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Updated: Jun 18, 2025
Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System
Published on: May 5, 2018
[Whole exome sequencing analysis of 37 fetuses with cardiac abnormalities]
Xiayuan Xu1, Fenglei Ye, Jun Zhang
1Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China. jinfan@zju.edu.cn.
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.
