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Familial congenital diaphragmatic hernia: Prenatal diagnosis, management, and outcome
Author(s) -
Narayan Harini,
De Chazal Richard,
Barrow Margaret,
McKeever Patricia,
Neale Edmund
Publication year - 1993
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970131003
Subject(s) - congenital diaphragmatic hernia , medicine , prenatal diagnosis , etiology , pediatrics , diaphragmatic hernia , multifactorial inheritance , diaphragmatic breathing , genetic counseling , hernia , fetus , surgery , obstetrics , pregnancy , pathology , genetics , genotype , alternative medicine , gene , single nucleotide polymorphism , biology
Congenital diaphragmatic hernia (CDH) is a developmental defect of as yet unknown aetiology which accounts for 8 per cent of all major congenital anomalies and is associated with up to 80 per cent mortality despite optimal postnatal treatment. The risk of recurrence of CDH for future sibs after one affected infant is about 2 per cent. A multifactorial/threshold inheritance pattern with an observed high male:female sex ratio is currently favoured for the rare occurrence of familial CDH, although other modes of inheritance have also been described. We report three cases of familial CDH, two of whom were brother and sister sibs and the third was a first cousin, born within 18 months of each other. The diagnosis was by ultrasound and there were several factors predicting 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.