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

作者：Choinitzki Vera; Zwink Nadine; Bartels Enrika; Baudisch Friederike; Boemers Thomas M; Hoelscher Alice; Turial Salmai; Bachour Haitham; Heydweiller Andreas; Kurz Ralf; Bartmann Peter; Pauly Markus; Brokmeier Ulrike; Leutner Andreas; Noehen Markus M; Schumacher Johannes; Jenetzky Ekkehart; Reutter Heiko^*

来源：Birth Defects Research Part A: Clinical and Molecular Teratology , 2013, 97(12): 786-791.

DOI：10.1002/bdra.23205

• isolated esophageal atresia
• trachea-esophageal fistula
• recurrence risk
• VATER
• VACTERL association

BACKGROUNDEsophageal 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. %26lt;br%26gt;METHODSA 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. %26lt;br%26gt;RESULTSNone 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. %26lt;br%26gt;CONCLUSIONIn 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. Birth Defects Research (Part A), 97:786-791, 2013.

• 出版日期2013-12