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Article

Current controversies in prenatal diagnosis 2: should a fetal exome be used in the assessment of a dysmorphic or malformed fetus?

3 Nov 2015

Abstract excerpt

What's already known about this topic? Whole‐exome sequencing is a comprehensive genetic test with a diagnostic yield of 25–30% in postnatal cohorts of undiagnosed patients suspected of having a genetic disorder. Reports on the use of whole‐exome sequencing prenatally are limited to case reports and small series. What does this study add? This report summarizes an oral debate presented at the 19th International...

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Share to Fetal and Pediatric Neurological Disorders
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 26525746
DOI: 10.1002/pd.4718

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