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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...
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