Related Experiment Videos
Fetal echocardiography in trisomy 18
D Moyano1, I C Huggon, L D Allan
1King's College Hospital, Denmark Hill, London, SE5 9RS, UK. Dolores_moyano@yahoo.es
Summary
Fetal echocardiography detects cardiac anomalies in most trisomy 18 cases, revealing a wide spectrum of heart defects. Reliable diagnosis is possible even in the first trimester.
Area of Science:
- Fetal medicine
- Cardiology
- Genetics
Background:
- Pathological series indicate universal cardiac malformations in trisomy 18.
- This study compares fetal echocardiography findings with existing pathological and echocardiographic data.
Purpose of the Study:
- To evaluate the utility of fetal echocardiography in detecting cardiac malformations in trisomy 18.
- To compare echocardiographic findings with pathological data.
Main Methods:
- Retrospective analysis of 174 fetuses with trisomy 18 evaluated by fetal echocardiography between 1999 and 2004.
- Comparison with four previous echocardiographic and four autopsy series.
- Analysis of cardiac findings based on gestational age at examination.
Main Results:
- Abnormal cardiac findings were detected in 73% (118/162) of evaluable fetuses.
- Common malformations included ventricular septal defects, tetralogy of Fallot, left heart disease, and atrioventricular septal defects.
- Diagnostic images were non-diagnostic in 7% of cases, primarily those examined before 15 weeks gestation.
Conclusions:
- Fetal echocardiography can identify cardiac anomalies in the majority of trisomy 18 cases.
- A diverse range of heart defects is observed.
- Reliable diagnosis of cardiac malformations is feasible in the first trimester.