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Co-Occurring Non-Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
Claude Stoll1, Yves Alembik1, Marie-Paule Roth1
1Laboratoire de Genetique Medicale, Faculte de Medecine, Strasbourg, France.
American Journal of Medical Genetics. Part A
|April 9, 2026
Summary
Congenital heart defects (CHD) frequently co-occur with other major anomalies. Approximately 26.5% of CHD cases had associated anomalies, highlighting the need for comprehensive investigation and screening for these complex conditions.
Area of Science:
- Medical Genetics
- Pediatric Cardiology
- Reproductive Medicine
Background:
- Congenital heart defects (CHD) are common birth anomalies.
- CHD often present with co-occurring congenital anomalies, impacting patient management and outcomes.
Purpose of the Study:
- To determine the prevalence and types of anomalies associated with CHD.
- To inform clinical practice regarding the investigation of CHD cases.
Main Methods:
- Population-based registry analysis of congenital anomalies.
- Inclusion of live births, stillbirths, and terminations over 29 years.
- Ascertainment of CHD and associated major anomalies in 387,067 pregnancies.
Main Results:
- Overall CHD prevalence was 119.9 per 10,000 births.
- 1228 of 4640 CHD cases (26.5%) had associated major anomalies.
- Common associated anomalies included chromosomal abnormalities (8.8%), syndromes (2.5%), and non-syndromic multiple congenital anomalies (15.2%).
Conclusions:
- One in four cases of CHD are associated with other major anomalies.
- Thorough investigation and potential routine screening for associated anomalies in CHD cases are recommended.
- Associated anomalies can be chromosomal, syndromic, or non-syndromic, necessitating a broad diagnostic approach.
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