Esophageal Atresia with Tracheoesophageal Fistula Is Associated with Consanguinity.

Abstract

To examine the association between nonsyndromic esophageal atresia with tracheoesophageal fistula (EA-TEF) and consanguinity. A retrospective study comparing the incidence of EA-TEF between a low-consanguineous Jewish population and a high-consanguineous Bedouin population. All patients were treated at Soroka University Medical Center, the only tertiary medical center in southern Israel. From 2000 to 2022, 579 130 children were born in southern Israel, and 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 nonsyndromic. 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 < .001). The consanguinity rate among the Bedouin group was higher compared with the Jewish (67.8% vs 0%; P < .001). There were no differences in other risk factors. The incidence of EA-TEF is 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 a risk factor for EA-TEF.