Congenital diaphragmatic hernia: a European population-based study of epidemiology, prenatal diagnosis and mortality

Aim To study the epidemiology and the impact of prenatal diagnosis on morta lity and morbidity in infants with isolated congenital diaphragmatic hernia (CDH). Methods Cases were identified in eight population-based registries of conge nital malformations (Eurocat) in Europe. Results A total of 183 live births were included in the study. Sixty per ce nt died and 67% of all deaths were during the first day of life. CDH was di agnosed prenatally in 39% of cases. Both mortality and morbidity were signi ficantly higher for infants diagnosed prenatally compared to those diagnose d postnatally. The Apgar score was a very sensitive indicator for survival. Gestational age at birth was significantly lower for infants diagnosed pre natally compared to those diagnosed postnatally (37.6 weeks vs. 38.8 weeks, p < 0.01). At the end of follow-up, half of the survivors were leading a n ormal life. The most frequently reported health problems were respiratory a nd gastrointestinal symptoms. Conclusions In this population-based study, mortality for infants with CDH was high (60%) and early prenatal diagnosis was a risk factor for survival. Intervention at the time of birth seems too late for the majority of newbo rn infants with CDH.