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A closer look at expanded carrier screening from a PGD perspective

12 Aug 2017

Abstract excerpt

Conventionally, the search for carrier status was based on ethnicity and/or family history and targeted to a restricted number of genetic conditions and mutations. This is now being replaced by extended panels testing for hundreds of genetic disorders with a broad range of phenotypes, in what is called 'expanded carrier screening'. While the ultimate aim of these panels is to increase the reproductive autonomy of...

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PMID: 28938745
DOI: 10.1093/humrep/dex272

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