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Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions

1 Dec 2022

Abstract excerpt

PURPOSE: The purpose of this study was to evaluate the clinical performance of carrier screening for cystic fibrosis, hemoglobinopathies, and spinal muscular atrophy with reflex single-gene noninvasive prenatal screening (sgNIPS), which does not require paternal carrier screening. METHODS: An unselected sample of 9151 pregnant individuals from the general US pregnant population was screened for carrier status, of...

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PMID: 36454238
DOI: 10.1016/j.gim.2022.10.014

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