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. Issue 12 (5th December 2013)

• Record Type: Journal Article
• Authors: Choinitzki, Vera; Zwink, Nadine; Bartels, Enrika; Baudisch, Friederike; Boemers, Thomas M.; Hölscher, Alice; Turial, Salmai; Bachour, Haitham; Heydweiller, Andreas; Kurz, Ralf; Bartmann, Peter; Pauly, Markus; Brokmeier, Ulrike; Leutner, Andreas; Nöthen, Markus M.; Schumacher, Johannes; Jenetzky, Ekkehart; Reutter, Heiko
• Is Part Of: Birth defects research. Volume 97:Issue 12(2013:Dec.)
• Page Start: 786
• Page End: 791
• Publication Date: 2013-12-05
• Subjects: Teratology -- Periodicals; Abnormalities, Human -- Research -- Periodicals; Abnormalities, Human -- Periodicals; 616.043
• DOI: 10.1002/bdra.23205
• Languages: English
• ISSNs: 1542-0752

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="bdra23205-sec-0001" sec-type="section"> <title>BACKGROUND</title> <p>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.</p> </sec> <sec id="bdra23205-sec-0002" sec-type="section"> <title>METHODS</title> <p>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.</p> </sec> <sec id="bdra23205-sec-0003" sec-type="section"> <title>RESULTS</title> <p>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 (<italic>p</italic> = 0.87). In three families, one more distantly related relative presented with EA/TEF.</p> </sec> <sec id="bdra23205-sec-0004" sec-type="section"> <title>CONCLUSION</title> <p>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. <italic>Birth Defects Research (Part A), 97:786–791, 2013</italic>. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>