[Whole exome sequencing analysis of 37 fetuses with cardiac abnormalities].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi

Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310006, China.

Published: August 2024

AI Article Synopsis

  • The study aims to investigate the genetic causes of congenital heart disease (CHD) in fetuses using whole exome sequencing (WES) after previous negative chromosomal tests.
  • Researchers analyzed 37 fetuses with CHD who had inconclusive chromosomal microarray results, identifying several genetic variants using WES.
  • The findings suggest that WES can improve genetic detection rates in CHD cases, aiding in prenatal diagnosis, prognosis assessment, and genetic counseling for affected families.

Article 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.

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Source
http://dx.doi.org/10.3760/cma.j.cn511374-20230911-00125DOI Listing

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