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A population-based study of congenital diaphragmatic hernia
C P Torfs1, C J Curry, T F Bateson
1California Birth Defects Monitoring Program, Emeryville 94608.
Insights
Congenital diaphragmatic hernia (CDH) subtypes show distinct epidemiological patterns. Analyzing these differences is crucial for understanding CDH and improving public health strategies.
Area of Science:
- Epidemiology
- Medical Genetics
- Pediatric Surgery
Background:
- Congenital diaphragmatic hernia (CDH) is a complex birth defect with varying presentations.
- Previous studies suggest potential differences in CDH epidemiology based on defect type.
- Understanding these variations is key to identifying underlying causes and risk factors.
Purpose of the Study:
- To investigate demographic, maternal, and infant characteristics across different types of congenital diaphragmatic hernias.
- To determine if distinct epidemiological profiles exist for Morgagni hernia, pars sternalis hernia, and posterolateral hernia, including its subgroups.
Main Methods:
- Retrospective analysis of 237 CDH cases from a California birth population (1983-1987).
- Categorization of posterolateral hernias into isolated, multiple congenital anomalies, trisomies, and other chromosomal anomalies.
- Comparison of epidemiological data including sex ratio, maternal age, and geographic distribution across CDH types.
Main Results:
- Posterolateral hernias comprised the majority of cases, with 43% having associated anomalies.
- Morgagni and pars sternalis hernias showed trends towards lower sex ratios and higher maternal ages compared to posterolateral hernias.
- Isolated posterolateral hernias had a significantly higher male-to-female ratio and a borderline significant rural/urban prevalence difference.
Conclusions:
- Different types and subgroups of congenital diaphragmatic hernia exhibit unique epidemiological characteristics.
- Separate consideration of CDH subtypes is essential for accurate epidemiologic research and understanding pathogenesis.
- Further research into these distinct patterns may reveal specific etiologies and inform targeted interventions.
Abstract:
From 1983 through 1987, in a California population of 718,208 births, 237 infants were born with a congenital diaphragmatic hernia (CDH), a birth prevalence of 3.30 per 10,000 total births (live births and stillbirths). We proposed that the various types of this defect, characterized by their different pathogeneses, would be reflected in differences in their descriptive epidemiologies. We evaluated various demographic, maternal, and infant characteristics for three major types of defects, the Morgagni hernia, the pars sternalis hernia, and the posterolateral hernia, categorizing the latter type into isolated defect (N = 129), multiple congenital anomalies including nonchromosomal syndromes (N = 86), trisomies (N = 10), and chromosomal anomalies other than trisomies (N = 2). For the posterolateral hernia, we present the distribution of associated anomalies (43%) and specifically of midline defects (19%). Although the number of cases for the Morgagni hernia (N = 5) and the pars sternalis hernia (N = 5) were small, comparisons with the posterolateral hernia suggested lower sex ratios, of borderline significance for the pars sternalis hernia (P < 0.09), and higher mean maternal ages for both groups. Within the posterolateral type, we found a significantly higher male to female ratio (M/F = 1.58) only for the isolated subgroup compared to the population (P < 0.03), and a borderline significant rural/urban difference in prevalences (2.12 vs. 1.45 per 10,000) (P < 0.06). Additionally, the distribution of monthly prevalence rates adjusted for gestational age suggested opposite seasonal trends between the isolated and the other posterolateral hernias; within this latter subgroup the difference between the highest monthly rate (1.68) and the lowest (0.96) was of borderline significance (P < 0.09). Our results suggest the need to consider the respective types and subgroups of CDH separately in epidemiologic studies.