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Article

Exome sequencing improves genetic diagnosis of fetal increased nuchal translucency

15 Jul 2020

Abstract excerpt

OBJECTIVE: The aim of this retrospective study is to determine the monogenic syndromes in fetuses with isolated first-trimester increased nuchal translucency (NT) in order to provide more accurate parental counseling. METHODS: Medical trio exome sequencing (ES) was performed on DNA extracted from chorionic villi in 73 fetuses with isolated first-trimester increased NT (≥3.5 mm) and normal chromosomal microarray...

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Share to Assisted Reproductive Technology and Twin Pregnancy
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

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PMID: 32668055
DOI: 10.1002/pd.5789

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