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Nationwide, Couple-Based Genetic Carrier Screening

20 Nov 2024

Abstract excerpt

BACKGROUND: Genomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in the general population, of having a child with an autosomal recessive or X-linked genetic condition. METHODS: We investigated the feasibility, acceptability, and outcomes of a nationwide, couple-based genetic carrier screening program in Australia as part of the...

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PMID: 39565987
DOI: 10.1056/nejmoa2314768

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