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  • Title: Second study on the recurrence risk of isolated esophageal atresia with or without trachea-esophageal fistula among first-degree relatives: no evidence for increased risk of recurrence of EA/TEF or for malformations of the VATER/VACTERL association spectrum.
    Author: Choinitzki V, Zwink N, Bartels E, Baudisch F, Boemers TM, Hölscher A, Turial S, Bachour H, Heydweiller A, Kurz R, Bartmann P, Pauly M, Brokmeier U, Leutner A, Nöthen MM, Schumacher J, Jenetzky E, Reutter H.
    Journal: Birth Defects Res A Clin Mol Teratol; 2013 Dec; 97(12):786-91. PubMed ID: 24307608.
    Abstract:
    BACKGROUND: Esophageal atresia with/without trachea-esophageal fistula (EA/TEF) denotes a spectrum of severe congenital malformations. The aim of this systematic study was to determine both the recurrence risk for EA/TEF, and the risk for malformations of the VATER/VACTERL association spectrum, in first-degree relatives of patients with isolated EA/TEF. METHODS: A total of 108 unrelated patients with isolated EA/TEF were included. These individuals had 410 first-degree relatives including 194 siblings. The presence of EA/TEF and malformations of the VATER/VACTERL association spectrum in relatives was systematically assessed. Data from the EUROCAT network were used for comparison. RESULTS: None of the first-degree relatives displayed any form of EA/TEF. In two families, a first-degree relative presented with malformations from the VATER/VACTERL association spectrum. However, no increase in the risk for malformations of the VATER/VACTERL association spectrum was found compared with the control cohort (p = 0.87). In three families, one more distantly related relative presented with EA/TEF. CONCLUSION: In contrast to previous studies, our results suggest a very low recurrence risk for isolated EA/TEF and/or for malformations of the VATER/VACTERL association spectrum among first-degree relatives.
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