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Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities

4 Oct 2017

Abstract excerpt

OBJECTIVES: To evaluate the diagnostic yield of prenatal whole exome sequencing (WES) for monogenic disorders in fetuses with structural malformations and normal results on cytogenetic testing, and to describe information on pathogenic variants that is provided by WES. METHODS: Karyotyping, chromosomal microarray analysis (CMA) and WES were performed sequentially on stored samples from a cohort of 3949...

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Genomic variations and chromosomal abnormalities
Genomics and Rare Diseases
Prenatal Screening and Diagnostics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 28976722
DOI: 10.1002/uog.18915

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