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Noninvasive Prenatal Screening 2016 ACMG Position Statement

December 28, 20164 min
Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics Anthony R. Gregg, MD, MBA, Brian G. Skotko, MD, MPP, Judith L. Benkendorf, MS, Kristin G. Monaghan, PhD, Komal Bajaj, MD, Robert G. Best, PhD, Susan Klugman, MD and Michael S. Watson, MS, PhD Gregg, AR et al. Noninvasive prenatal screening for fetal aneuploidy: 2016 update Abstract Noninvasive prenatal screening using cell-free DNA (NIPS) has been rapidly integrated into prenatal care since the initial American College of Medical Genetics and Genomics (ACMG) statement in 2013. New evidence strongly suggests that NIPS can replace conventional screening for Patau, Edwards, and Down syndromes across the maternal age spectrum, for a continuum of gestational age beginning at 9–10 weeks, and for patients who are not significantly obese. This statement sets forth a new framework for NIPS that is supported by information from validation and clinical u

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