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Population-based study of tracheoesophageal fistula and esophageal atresia
C P Torfs1, C J Curry, T F Bateson
1California Birth Defects Monitoring Program, Emeryville 94608-1811, USA.
Insights
This study analyzed over one million births, finding that esophageal atresia (EA) and tracheoesophageal fistula (TEF) have distinct epidemiological profiles. Differences in risk factors like maternal age and trisomy suggest varied developmental causes for these congenital anomalies.
Area of Science:
- Pediatric Epidemiology
- Congenital Anomalies Research
- Public Health Surveillance
Background:
- Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are serious congenital anomalies affecting the upper digestive tract.
- Understanding the distinct epidemiological characteristics of EA and TEF is crucial for identifying potential causes and improving prevention strategies.
- Previous studies have suggested shared and distinct risk factors, but comprehensive analysis across different subtypes is needed.
Purpose of the Study:
- To investigate the epidemiological features of esophageal atresia (EA), tracheoesophageal fistula (TEF) with EA (TEF/EA), and TEF without EA.
- To identify differences in prevalence, associated risk factors (maternal age, multiple births, ethnicity), and co-occurring anomalies among these defects.
- To explore potential variations in developmental pathogenesis based on observed epidemiological distinctions.
Main Methods:
- Analysis of a large multiracial population cohort (1,035,384 births) from the California Birth Defects Monitoring Program (1983-1988).
- Ascertainment and classification of EA, TEF/EA, and TEF cases.
- Statistical examination of prevalence rates, secular trends, seasonality, multiple birth rates, maternal age, ethnicity, trisomies, sex ratios, and associated anomalies (dextrocardia, hydrocephalus, VATER/VACTERL).
Main Results:
- Overall prevalence of 2.82 per 10,000 births with no significant secular or seasonal trends.
- Higher rates of multiple births and increased mean maternal age (excluding trisomies) for TEF and TEF/EA compared to EA.
- Significantly higher proportion of trisomies in EA cases (23.5%) compared to TEF (9.3%) and TEF/EA (7.4%). Male-to-female ratios varied by defect type, with trisomic types showing the lowest ratios.
Conclusions:
- EA and TEF/EA exhibit distinct epidemiological profiles, particularly concerning trisomy rates and maternal age associations, suggesting different underlying etiologies.
- The common association with single umbilical artery across most types (except trisomies) and shared presence of midline/VATER/VACTERL anomalies suggest some common developmental pathways.
- Epidemiological differences highlight the necessity of evaluating each defect and its subtypes separately to understand their unique developmental pathogenesis and susceptibilities.
Abstract:
From a multiracial population of 1,035,384 births monitored by the California Birth Defects Monitoring Program (CBDMP) from 1983 to 1988, we ascertained 34 cases of esophageal atresia (EA), 204 cases of tracheoesophageal fistula (TEF) with an EA (TEF/EA), and 54 cases of TEF without EA. The total prevalence rate was 2.82 per 10,000 live births and stillbirths and showed no secular trend nor marked seasonal variation. Rates of multiple birth were high for each defect (TEF 3.7%, TEF/EA 4.9%, EA 8.8%; population 1.1%). Non-Hispanic whites were overrepresented for TEF and TEF/EA, but not for EA. Excluding trisomies, mean maternal age was above the population mean (26.8 years) for TEF (27.9 years) and TEF/EA (28.0 years), but not for EA (26.2 years). The proportion of trisomies was significantly higher for EA (23.5%) than for TEF (9.3%; P < 0.02) or for TEF/EA (7.4%; P < 0.003). We subdivided each defect into five mutually exclusive types: isolated, multiple, syndromic, chromosomal, and trisomic. Male-to-female (M/F) ratios varied considerably between types, both within and between defects. The highest M/F ratios within each defect were for the multiple type (TEF 2.29, TEF/EA 1.44, EA 1.33; population 1.05), and the lowest for trisomies (TEF 0.25; TEF/EA 0.25, and EA 0.60). All types except trisomies were significantly associated with a single umbilical artery. We found an association of EA and TEF/EA with dextrocardia (3.1% of cases), and confirmed the association of primary hydrocephalus with TEF and TEF/EA (2.7% of cases). The proportion of cases with additional midline defects or VATER or VACTERL type anomalies was similar for all three defects, suggesting a common developmental pathogenesis. Epidemiologic differences between defects, and between types within defects, may reflect differences in timing of the pathological process or differences in susceptibilities (e.g., by sex or aneuploidy) and emphasize the need to evaluate each defect and its types separately in epidemiologic studies.