67 Multicenter prospective study of SNP-based cfDNA for 22q11.2 deletion in 18,289 pregnancies with genetic confirmation

Cell free DNA (cfDNA) screening for pathogenic copy number variants (CNV) such as 22q11.2 deletion syndrome (22q11.2DS) is clinically available. Data on test performance are limited. we report on the performance of SNP-based cfDNA in a large prenatal cohort. We hypothesized that SNP-based cfDNA can detect 22q11.2DS deletions that are >500kb. Patients who had SNP-based cfDNA for aneuploidy and 22q11.2DS were recruited at 21 centers in 6...