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

OBJECTIVE

To improve counselling by investigating the prenatal diagnosis, outcome 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 and born to women scanned prenatally identified between January 1991 and December 1996.

METHODS

Associated anomalies, outcome of pregnancy and final diagnoses were determined from hospital records. A report from the general practitioner and 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 survivors.

RESULTS

There were 35 pregnancies with congenital diaphragmatic hernia, nine of which were not diagnosed prenatally. In 22 pregnancies with isolated congenital diaphragmatic hernia, four were terminated, there were six perinatal deaths and two later deaths. Thirteen of 35 cases (37%) with congenital diaphragmatic hernia were associated with other abnormalities: four with abnormal karyotype and nine with other structural anomalies. Five of these women continued with their pregnancy; there were two neonatal deaths and three survivors. Thirteen of 35 infants (37%) survived, eight with chronic disorders 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); recurrent hospital admissions (n = 6); and further surgery (n = 4).

CONCLUSIONS

The survival for infants born alive with congenital diaphragmatic hernia was 56% (13/23), 61% of whom have persistent disorders. Despite advances in neonatology there is a high mortality and morbidity with congenital diaphragmatic hernia. Prenatal counselling should reflect this.