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The epidemic of abnormal copy number variant cases missed because of reliance upon noninvasive prenatal screening
Author(s) -
Evans Mark I.,
Andriole Stephanie,
Curtis Jenifer,
Evans Shara M.,
Kessler Alan A.,
Rubenstein Andrew F.
Publication year - 2018
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5275
Subject(s) - copy number variation , medicine , concomitant , prenatal diagnosis , down syndrome , obstetrics , pregnancy , false positive rate , comparative genomic hybridization , pediatrics , fetus , biology , genetics , genome , psychiatry , gene , statistics , mathematics
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‐vetted expectations for the diagnosis of abnormal copy number variants (CNVs). Results Our DP fell 40% from 2013‐2017. Utilization of aCGH for DP nearly tripled. We detected 28 abnormal CNVs. If DP had not fallen, we likely would have detected 60. With 4 million US births per year, 2 million DPs would detect 30 000 abnormal CNVs and 4000 standard aneuploidies. At a 1/500 complication—pregnancy loss rate, the detection/complication ratio is 8.5/1. Conclusions Noninvasive prenatal screening has significantly changed the practice of prenatal screening. However, while increasing the detection of Down syndrome, the concomitant decrease in DP and lack of aCGH results in missing many more abnormalities than the increase in Down syndrome and complications of DP combined. From a public health perspective, such represents a missed opportunity for overall health care delivery.