs) for its impact on detection of chromosomal abnormalities. Methods We studied our program's statistics over 5 years for DPs and utilization of array comparative genomic hybridization (aCGH). We then modeled the implications in our program if DP had not fallen and nationally of a 50% DP and aCGH testing rate using well‐vette…