Complementary role of echocardiography, karyotyping, and chromosomal microarray in congenital cardiac anomalies

Echocardiography remains the cornerstone for the prenatal detection of fetal heart malformations. When combined with karyotyping and CMA, 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.

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Publication Details

Journal
Frontiers in Medicine
Published
2025-08-29
DOI
https://doi.org/10.3389/fmed.2025.1586161
Citations
1
Primary Topic
Congenital Heart Disease Studies
Type
article
Field-Weighted Citation Impact
1.35
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Complementary role of echocardiography, karyotyping, and chromosomal microarray in congenital cardiac anomalies

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Complementary role of echocardiography, karyotyping, and chromosomal microarray in congenital cardiac anomalies

Jun Yin, Huang‐Tz Ou, Qian Cao, Xiaomeng Zhang, Junru Wang, Bin Zhang, Xia Li, Shuqiong Xu, Qingsong Wang, Xianzhong Xiao, Xianmin Wang, Zhihui Zhao, Tongyong Luo
article en
1 citations

Abstract

Echocardiography remains the cornerstone for the prenatal detection of fetal heart malformations. When combined with karyotyping and CMA, 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.

Frontiers in MedicineVol. 12
Chengdu Medical College (CN), Sichuan University (CN), West China Hospital of Sichuan University (CN), Chengdu Women's and Children's Central Hospital (CN)
Openalex Percentile: Top 16%
Congenital Heart Disease Studies
1.35
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