Deletion 15q24-26 in prenatally detected diaphragmatic hernia: increasing evidence of a candidate region for diaphragmatic development

Survival of children with congenital diaphragmatic hernia (CDH) is mainly d ependent on the extent of lung hypoplasia and the presence of additional co ngenital anomalies or chromosomal aberrations. A chromosomal deletion 15q25 -q26.2 in a fetus with prenatally diagnosed CDH and growth retardation is r eported. Despite optimal pre- and neonatal management the baby died shortly after birth. There is increasing evidence that the long arm of chromosome 15, and especially the region 15q24 to 15q76, plays a crucial role in the d evelopment of the diaphragm. The finding of a deletion within 15q24-26 in a fetus with CDH has to be considered a predictor of poor prognosis. It is o f utmost interest for proper parental counselling to search in fetuses with CDH for subtle chromosomal lesions paying special attention to chromosome 15q. Copyright (C) 2001 John Wiley & Sons. Ltd.