Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations

In Brief OBJECTIVE: To evaluate the accuracy and diagnostic value of genome-wide noninvasive prenatal testing (NIPT) for detection fetal aneuploidies in multiple gestations, with a focus on dichorionic–diamniotic twin pregnancies. METHODS: We performed retrospective cohort study including data from pregnant women or higher-order gestation who underwent NIPT at one eight Belgian genetic centers between November 1, 2013, March 2020. Chorionicity amnionicity were determined by ultrasonography. Follow-up invasive was carried out event positive results. Sensitivity specificity calculated trisomy 21, 18, 13 cohort. RESULTS: Unique analyses 4,150 an additional 767 vanishing gestations. The failure rate gestations excluding ranged 0% to 11.7% among different centers. Overall, 4.8%, which could be reduced 1.2% after single resampling. There no common trisomies detected 86 monochorionic–monoamniotic 25 triplet cases. Two monochorionic–diamniotic twins had result indicative confirmed both fetuses. Among 2,716 sensitivity 100% (95% CI 74.12–100%) 99.86–100%) reached 21 (n=12). For 18 (n=3), respective values 75% 30.06–95.44%) specificity, (n=2), 20.65–100%) 99.96% 99.79–99.99%) specificity. group, 28 results 13, only five trisomies. CONCLUSION: Genome-wide accurately aneuploidy