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Expanded carrier screening for reproductive risk assessment: An evidence‐based practice guideline from the National Society of Genetic Counselors

9 Feb 2023

Abstract excerpt

Expanded carrier screening (ECS) intends to broadly screen healthy individuals to determine their reproductive chance for autosomal recessive (AR) and X-linked (XL) conditions with infantile or early-childhood onset, which may impact reproductive management (Committee Opinion 690, Obstetrics and Gynecology, 2017, 129, e35). Compared to ethnicity-based screening, which requires accurate knowledge of ancestry for...

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PMID: 36756860
DOI: 10.1002/jgc4.1676

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