DIAPHRAGMATIC AGENESIS AS A DISTINCT CLINICAL ENTITY

Anatomically, diaphragmatic agenesis (DA) is the most extreme form of congenital diaphragmatic defect, but clinically it has not been define d separately from Bochdalek's hernia (BH). Between 1986 and 1992, the authors treated 55 neonates who had diaphragmatic defects. Forty eight of the cases presented within 24 hours of birth. Seventeen of these n eonates (35.4%) were found to have DA; the other 31 (64.6%) had BH. Th ere were no significant differences in maternal age, gestational age, gender ratio, birth weight, and incidence of coexisting congenital ano malies between the two groups. However, neonates with DA differed sign ificantly from those with BH with respect to incidence of antenatal di agnosis (76.4% v 12.5%, P = .0004), mean Apgar scores at 1 (4.1 +/- 2. 0 v 5.7 +/- 2.3; P = .034) and 5 (5.5 +/- 2.7 v 7.6 +/- 2.2; P = .016) minutes, mean duration of preoperative stabilization (2.8 +/- 2.0 v 2 .1 +/- 1.9 days; P = .044), and postoperative respiratory support (27. 7 +/- 13.6 v 9.3 +/- 8.0 days; P = .002). Complications occurred in al l seven DA survivors (100%) and in only four (19.0%) of the 21 BH surv ivors (P = .0008). The long-term survival rate was significantly lower for neonates with DA (29.4% v 64.5%; P = .04). Diaphragmatic agenesis is a distinct clinical entity; its unique short- and long term proble ms require careful management. Copyright (C) 1995 by W.B. Saunders Com pany