Aims To determine the incidence, co-morbidities and outcome of congenital diaphragmatic hernia (CDH) in Wales.
Methods This retrospective database review used 2 data-sets-CARIS (Congenital Anomaly Register & Information Service, Wales) to determine incidence, pregnancy outcome and associated anomalies. Most CDH infants from South Wales are admitted to University Hospital of Wales, Cardiff for neonatal surgery. The neonatal database was used to determine the outcome of these infants.
Results From 1998 through 2009, there were 157 cases of CDH, an incidence of 0.39/1000. Of the 157, 41 had pregnancy termination, 5 had fetal loss and 2 were stillborn. 109 were live-born with incidence at birth of 0.28/1000. 31/157(20%) had congenital heart disease while 23/157(15%) had chromosomal disorders (trisomies commonest). Of 154 babies with identified gender, 60% were male.
Between1989 and 2010, 115 CDH infants received care in Cardiff. Mean birth-weight was 3030 g and mean gestation 38 weeks. 62% were male. 58% were inborn and antenatal diagnosis was made in 64% rising to 77% in the last 6 years. 84% were left-sided. Chromosomal anomaly was present in 3/100 (3%). 8% were referred for ECMO.31% died before surgery. Survival rate at discharge was 68%. Outborn infants (p=0.08) and those not antenatally diagnosed (p=0.04) had better survival rates possibly because of milder disease.
Conclusion The birth incidence and survival of CDH in Wales was unchanged over the study period, but antenatal diagnosis improved. 30% of antenatally diagnosed CDH did not reach the neonatal unit. The finding of male preponderance was unexpected.
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