Esophageal Atresia with Tracheoesophageal Fistula Is Associated with Consanguinity

Abstract

Objectives and StudyEsophageal 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 medication use and alcohol consumption during pregnancy, are suggested. Genetic factors have also been described, especially among syndromic types, such as Down syndrome, but less among non-syndromic types. The aim of the study is to examine the association between non-syndromic EA-TEF and consanguinity. MethodsA 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. ResultsDuring the years 2000-2022, 579,130 children were born in southern Israel, 386,915 (66.8%) were Jewish, and 192,215 were Bedouin Muslims. A total of 96 patients were diagnosed with EA-TEF, 83 of them were non-syndromic. The incidence of EA-TEF was 1.66 cases per 10,000 live births and was statistically higher among the Bedouin population (3 vs. 0.95 cases per 10,000 live births, P<0.001). The consanguinity rate among the Bedouin group was higher compared with the Jewish (67.8% vs 0% P<0.001). There were no differences in other risk factors. ConclusionThe incidence of EA-TEF is exceptionally higher among the Bedouin population that lives in the same geographic region and has the same medical access as the Jewish population, proposing consanguinity as an important/essential risk factor for EA-TEF.