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Updated: Jan 17, 2026
Murine Fetal Echocardiography
Published on: February 15, 2013
Complementary role of echocardiography, karyotyping, and chromosomal microarray in congenital cardiac anomalies
Jun Yin1, Xiaomeng Zhang2, Qingsong Wang3
1Department of Ultrasound, Jintang First People's Hospital, West China Hospital Sichuan University Jintang Hospital, Chengdu, Sichuan, China.
Insights
Echocardiography is key for detecting fetal heart defects. Combining it with chromosome karyotyping and chromosomal microarray analysis (CMA) maximizes the detection of genetic changes in congenital cardiac anomalies.
Area of Science:
- Medical Diagnostics
- Genetics
- Fetal Medicine
Background:
- Congenital cardiac anomalies are a significant concern in prenatal diagnostics.
- Accurate prenatal diagnosis is crucial for effective management and counseling.
Purpose of the Study:
- To evaluate the diagnostic effectiveness of echocardiography, chromosome karyotyping, and chromosomal microarray analysis (CMA) for congenital cardiac anomalies.
- To compare the diagnostic yield of these methods in fetuses with and without congenital heart disease.
Main Methods:
- Retrospective cohort study of 3,386 pregnant women.
- Analysis of data from January 2020 to August 2022.
- Comparison of echocardiography, karyotyping, and CMA diagnostic contributions.
Main Results:
- Echocardiography detected common defects like ventricular septal defects and valve abnormalities.
- Karyotyping identified chromosomal abnormalities in 6.52% of CHD cases, higher in complex cases.
- CMA detected pathogenic copy number variations (CNVs) in 5.28% of CHD cases, with an incremental diagnostic rate of 4.42% in cases with normal karyotypes.
Conclusions:
- Echocardiography is the primary tool for prenatal detection of fetal heart malformations.
- Integrating echocardiography with karyotyping and CMA enhances the detection of genetic alterations.
- This comprehensive approach provides vital genetic information for early intervention and counseling.
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 congenital 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%.
Conclusion:
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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