Strategies to minimize false positives and interpret novel microdeletions based on maternal copy-number variants in 87000 noninvasive prenatal screens

摘要

BackgroundNoninvasive prenatal screening (NIPS) of common aneuploidies using cell-free DNA from maternal plasma is part of routine prenatal care and is widely used in both high-risk and low-risk patient populations. High specificity is needed for clinically acceptable positive predictive values. Maternal copy-number variants (mCNVs) have been reported as a source of false-positive aneuploidy results that compromises specificity.