Prenatal Chromosomal Microarray Analysis in a Large Chinese Cohort of Fetuses with Congenital Heart Defects: a Single Center Study

Overview

Journal Orphanet J Rare Dis

Publisher Biomed Central

Specialty General Medicine

Date 2024 Aug 22

PMID 39175064

Authors

Qing Lu

Laipeng Luo

Baitao Zeng

Haiyan Luo

Xianjin Wang

Lijuan Qiu

Yan Yang

Chuanxin Feng

Jihui Zhou

Yanling Hu

Tingting Huang

Pengpeng Ma

Ting Huang

Kang Xie

Huizhen Yuan

Shuhui Huang

Bicheng Yang

Yongyi Zou

Yanqiu Liu

Affiliations

Soon will be listed here.

Abstract

Background And Objectives: Congenital heart defect (CHD) is one of the most common birth defects. The aim of this cohort study was to evaluate the prevalence of chromosomal abnormalities and the clinical utility of chromosomal microarray analysis (CMA) in fetuses with different types of CHD, aiming to assist genetic counseling and clinical decision-making.

Methods: In this study, 642 fetuses with CHD were enrolled from a single center over a six-year period (2017-2022). Both conventional karyotyping and CMA were performed simultaneously on these fetuses.

Results: The diagnostic yield of CMA in fetuses with CHD in our study was 15.3% (98/642). Our findings revealed a significant increase in the diagnostic yield of CMA compared to karyotyping in fetuses with CHD. Among CHD subgroups, the diagnostic yields were high in complex CHD (34.9%), conotruncal defects (28.6%), right ventricular outflow tract obstructive defects (RVOTO) (25.9%), atrioventricular septal defects (AVSD) (25.0%) and left ventricular outflow tract obstructive defects (LVOTO) (24.1%), while those in other CHD (10.6%) and septal defects (10.9%) were relatively low. The overall detection rate of clinically significant chromosomal abnormalities was significantly higher in the non-isolated CHD group compared to the isolated CHD group (33.1% vs. 9.9%, P < 0.0001). Interestingly, numerical chromosomal abnormalities were more likely to occur in the non-isolated CHD group than in the isolated CHD group (20.3% vs. 2.0%, P < 0.0001). The rate of termination of pregnancy (TOP)/Still birth in the non-isolated CHD group was significantly higher than that in the isolated CHD group (40.5% vs. 20.6%, P < 0.0001). Compared to the isolated CHD group, the detection rate of clinically significant chromosomal abnormalities was significantly higher in the group of CHD with soft markers (35.6% vs. 9.9%, P < 0.0001) and in the group of CHD with additional structural anomalies (36.1% vs. 9.9%, P < 0.0001).

Conclusions: CMA is a reliable and high-resolution technique that should be recommended as the front-line test for prenatal diagnosis of fetuses with CHD. The prevalence of chromosomal abnormalities varies greatly among different subgroups of CHD, and special attention should be given to prenatal non-isolated cases of CHD, especially those accompanied by additional structural anomalies or soft markers.

Citing Articles

Genetic impact of copy number variations on congenital heart defects: Current insights and future directions.

Krishnamurthy N, Krishna D, Sanjana , Rathinasamy J, Kumar A, Francis A Glob Med Genet. 2025; 12(1):100008.

PMID: 39925442 PMC: 11800308. DOI: 10.1016/j.gmg.2024.100008.

Prenatal finding of isolated ventricular septal defect: genetic association, outcomes and counseling.

Chen X, Zhang Q, Lu M, Feng Q, Qin L, Liao S Front Genet. 2024; 15:1447216.

PMID: 39415979 PMC: 11479991. DOI: 10.3389/fgene.2024.1447216.

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