ORIGINAL RESEARCH article
Front. Med.
Sec. Obstetrics and Gynecology
Volume 12 - 2025 | doi: 10.3389/fmed.2025.1586161
Complementary Role of Echocardiography, Karyotyping, and Chromosomal Microarray in Congenital Cardiac Anomalies
Provisionally accepted
Jun Yin1Xiaomeng Zhang2
Qingsong Wang1*Qian Cao2Huimin Ou2Zhihui Zhao2Shuqiong Xu1Junru Wang1Li Xia2Bin Zhang2Xuemei Xiao2Xianmin Wang2
Tongyong Luo2- 1Jintang First People's Hospital, Sichuan University, Jintang County, China
- 2Sichuan Provincial Hospital for Women and Children, Chengdu, Sichuan Province, China
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Objective: To assess the diagnostic efficacy of echocardiography, chromosome karyotyping, and chromosomal microarray analysis (CMA) in congenital cardiac anomalies.Methods: This retrospective cohort study analyzed data from 3,386 pregnant women who underwent echocardiography and amniocentesis at the Sichuan Provincial Maternal and Child Health Care Hospital between January 2020 and August 2022. The study group included 697 women whose fetuses were diagnosed with ongenital heart disease (CHD) by echocardiography, while the comparison group included 2,689 women with normal echocardiographic results. The diagnostic contributions of echocardiography, karyotyping, and CMA were compared between the two groups.Results: Among the 697 cases diagnosed with CHD, the most common types were ventricular septal defect (44.45%) and valve abnormalities (40.66%). Chromosomal abnormalities were detected in 41 out of 629 CHD cases (6.52%) by karyotyping, with higher rates in complex CHD (16.36%) and CHD with extracardiac anomalies (23.08%) compared to the comparison group (4.71%). CMA identified 34 pathogenic copy number variations (CNVs) (5.28%) and 9 variants of unknown significance (VOUS) (1.40%) in 644 CHD cases, with higher CNV detection rates in complex CHD (7.69%) and CHD with extracardiac anomalies (7.69%) compared to the comparison group (1.38%). CMA further identified pathogenic CNVs in 4.42 % (26/588) of CHD cases with a normal karyotype, yielding an incremental diagnostic rate of 4.42 %.Echocardiography remains the cornerstone for the prenatal detection of fetal heart malformations. When combined with karyotyping and chromosomal microarray analysis, this integrated approach achieves maximal detection of both macroscopic and submicroscopic genomic alterations-particularly in complex cardiac malformations or when extracardiac anomalies coexist-thereby delivering timely, comprehensive genetic information to guide early intervention and tailored perinatal counseling.
Keywords: Congenital cardiac anomalies, Echocardiography, chromosome karyotyping, chromosomal microarray, Prenatal Diagnosis, Genetic Testing
Received: 07 Mar 2025; Accepted: 19 Aug 2025.
Copyright: © 2025 Yin, Zhang, Wang, Cao, Ou, Zhao, Xu, Wang, Xia, Zhang, Xiao, Wang and Luo. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Qingsong Wang, Jintang First People's Hospital, Sichuan University, Jintang County, China
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