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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...
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Titel: |
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 |
In: | Birth Defects Research Part A: Clinical and Molecular Teratology, 97, 2013, 12, S. 786-791 |
veröffentlicht: |
Wiley
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Umfang: | 786-791 |
ISSN: |
1542-0752 1542-0760 |
DOI: | 10.1002/bdra.23205 |
Zusammenfassung: | <jats:sec><jats:title>BACKGROUND</jats:title><jats: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.</jats:p></jats:sec><jats:sec><jats:title>METHODS</jats:title><jats: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.</jats:p></jats:sec><jats:sec><jats:title>RESULTS</jats:title><jats: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 (<jats:italic>p</jats:italic> = 0.87). In three families, one more distantly related relative presented with EA/TEF.</jats:p></jats:sec><jats:sec><jats:title>CONCLUSION</jats:title><jats: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. <jats:italic>Birth Defects Research (Part A), 97:786–791, 2013</jats:italic>. © 2013 Wiley Periodicals, Inc.</jats:p></jats:sec> |
Format: | E-Article |
Quelle: | Wiley (CrossRef) |
Sprache: | Englisch |