Abstract

To the Editor: The use of cell-free DNA (cfDNA) obtained from maternal plasma to perform noninvasive prenatal screening has been rapidly integrated into the care of pregnant women who are at high risk for fetal aneuploidy. For women at low risk, a lower prevalence of fetal aneuploidy results in lower positive predictive values (PPVs). Because PPVs are largely driven by specificity, reducing the rate of false positive results will increase PPVs. Snyder et al.1 recently showed how maternal copy-number variants can contribute to false positive results generated by noninvasive prenatal testing. Here we reanalyze previously generated sequencing data from the . . .

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