Whole exome sequencing analysis of 37 fetuses with cardiac abnormalities

VernacularTitle:心脏异常胎儿37例的全外显子组测序分析
Author: Xiayuan XU ¹ ; Fenglei YE ; Jun ZHANG ; Keqin JIN ; Qian SHEN ; Shuangshuang SHEN ; Fan JIN
Author Information

1. 浙江大学医学院附属妇产科医院生殖遗传科　生殖遗传教育部重点实验室，杭州　310006
Keywords: Whole exome sequencing; Congenital heart disease; Prenatal diagnosis
From: Chinese Journal of Medical Genetics 2024;41(8):903-908
CountryChina
Language:Chinese
Abstract: 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.