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Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice

19 Mar 2021

Abstract excerpt

PURPOSE: Consanguineous couples are at increased risk of being heterozygous for the same autosomal recessive (AR) disorder(s), with a 25% risk of affected offspring as a consequence. Until recently, comprehensive preconception carrier testing (PCT) for AR disorders was unavailable in routine diagnostics. Here we developed and implemented such a test in routine clinical care. METHODS: We performed exome sequencing...

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PMID: 33742171
DOI: 10.1038/s41436-021-01116-x

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