I. Witters et al., Associated malformations and chromosomal anomalies in 42 cases of prenatally diagnosed diaphragmatic hernia, AM J MED G, 103(4), 2001, pp. 278-282
We present a retrospective study of the frequency and type of associated ma
lformations and chromosomal anomalies in 42 consecutive cases of congenital
diaphragmatic hernia (CDH) diagnosed in utero during the period from 1985
to 1999. In 26% (11/42) of the cases, associated malformations were detecte
d. Chromosomal anomalies were present in 9.5% (4/42). In this group of 15 c
ases (15/42 = 36%) with associated malformations or chromosomal anomalies,
all cases, except one, had prenatal sonographic evidence of additional prob
lems. The survival rate of fetuses with CDH and associated malformations or
chromosomal anomalies was poor (1/15). Therefore, the overall survival rat
e of in utero-diagnosed CDH was only 31% (13/42), while isolated left CDH h
ad a survival rate of 52% (12/23). The in utero diagnosis of CDH implies a
detailed echographic examination to exclude additional anomalies. The risk
for a syndromal or chromosomal malformation becomes small when no additiona
l anomalies are seen on ultrasound. (C) 2001 Wiley-Liss, Inc.