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Article

Lessons learnt from prenatal exome sequencing

4 May 2022

Abstract excerpt

BACKGROUND: Prenatal exome sequencing (ES) for monogenic disorders in fetuses with structural anomalies increases diagnostic yield. In England there is a national trio ES service delivered from two laboratories. To minimise incidental findings and reduce the number of variants investigated, analysis uses a panel of 1205 genes where pathogenic variants may cause abnormalities presenting prenatally. Here we review...

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Share to Genomic variations and chromosomal abnormalities
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PMID: 35506549
DOI: 10.1002/pd.6165

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