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Conotruncal anomalies in prenatal life
D Paladini1, M Rustico, T Todros
1Department of Gynecology and Obstetrics, University Federico II of Naples, Italy.
Summary
Conotruncal anomalies diagnosed in utero have a poorer prognosis, often linked to chromosomal and extracardiac issues. These associations frequently result in pregnancy termination or early infant death.
Area of Science:
- Cardiology
- Medical Genetics
- Prenatal Diagnosis
Background:
- Conotruncal anomalies are complex congenital heart defects.
- Intrauterine diagnosis impacts congenital heart defect prognosis.
- Associated anomalies can complicate management and outcomes.
Purpose of the Study:
- To analyze intrauterine factors influencing the prognosis of conotruncal anomalies.
- To investigate the association of chromosomal and extracardiac anomalies with conotruncal defects.
- To evaluate pregnancy and surgical outcomes in affected neonates.
Main Methods:
- Retrospective multicenter study.
- Analysis of 67 cases of conotruncal anomalies.
- Data collection on referral reasons, chromosomal/extracardiac anomalies, and outcomes.
Main Results:
- Chromosomal aberrations found in 18.3% of cases with available karyotypes.
- Extracardiac malformations present in 37.3% of cases.
- Tetralogy of Fallot and double-outlet right ventricle showed higher rates of associated anomalies.
- Poor prenatal diagnosis (31% abnormal four-chamber view).
- High rates of pregnancy termination (41.7%), intrauterine death (8.9%), and neonatal death (23.8%).
Conclusions:
- Intrauterine diagnosis of conotruncal anomalies is associated with a poorer prognosis.
- Frequent co-occurrence with chromosomal and extracardiac anomalies contributes to adverse outcomes.
- Early detection and management are crucial for improving survival rates in conotruncal anomalies.