Universität zu Köln

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 ORCID: 0000-0001-9217-6457, Jenetzky, Ekkehart ORCID: 0000-0001-5415-8784 and Reutter, Heiko (2013). 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. Birth Defects Res. Part A-Clin. Mol. Teratol., 97 (12). S. 786 - 792. HOBOKEN: WILEY. ISSN 1542-0760

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Abstract

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. 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. 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. 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. (c) 2013 Wiley Periodicals, Inc.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Choinitzki, Vera UNSPECIFIED UNSPECIFIED UNSPECIFIED Zwink, Nadine UNSPECIFIED UNSPECIFIED UNSPECIFIED Bartels, Enrika UNSPECIFIED UNSPECIFIED UNSPECIFIED Baudisch, Friederike UNSPECIFIED UNSPECIFIED UNSPECIFIED Boemers, Thomas M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Hoelscher, Alice UNSPECIFIED UNSPECIFIED UNSPECIFIED Turial, Salmai UNSPECIFIED UNSPECIFIED UNSPECIFIED Bachour, Haitham UNSPECIFIED UNSPECIFIED UNSPECIFIED Heydweiller, Andreas UNSPECIFIED UNSPECIFIED UNSPECIFIED Kurz, Ralf UNSPECIFIED UNSPECIFIED UNSPECIFIED Bartmann, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Pauly, Markus UNSPECIFIED UNSPECIFIED UNSPECIFIED Brokmeier, Ulrike UNSPECIFIED UNSPECIFIED UNSPECIFIED Leutner, Andreas UNSPECIFIED UNSPECIFIED UNSPECIFIED Noehen, Markus M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schumacher, Johannes UNSPECIFIED orcid.org/0000-0001-9217-6457 UNSPECIFIED Jenetzky, Ekkehart UNSPECIFIED orcid.org/0000-0001-5415-8784 UNSPECIFIED Reutter, Heiko UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-470681
DOI:	10.1002/bdra.23205
Journal or Publication Title:	Birth Defects Res. Part A-Clin. Mol. Teratol.
Volume:	97
Number:	12
Page Range:	S. 786 - 792
Date:	2013
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1542-0760
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language TRACHEOESOPHAGEAL FISTULA; VATER ASSOCIATION; SONIC HEDGEHOG; EPIDEMIOLOGY; DEFECTS; TWINS Multiple languages Developmental Biology; Toxicology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/47068