[Analysis of chromosomal copy number variations among 163 fetuses with echogenic bowel by using CNV-seq technology].

Panlai Shi,Duo Chen,Yaqin Hou,Ruonan Zhu,Jingjing Meng,Yanjie Xia,Peng Dai,Xiangdong Kong

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics（2022）

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摘要

The prevalence of chromosomal aneuploidies and pathogenic CNVs in fetuses with combined EB was much higher than isolated EB, and most of them may warrant termination of pregnancy. Compared with isolated EB, more attention should be paid to combined EB, for which prenatal diagnosis and genetic counseling should be carried out in time.

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