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.

6533b854fe1ef96bd12aec64

RESEARCH PRODUCT

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.

Vera Choinitzki Ekkehart Jenetzky Ekkehart Jenetzky Ralf Kurz Andreas Heydweiller Haitham Bachour Thomas M. Boemers Ulrike Brokmeier Markus M. Nöthen Salmai Turial Enrika Bartels Andreas Leutner Peter Bartmann Johannes Schumacher Nadine Zwink Heiko Reutter Heiko Reutter Friederike Baudisch Markus Pauly Alice Hölscher

subject

Adult Heart Defects Congenital Male Risk Embryology medicine.medical_specialty Adolescent Fistula Inheritance Patterns Limb Deformities Congenital Anal Canal Kidney Gastroenterology Recurrence risk Anus Imperforate Esophagus Internal medicine medicine Humans Esophageal Fistula First-degree relatives Child Esophageal Atresia business.industry Siblings VATER/VACTERL ASSOCIATION General Medicine medicine.disease VACTERL association Spine Pedigree Trachea Radius Atresia Case-Control Studies embryonic structures Pediatrics Perinatology and Child Health Cohort Female business Developmental Biology Tracheoesophageal Fistula

description

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. Birth Defects Research (Part A), 97:786–791, 2013. © 2013 Wiley Periodicals, Inc.

year	journal	country	edition	language
2013-09-16	Birth defects research. Part A, Clinical and molecular teratology

10.1002/bdra.23205 https://pubmed.ncbi.nlm.nih.gov/24307608