Congenital diaphragmatic hernia: prenatal diagnosis, outcome and continuing morbidity in survivors

Objective To improve counselling by investigating the prenatal diagnosis, o utcome and morbidity in survivors of congenital diaphragmatic hernia. Setting Prenatal Diagnosis Unit, Oxford Radcliffe Women's Centre, Oxford. Design Cohort study. Sample Babies with congenital diaphragmatic hernia diagnosed postnatally an d born to women scanned prenatally identified between January 1991 and Dece mber 1996. Methods Associated anomalies, outcome of pregnancy and final diagnoses were determined from hospital records. A report from the general practitioner a nd paediatrician recorded health and development information. Main outcome measures Accuracy of prenatal diagnosis, survival of cases of congenital diaphragmatic hernia and presence of ongoing morbidity in surviv ors. Results There were 35 pregnancies with congenital diaphragmatic hernia, nin e of which were not diagnosed prenatally. In 22 pregnancies with isolated c ongenital diaphragmatic hernia, four were terminated, there were six perina tal deaths and two later deaths. Thirteen of 35 cases (37%) with congenital diaphragmatic hernia were associated with other abnormalities: four with a bnormal karyotype and nine with other structural anomalies. Five of these w omen continued with their pregnancy; there were two neonatal deaths and thr ee survivors. Thirteen of 35 infants (37%) survived, eight with chronic dis orders requiring specialist intervention including respiratory problems (n = 6); developmental delay (n = 4); poor growth (n = 5); artificial feeding (n = 3); gastro-oesophageal reflux (n = 3); recur rent hospital admissions (n = 6); and further surgery (n = 4). Conclusions The survival for infants born alive with congenital diaphragmat ic hernia was 56% (13/23), 61% of whom have persistent disorders. Despite a dvances in neonatology there is a high mortality and morbidity with congeni tal diaphragmatic hernia. Prenatal counselling should reflect this.