Congenital diaphragmatic herniation: antenatal detection and outcome

E Dillon, M Renwick, C Wright
British Journal of Radiology 2000, 73 (868): 360-5
201 fetuses and babies with a congenital diaphragmatic herniation or eventration (referred to collectively as CDH) were notified to the Northern Region Congenital Abnormality Survey (NorCAS) in the 13-year period from 1985 to 1997, an incidence of 0.25 per 1000 births. The 1-year survival of all pregnancies associated with CDH was 37%. The 1-year survival of livebirths was 50%. Antenatal scan detected the diaphragmatic defect or associated structural abnormality in 50%. Another major structural abnormality was present in 62 (31%); one of these babies survived and 26 pregnancies were terminated. This group contained four of the six antepartum stillbirths, all three intrapartum stillbirths and four of the five spontaneous miscarriages. Non-isolated CDH occurred in association with Fryns (5), Goldenhar (1) and de Lange (1) syndromes, and in 16 of 17 with a chromosome anomaly. 53% of the 139 fetuses with isolated CDH survived to 1 year of age, and 59% of the 124 liveborn survived. Of 37 fetuses with isolated CDH detected before 25 weeks gestation, 12 pregnancies were terminated. There were 11 survivors among the 25 continuing pregnancies (44%). The overall survival of babies with CDH is very poor but, when a defect is identified by ultrasound before 25 weeks gestation, chromosome analysis and a careful ultrasound scan may suggest which fetuses have an isolated diaphragmatic abnormality and a greater chance of survival.

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