Abstract

Objective: To examine the association between nonsyndromic esophageal atresia with tracheoesophageal fistula (EA-TEF) and consanguinity.

Study design: 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.

Results: 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.

Conclusions: 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.

למאמר המלא

Nassar R, Hougui O, Zerem M, Omary M, Assi Z, Ling G, Yerushalmi B. Esophageal Atresia with Tracheoesophageal Fistula Is Associated with Consanguinity. J Pediatr. 2024 Dec;275:114242. doi: 10.1016/j.jpeds.2024.114242. Epub 2024 Aug 14. PMID: 39151598.