Anatomically, diaphragmatic agenesis (DA) represents the most extreme
form of congenital diaphragmatic defects, but clinically it has not be
en defined separately from Bochalek's hernia (BH). Between 1986 and 19
92, the authors treated 55 neonates who had diaphragmatic defects. For
ty-eight of them presented within 24 hours of birth and comprised the
study group. Seventeen neonates (35.4%) were found to have DA; the oth
er 31 (64.6%) had BH. There were no differences in the maternal age, g
estation course, gender ratio, birth weight, or incidence of co-existi
ng congenital anomalies between the two groups. However, there were si
gnificant differences with respect to the incidence of antenatal diagn
osis (76.4% for DA patients v 12.5% for BH patients; P=.0004), mean (/-SD) Apgar scores at 1 (4.1 +/- 2.0 v 5.7 +/- 2.3; P=.034) and 5 minu
tes (5.5 +/- 2.7 v 7.6 +/- 2.2; P=.016), mean duration of preoperative
stabilization (2.8 +/- 2.0 v 2.1 +/- 1.9 days; P=.044) and mean durat
ion of postoperative respiratory support (27.7 +/- 13.6 v 9.3 +/- 8.0
days: P=.002). Complications occurred in all seven survivors of DA and
in only four (19.0%) of 21 survivors of BH (P=.0008). The neonates wi
th DA had a significantly poorer long-term survival rates (29.4% v 64.
5%; P=.04). Diaphragmatic agenesis is a distinct clinical entity; its
unique short-term and long-term problems require careful management. C
opyright (C) 1994 by W.B. Saunders Company