Residual Risk for Clinically Significant Copy Number Variants in Low-Risk Pregnancies, Following Exclusion of Noninvasive Prenatal Screening–Detectable Findings

Abstract

(Abstracted from Am J Obstet Gynecol 2022;226:562.e1–562.e8) Recent developments in available techniques for prenatal genetic analysis have significantly changed genetic screening and diagnosis; these include chromosomal microarray analysis (CMA) and cell-free DNA (cfDNA) screening. However, both tests have benefits and drawbacks.