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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

Archives of Disease in Childhood. Fetal and Neonatal Edition

|May 26, 2005

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.

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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.

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