COMPARATIVE EPIDEMIOLOGY OF SELECTED MIDLINE CONGENITAL-ABNORMALITIES

We present comparative epidemiologic characteristics of five congenita l abnormalities that have been suggested to result from midline abnorm al developmental disturbances: esophageal atresia with or without trac heoesophageal fistula (EA/TEF), imperforate anus with or without fistu la (IA/F), omphalocele (OM), bladder exstrophy (BE), and diaphragmatic hernia (DH). The purpose was to assess the extent of epidemiologic si milarities among these five defects. Data were collected as part of a population-based case-control study of infants with these defects born to mothers residing in Maryland, Washington, D.C., or Northern Virgin ia from 1980 through 1987. The estimated annual birth prevalences (per 10,000 live births) and 95% confidence intervals (CI) of these five d efects were 0.40 (0.26-0.61) for BE, 1.34 (1.08-1.67) for OM, 1.59 (1. 29-1.95) for DH, 2.11 (1.76-2.53) for EA/TEF, and 2.97 (2.55-3.46) for IA/F. The birth prevalence of IA/F and DH increased between 1980 and 1987. In contrast to the other four defects, DH showed a significant m ale preponderance (rate ratio 1.57, 95% CI 1.03-2.47), a significant w hite excess (rate ratio white:other, 1.56, 95% CI 1.00-2.48), and a lo wer proportion of multiple associated defects (30% vs. 46-61%). We con cluded from this study that the descriptive epidemiology of diaphragma tic hernia is different from that of the other four defects. This find ing may imply differences in etiologic and pathogenetic mechanisms und erlying DH. (C) 1994 Wiley-Liss, Inc.