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Prenatal diagnosis of six major cardiac malformations in Europe--a population based study
E Garne1,
1University of Southern Denmark, Odense C.
Insights
Prenatal diagnosis rates for major congenital heart defects vary significantly across Europe, with higher detection for ventricular malformations. Late diagnosis is common, but fetal death risk appears low.
Area of Science:
- Medical research
- Cardiology
- Prenatal diagnosis
Background:
- Congenital heart defects are a significant concern in European populations.
- Accurate prenatal diagnosis is crucial for managing these conditions.
Purpose of the Study:
- To analyze prenatal diagnosis data for six major cardiac malformations in low-risk European populations.
- To identify regional variations in detection rates and timing.
Main Methods:
- Utilized data from 12 European registries of congenital malformations (Eurocat).
- Focused on hypoplastic left heart, tricuspid atresia, single ventricle, Tetralogy of Fallot, transposition of great arteries, and common atrioventricular canal.
- Standardized data collection and coding across registries.
Main Results:
- Significant regional disparities in prenatal detection rates were observed across Europe.
- Detection rates were higher for ventricular malformations (46%) compared to other types (24%).
- Diagnosis often occurred late, with only one-third identified before 24 weeks gestation; fetal death risk was low.
Conclusions:
- Substantial geographical differences exist in the prenatal detection of major cardiac malformations within Europe.
- Improving prenatal screening and diagnosis is essential for better management of congenital heart disease.
Aim:
To present data on prenatal diagnosis of six major cardiac malformations in low-risk European populations.
Methods:
Data from 12 Eurocat registries on congenital malformations. All registries have multiple sources of information and use the same methods of data collection and coding. The six cardiac malformations included were hypoplastic left heart, tricuspid atresia, single ventricle, Tetralogy of Fallot, transposition of great arteries and common A-V-canal.
Results:
There were significant differences in the proportion of cases diagnosed prenatally, with the highest detection rate in France (91% for single ventricle in Paris) and the lowest detection rate in countries without prenatal ultrasound screening (no cases diagnosed prenatally in the Danish registry area). Prenatal detection rate was significantly higher for the three malformations affecting the size of the ventricles (hypoplastic left heart, tricuspid atresia, single ventricle) compared to the other three malformations (46% versus 24%, p<0.001). Time of diagnosis was late, with only one third diagnosed before 24 weeks of gestation. The risk of fetal death seems to be low.
Conclusion:
There are significant regional differences in prenatal detection rate of major cardiac malformations in Europe.