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Updated: Jul 19, 2026
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A Pipeline to Characterize Structural Heart Defects in the Fetal Mouse
Published on: December 16, 2022
Right aortic arch detected in fetal life
1Department of Obstetrics and Prenatal Medicine, Rheinische Friedrich-Wilhelms-Universität, Bonn, Germany. christoph.berg@ukb.uni-bonn.de
Summary
Right aortic arch (RAA) detected prenatally often indicates associated cardiac defects, heterotaxy syndromes, or 22q11 microdeletions. The specific type of RAA influences these associated conditions and the overall patient outcome.
Area of Science:
- Fetal Medicine
- Cardiovascular Development
- Medical Genetics
Background:
- Right aortic arch (RAA) is a rare congenital anomaly.
- Prenatal diagnosis of RAA is crucial for identifying associated abnormalities and predicting outcomes.
Purpose of the Study:
- To evaluate the prenatal distribution of different types of right aortic arch.
- To identify associated conditions and outcomes for fetuses with RAA.
Main Methods:
- Retrospective review of 71 fetal cases of RAA diagnosed between 1998 and 2005.
- Analysis of RAA types, associated cardiac and extracardiac malformations, genetic abnormalities, and outcomes.
Main Results:
- RAA types included RAA with aberrant left subclavian artery (37%), RAA with mirror-image branching (32%), RAA of unknown type (28%), and double aortic arch (3%).
- Mirror-image branching RAA was consistently associated with cardiac defects like Tetralogy of Fallot. RAA of unknown type often linked to heterotaxy syndromes.
- Microdeletion 22q11 was found in 10% of cases, frequently associated with extracardiac malformations. Outcomes were primarily determined by associated anomalies.
Conclusions:
- Prenatal diagnosis of RAA frequently reveals associated cardiac and non-cardiac malformations, heterotaxy syndromes, and 22q11 microdeletions.
- The specific branching pattern of RAA influences the spectrum of associated conditions and clinical outcomes.
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