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The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation

2022-07-27

Abstract excerpt

Next-generation sequencing has led to a dramatic improvement in molecular diagnoses of serious pediatric disorders caused by apparently de novo mutations (DNMs); by contrast, clinicians’ ability to counsel the parents about the risk of recurrence in a future child has lagged behind. Owing to the possibility that one of the parents could be mosaic in their germline, a recurrence risk of 1-2% is frequently quoted,...

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Literature Corpus work: c0c49c21-fc2e-56bb-8b33-430e8ed9878d
DOI: 10.1101/2022.07.26.501520

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The PREGCARE study: Personalized recurrence risk assessment following the birth of a child with a pathogenic <i>de novo</i> mutation

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