DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study

Validation study of MaterniT21 for Trisomy 21 • International collaboration of 27 prenatal diagnostic centers • 4,664 singleton pregnancies • NIPT samples collected from women high-risk for Trisomy 21 pursuing prenatal diagnostic testing • NIPT T21 Detection rate = 98.6% (209 of 212) • False positive rate = 0.2% (3/1471) • Failures/non-reportable rate = 0.9% (13/1471) – all failures were in euploid pregnancies