DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study

Validation study of MaterniT21 for Trisomy 18 and Trisomy 13 • International collaboration of 27 prenatal diagnostic centers  • 4,664 singleton pregnancies • 62 pregnancies with Trisomy 18: Detection rate for Trisomy 18 = 100% (59/59), Trisomy 18 false positive rate – 0.3% (5/1,688) • 12 pregnancies with Trisomy 13: Detection rate for Trisomy 13 = 91.7% (11/12); Trisomy 13 false positive rate – 0.9% (16/1,688)