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Article

Trio exome sequencing is highly relevant in prenatal diagnostics

27 Dec 2021

Abstract excerpt

OBJECTIVE: About 3% of newborns show malformations, with about 20% of the affected having genetic causes. Clarification of genetic diseases in postnatal diagnostics was significantly improved with high-throughput sequencing, in particular through whole exome sequencing covering all protein-coding regions. Here, we aim to extend the use of this technology to prenatal diagnostics. METHOD: Between 07/2018 and...

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Share to Fetal and Pediatric Neurological Disorders
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PMID: 34958143
DOI: 10.1002/pd.6081

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