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Exome sequencing improves genetic diagnosis of fetal increased nuchal translucency

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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. Click to show full abstract

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.

Keywords: exome sequencing; diagnosis; sequencing improves; nuchal translucency; increased nuchal

Journal Title: Prenatal Diagnosis
Year Published: 2020

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