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Prenatal Carrier Screening for Spinal Muscular Atrophy

9 Sept 2016

Abstract excerpt

Introduction Spinal muscular atrophy (SMA), a neurodegenerative genetic disorder, affects 1:5,000 to 1:10,000 infants. Carrier rates are 1:25 to 1:50. We implemented ACOG-endorsed prenatal SMA screening in mid-2014 and sought to assess uptake, observed carrier rate, and providers' knowledge and attitudes toward genetic conditions and carrier screening. Methods Retrospective cohort study of all patients receiving...

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PMID: 27611803
DOI: 10.1055/s-0036-1593347

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