62 Multicenter prospective study of SNP-based cfDNA screening for aneuploidy with genetic confirmation in 18,496 pregnancies

To evaluate performance of single nucleotide polymorphism (SNP)-based cell-free DNA (cfDNA) screening for detection of trisomies 13, 18, and 21 in a large unselected cohort with genetic confirmation. We hypothesized that performance in all risk groups is equivalent to published studies without genetic confirmation. Unselected pregnant women who had SNP-based cfDNA for T13, T18 and T21 were recruited at 21 centers in 6 countries. Genetic...