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Reproductive male partner testing when the female is identified to be a genetic disease carrier

11 Sept 2020

Abstract excerpt

OBJECTIVE: To quantify carrier testing uptake rates for male partners of women found to be a carrier(s) for autosomal recessive conditions and to understand reasons for declining testing (uptake rate). METHODS: A retrospective chart review of 513 female patients seen at Rutgers-Robert Wood Johnson Medical School found to be carriers through expanded carrier screening (ECS) panels. The aims of this study were to...

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PMID: 32902862
DOI: 10.1002/pd.5824

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