Introduction
Esophageal atresia with tracheoesophageal fistula (EA-TEF) is a rare congenital malformation. The incidence of TEF is 1.3-4.6 cases per 10,000 live births. The specific etiology of EA-TEF is unknown. Environmental risk factors such as maternal use of medications and alcohol consumption during pregnancy are suggested. Genetic factors have also been described, especially among the syndromic types such as VACTERL, CHARGE, and Down syndrome, but less among non-syndromic types.
Aims & Methods
Aim: To examine the association between non-syndromic EA-TEF and consanguinity.
Methods: A retrospective study comparing the incidence of EA-TEF between low-consanguineous Jewish population and high-consanguineous Bedouin population. All patients were treated at Soroka University Medical Center, the only tertiary medical center in southern Israel.
Results
During the years 2000-2022, 579,130 children were born in southern Israel, 386,915 (67%) were Jewish and 192,215 were Bedouin Muslims. A total of 96 patients were diagnosed with EA-TEF, 83 of them were non-syndromic EA-TEF. The incidence of non-syndromic EA-TEF was 1.43 cases per 10,000 live-births and was statistically higher among the Bedouin population (2.65 vs. 0.83 cases per 10,000 live-births, P<0.001). The consanguinity rate among the Bedouin group was higher comparing with the Jewish (71% vs 0% P<0.001). There were no differences in other risk factors.
Conclusion
The incidence of EA-TEF is exceptionally higher among the Bedouin population that live in the same geographic region and the same medical access as the Jewish population, proposing consanguinity as an important/essential risk factor of EA-TEF.
References
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Disclosure
Conflict of Interest: None
