In:
Birth Defects Research Part A: Clinical and Molecular Teratology, Wiley, Vol. 97, No. 12 ( 2013-12), p. 786-791
Abstract:
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. Birth Defects Research (Part A), 97:786–791, 2013 . © 2013 Wiley Periodicals, Inc.
Type of Medium:
Online Resource
ISSN:
1542-0752
,
1542-0760
Language:
English
Publisher:
Wiley
Publication Date:
2013
detail.hit.zdb_id:
2108606-0