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.

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.

• Authors: Vera Choinitzki, Nadine Zwink, Enrika Bartels, Friederike Baudisch, Thomas M Boemers, Alice Hölscher, Salmai Turial, Haitham Bachour, Andreas Heydweiller, Ralf Kurz, Peter Bartmann, Markus Pauly, Ulrike Brokmeier, Andreas Leutner, Markus M Nöthen, Johannes Schumacher, Ekkehart Jenetzky, Heiko Reutter
• Journal: Birth defects research. Part A, Clinical and molecular teratology (Birth Defects Res A Clin Mol Teratol) Vol. 97 Issue 12 Pg. 786-91 (Dec 2013) ISSN: 1542-0760 [Electronic] United States
• PMID: 24307608 (Publication Type: Journal Article)
• Copyright: Copyright © 2013 Wiley Periodicals, Inc.

Topics

• Adolescent
• Adult
• Anal Canal (abnormalities, pathology)
• Anus, Imperforate (genetics, pathology)
• Case-Control Studies
• Child
• Esophageal Atresia (complications, genetics, pathology)
• Esophagus (abnormalities, pathology)
• Female
• Heart Defects, Congenital (genetics, pathology)
• Humans
• Inheritance Patterns
• Kidney (abnormalities, pathology)
• Limb Deformities, Congenital (genetics, pathology)
• Male
• Pedigree
• Radius (abnormalities, pathology)
• Risk
• Siblings
• Spine (abnormalities, pathology)
• Trachea (abnormalities, pathology)
• Tracheoesophageal Fistula (complications, genetics, pathology)