Related Experiment Videos
Comparative epidemiology of selected midline congenital abnormalities
P Yang1, M J Khoury, W F Stewart
1Department of Clinical Epidemiology and Family Medicine, University of Pittsburgh School of Medicine, PA 15261.
Insights
Diaphragmatic hernia (DH) epidemiology differs from four other midline developmental defects. This suggests unique causes and development for DH compared to imperforate anus, esophageal atresia, omphalocele, and bladder exstrophy.
Area of Science:
- Pediatric epidemiology
- Congenital abnormalities research
- Developmental biology
Background:
- Five congenital abnormalities are linked to midline developmental disturbances: esophageal atresia with or without tracheoesophageal fistula (EA/TEF), imperforate anus with or without fistula (IA/F), omphalocele (OM), bladder exstrophy (BE), and diaphragmatic hernia (DH).
- Understanding epidemiologic similarities can illuminate shared or distinct etiologic pathways.
Purpose of the Study:
- To compare the epidemiologic characteristics of five specific congenital abnormalities.
- To assess the extent of epidemiologic similarities among EA/TEF, IA/F, OM, BE, and DH.
Main Methods:
- Population-based case-control study design.
- Data collected from infants born in Maryland, Washington D.C., or Northern Virginia between 1980-1987.
- Analysis of birth prevalence, sex distribution, race, and co-occurrence of associated defects.
Main Results:
- Birth prevalences per 10,000 live births: BE (0.40), OM (1.34), DH (1.59), EA/TEF (2.11), IA/F (2.97).
- Increasing birth prevalence observed for IA/F and DH from 1980-1987.
- Diaphragmatic hernia (DH) uniquely showed male preponderance, white excess, and fewer associated defects (30%) compared to other defects (46-61%).
Conclusions:
- The descriptive epidemiology of diaphragmatic hernia (DH) is distinct from the other four studied congenital abnormalities.
- These epidemiologic differences suggest potentially divergent etiologic and pathogenetic mechanisms underlying DH.
Abstract:
We present comparative epidemiologic characteristics of five congenital abnormalities that have been suggested to result from midline abnormal developmental disturbances: esophageal atresia with or without tracheoesophageal fistula (EA/TEF), imperforate anus with or without fistula (IA/F), omphalocele (OM), bladder exstrophy (BE), and diaphragmatic hernia (DH). The purpose was to assess the extent of epidemiologic similarities 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 Virginia from 1980 through 1987. The estimated annual birth prevalences (per 10,000 live births) and 95% confidence intervals (CI) of these five defects 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 male preponderance (rate ratio 1.57, 95% CI 1.03-2.47), a significant white excess (rate ratio white:other, 1.56, 95% CI 1.00-2.48), and a lower proportion of multiple associated defects (30% vs. 46-61%). We concluded from this study that the descriptive epidemiology of diaphragmatic hernia is different from that of the other four defects. This finding may imply differences in etiologic and pathogenetic mechanisms underlying DH.