[37例心脏异常胎儿的全外显子组测序分析]
[Whole exome sequencing analysis of 37 fetuses with cardiac abnormalities].
作者信息
Xu Xiayuan, Ye Fenglei, Zhang Jun, Jin Keqin, Shen Qian, Shen Shuangshuang, Jin Fan
机构信息
Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Aug 10;41(8):903-908. doi: 10.3760/cma.j.cn511374-20230911-00125.
OBJECTIVE
To explore the genetic etiology of fetuses with congenital heart disease (CHD) through whole exome sequencing (WES).
METHODS
Thirty seven fetuses identified with CHD by prenatal ultrasonography but with negative results by chromosomal microarray analysis (CMA) at Jinhua Maternal and Child Health Care Hospital from January 2020 to June 2022 were selected as the study subjects, for whom WES was carried out.
RESULTS
WES and Sanger sequencing had detected 6 pathogenic or likely pathogenic variants, and 6 variants with unknown clinical significance. The variants had involved 15 loci within 11 genes, in addition with one copy number variation.
CONCLUSION
WES can increase the detection rate for genetic abnormalities among fetuses with CHD, which can facilitate the prenatal diagnosis, evaluation of prognosis and genetic counseling for the couples.
目的
通过全外显子组测序（WES）探索先天性心脏病（CHD）胎儿的遗传病因。
方法
选取2020年1月至2022年6月在金华市妇幼保健院经产前超声检查确诊为CHD但染色体微阵列分析（CMA）结果为阴性的37例胎儿作为研究对象，对其进行WES。
结果
WES和桑格测序检测到6个致病或可能致病的变异，以及6个临床意义不明的变异。这些变异涉及11个基因中的15个位点，此外还有一个拷贝数变异。
结论
WES可提高CHD胎儿遗传异常的检出率，有助于对夫妇进行产前诊断、预后评估和遗传咨询。
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