H. Narayan et al., FAMILIAL CONGENITAL DIAPHRAGMATIC-HERNIA - PRENATAL-DIAGNOSIS, MANAGEMENT, AND OUTCOME, Prenatal diagnosis, 13(10), 1993, pp. 893-901
Congenital diaphragmatic hernia (CDH) is a developmental defect of as
yet unknown aetiology which accounts for 8 per cent of all major conge
nital anomalies and is associated with up to 80 per cent mortality des
pite optimal postnatal treatment. The risk of recurrence of CDH for fu
ture sibs after one affected infant is about 2 per cent. A multifactor
ial/threshold inheritance pattern with an observed high male:female se
x ratio is currently favoured for the rare occurrence of familial CDH,
although other modes of inheritance have also been described. We repo
rt three cases of familial CDH, two of whom were brother and sister si
bs and the third was a first cousin, born within 18 months of each oth
er. The diagnosis was by ultrasound and there were several factors pre
dicting a poor outcome. The mortality in this group was 100 per cent.
The prenatal diagnosis, treatment options, the unusual genetic aspects
, outcome, and the pathology involved are discussed.