ORIGINAL RESEARCH article
Front. Genet.
Sec. Human and Medical Genomics
This article is part of the Research TopicInsights in Human and Medical Genomics 2024View all 10 articles
Integration of chromosome microarray analysis and whole exome sequencing whole-exome sequencing for prenatal diagnosis of fetuses presenting cardiac ultrasound anomalies
Provisionally accepted
Gui Chen1,2,3
Youlan Wu1,2,3
FANG YANG2,4
Xiang Liu5Yawen Qiang2Renhua Wu2
Fang Liu6
Weisheng Cheng1,2,3*Jing Yuan1,2,3*- 1Anhui Provincial Institute of Translational Medicine, Anhui Medical University, HEFEI, China
- 2Prenatal Diagnostic Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, HEFEI, China
- 3Department of Obstetrics and Gynecology, NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract, the First Affiliated Hospital of Anhui Medical University, HEFEI, China
- 4The First Affiliated Hospital of Anhui Medical University Department of Obstetrics and Gynecology, Hefei, China
- 5Xinjiang Second Medical College, Karamay, China
- 6Department of Laboratory Medicine, The First Affiliated Hospital of Anhui Medical University, HEFEI, China
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Background: Congenital heart disease is among the most prevalent birth defects. This study aims to evaluate the clinical utility of chromosome microarray analysis (CMA) and whole-exome sequencing (WES) in prenatal diagnosis of genetic disorders in fetuses with cardiac ultrasound abnormalities. Methods: A retrospective cohort study analyzed 469 cases exhibiting fetal cardiac anomalies identified through prenatal ultrasound from November 2022 to July 2024. The study retrospectively assessed the patients' clinical features, observations, and pregnancy outcomes. Results: Out of the 469 cases meeting the inclusion criteria, conventional karyotyping identified chromosomal aneuploidies in 17 cases (3.62%). CMA identified pathogenic or likely pathogenic findings, including both aneuploidies and copy number variants, in 35 cases, yielding a detection rate of 7.46% (95% CI: 5.24–10.21%). The incremental yield of CMA over karyotyping was 3.84%. WES was performed on 59 CMA-negative/ variants of undetermined clinical significance cases, identifying pathogenic/likely pathogenic variants in 6/59 (10.17%; 95% CI 3.82–20.87%), providing a cohort-level incremental yield of 1.28% (6/469). Conclusion: This study highlights the clinical significance of CMA and WES in the prenatal diagnosis of genetic disorders in fetuses presenting with cardiac ultrasound abnormalities. It affirms the robust utility of CMA and WES methodologies in prenatal diagnosis and genetic counseling.
Keywords: cardiac ultrasound abnormality, Chromosomal abnormality, Chromosomal microarray analysis, congenital heart disease, Prenatal Diagnosis, Whole-exome sequencing
Received: 17 Jul 2025; Accepted: 10 Dec 2025.
Copyright: © 2025 Chen, Wu, YANG, Liu, Qiang, Wu, Liu, Cheng and Yuan. 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:
Weisheng Cheng
Jing Yuan
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