title: 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.
  
  
  CONCLUSIONS
  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.affiliation: Institute of Human Genetics, University of Bonn, Bonn, Germany.
authors.forename: Vera
authors.initials: V
authors.lastname: Choinitzki
authors.forename: Nadine
authors.initials: N
authors.lastname: Zwink
authors.forename: Enrika
authors.initials: E
authors.lastname: Bartels
authors.forename: Friederike
authors.initials: F
authors.lastname: Baudisch
authors.forename: Thomas M
authors.initials: TM
authors.lastname: Boemers
authors.forename: Alice
authors.initials: A
authors.lastname: Hölscher
authors.forename: Salmai
authors.initials: S
authors.lastname: Turial
authors.forename: Haitham
authors.initials: H
authors.lastname: Bachour
authors.forename: Andreas
authors.initials: A
authors.lastname: Heydweiller
authors.forename: Ralf
authors.initials: R
authors.lastname: Kurz
authors.forename: Peter
authors.initials: P
authors.lastname: Bartmann
authors.forename: Markus
authors.initials: M
authors.lastname: Pauly
authors.forename: Ulrike
authors.initials: U
authors.lastname: Brokmeier
authors.forename: Andreas
authors.initials: A
authors.lastname: Leutner
authors.forename: Markus M
authors.initials: MM
authors.lastname: Nöthen
authors.forename: Johannes
authors.initials: J
authors.lastname: Schumacher
authors.forename: Ekkehart
authors.initials: E
authors.lastname: Jenetzky
authors.forename: Heiko
authors.initials: H
authors.lastname: Reutter
mesh_terms: D000293:Adolescent; D000328:Adult; D001003:Anal Canal / Q000002:abnormalities* / Q000473:pathology; D001006:Anus, Imperforate / Q000235:genetics / Q000473:pathology*; D016022:Case-Control Studies; D002648:Child; D004933:Esophageal Atresia / Q000150:complications / Q000235:genetics / Q000473:pathology*; D004947:Esophagus / Q000002:abnormalities* / Q000473:pathology; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics / Q000473:pathology*; D006801:Humans; D040582:Inheritance Patterns; D007668:Kidney / Q000002:abnormalities* / Q000473:pathology; D017880:Limb Deformities, Congenital / Q000235:genetics / Q000473:pathology*; D008297:Male; D010375:Pedigree; D011884:Radius / Q000002:abnormalities* / Q000473:pathology; D012306:Risk; D035781:Siblings; D013131:Spine / Q000002:abnormalities* / Q000473:pathology; D014132:Trachea / Q000002:abnormalities* / Q000473:pathology; D014138:Tracheoesophageal Fistula / Q000150:complications / Q000235:genetics / Q000473:pathology*
keywords: VATER/VACTERL association; isolated esophageal atresia; recurrence risk; trachea-esophageal fistula