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Exome sequencing improves genetic diagnosis of fetal increased nuchal translucency.
Prenatal Diagnosis ( IF 3 ) Pub Date : 2020-07-15 , DOI: 10.1002/pd.5789
Xin Yang 1 , Lv-Yin Huang 1 , Min Pan 1 , Li-Li Xu 1 , Li Zhen 1 , Jin Han 1 , Dong-Zhi Li 1
Affiliation  

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.

中文翻译:

外显子组测序改善了胎儿颈部半透明增加的基因诊断。

这项回顾性研究的目的是确定早期妊娠孤立的颈部半透明 (NT) 增加的胎儿的单基因综合征,以便提供更准确的父母咨询。
更新日期:2020-07-15
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