Prenatal diagnosis of six major cardiac malformations in Europe - A population based study

Aim. To present data on prenatal diagnosis of six major cardiac malformatio ns in low-risk European populations. Methods. Data from 12 Eurocat registries on congenital malformations. All r egistries have multiple sources of information and use the same methods of data collection and coding. The six cardiac malformations included were hyp oplastic left heart, tricuspid atresia, single ventricle, Tetralogy of Fall ot, transposition of great arteries and common A-V-canal. Results. There were significant differences in the proportion of cases diag nosed prenatally, with the highest detection rate in France (91% for single ventricle in Paris) and the lowest detection rate in countries without pre natal ultrasound screening (no cases diagnosed prenatally in the Danish reg istry 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 malforma tions (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 detectio n rate of major cardiac malformations in Europe.