Evaluation of prenatal diagnosis of congenital heart diseases by ultrasound: experience from 20 European registries

Objectives To evaluate prenatal diagnosis of congenital heart diseases by u ltrasound investigation in well-defined European populations. Design Data from 20 registries of congenital malformations in 12 European c ountries were included. The prenatal ultrasound screening Programs in the c ountries ranged from no routine screening to three ultrasound investigation s per patient routinely performed. Results There were 2454 cases with congenital heart disease with an overall prenatal detection rate of 25%. Termination of pregnancy was performed in 293 cases (12%). There was considerable variation in prenatal detection rar e between regions, with the lowest detection rates being in countries witho ut ultrasound screening (11%) and in Eastern European countries (Croatia, L ithuania and Ukraine; 8%). In Western European countries with ultrasound sc reening, detection rare ranged from 19-48%. There was a significant differe nce in prenatal detection rate and proportion of induced abortions between isolated congenital heart disease and congenital heart disease associated w ith chromosome anomalies, multiple malformations and syndromes (P < 0.0001) . There were 1694 cases with isolated congenital heart disease of which 16% were diagnosed prenatally. Malformations affecting the size of the ventric les were detected prenatally in half of the cases. Conclusions Prenatal detection rate of congenital heart disease varies sign ificantly between countries even with the same screening recommendations. T he presence of associated malformations significantly increases the prenata l detection rate.