TY - JOUR AU - Kaseniit, Kristjan Eerik AU - Hogan, Gregory J. AU - D’Auria, Kevin M. AU - Haverty, Carrie AU - Muzzey, Dale PY - 2018 DA - 2018/10/19 TI - Strategies to minimize false positives and interpret novel microdeletions based on maternal copy-number variants in 87,000 noninvasive prenatal screens JO - BMC Medical Genomics SP - 90 VL - 11 IS - 1 AB - Noninvasive 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. SN - 1755-8794 UR - https://doi.org/10.1186/s12920-018-0410-6 DO - 10.1186/s12920-018-0410-6 ID - Kaseniit2018 ER -