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

Glenn E. Palomaki, PhD, Edward M. Kloza, MS, Geralyn M. Lambert-Messerlian, PhD, James E. Haddow, MD, Louis M. Neveux, BA, Mathias Ehrich, MD, Dirk van den Boom, PhD, Allan T. Bombard, MD, MBA, Cosmin Deciu, MSc, Wayne W. Grody, MD, PhD, Stanley F. Nelson, MD, and Jacob A. Canick, PhD
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 
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