Congenital diaphragmatic hernia: evaluation of prenatal diagnosis in 20 European regions

Objective To evaluate prenatal diagnosis of congenital diaphragmatic hernia by ultrasound in well-defined European populations. Design Data from 20 registries of congenital malformations in 12 European countries were included. The prenatal ultrasound screening programs in the countries ranged from no routine screening to three ultrasound investigations per patient being routinely performed. Results There were 187 cases with congenital diaphragmatic hernia, with an overall prenatal detection rate of 59% (110/187). There was considerable variation in prenatal detection rate between regions. There Was a significant difference in the detection rate of isolated congenital diaphragmatic hernia (59/116, 51%) compared with congenital diaphragmatic hernia associated with multiple malformations, karyotype anomalies or syndromes (51/71, 72%) (P = 0.01). Termination of pregnancy was performed in 39 cases (21%) of which 14 cases were isolated congenital diaphragmatic hernia. Mean gestational age at discovery was 24.2 weeks (range, 11-38 weeks). Conclusions The overall prenatal detection rate of congenital diaphragmatic hernia is high (59%) but varies significantly between European regions. The gestational age at discovery was greater than 24 weeks in half of the prenatally diagnosed cases.