Phenotype severity in the bladder exstrophy-epispadias complex: Analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe

Heiko Reutter, Simeon A. Boyadjiev, Lisa Gambhir, Anne Karoline Ebert, Wolfgang H. Rösch, Raimund Stein, Annette Schröder, Thomas M. Boemers, Enrika Bartels, Hannes Vogt, Boris Utsch, Martin Müller, Birte Detlefsen, Nadine Zwink, Sebastian Rogenhofer, Rita Gobet, Goedele M.A. Beckers, Arend Bökenkamp, Abdol Mohammad Kajbafzadeh, Enrique JaureguizarMarkus Draaken, Yegappan Lakshmanan, John P. Gearhart, Michael Ludwig, Markus M. Nöthen, Ekkehart Jenetzky

Research output: Contribution to journalArticlepeer-review

Abstract

Objective: To identify genetic and nongenetic risk factors that contribute to the severity of the bladder exstrophy-epispadias complex (BEEC). Study design: Patients with BEEC from North America (n = 167) and Europe (n = 274) were included. The following data were collected: associated anomalies, parental age at conception, mode of conception, periconceptional folic acid supplementation, maternal risk factors during pregnancy, and environmental risk factors. The patients were divided into 3 subgroups according to phenotype severity: (i) mild, epispadias (n = 43); (ii) intermediate, classic bladder exstrophy (n = 366); and (iii) severe, cloacal exstrophy (n = 31). These subgroups then were compared with identify factors that contribute to phenotype severity. Results: Males were overrepresented in all subgroups. A relatively high prevalence of cleft lip, with or without cleft palate, was observed. Maternal smoking and medical radiation during the first trimester were associated with the severe cloacal exstrophy phenotype. Compliance with periconceptional folic acid supplementation was associated with the mildest phenotype (epispadias). Conclusions: Periconceptional folic acid supplementation appears to prevent the development of the severe phenotype of BEEC.

Original languageEnglish (US)
Pages (from-to)825-831.e1
JournalJournal of Pediatrics
Volume159
Issue number5
DOIs
StatePublished - Nov 2011

Keywords

  • BEEC
  • Bladder exstrophy-epispadias complex
  • CBE
  • CE
  • CL-P
  • Classic bladder exstrophy
  • Cleft lip with or without cleft palate
  • Cloacal exstrophy
  • E
  • ES cohort
  • EUROCAT
  • Epispadias
  • European Study Cohort
  • European Surveillance of Congenital Malformations network
  • ICSI
  • IVF
  • In vitro fertilization
  • Intracytoplasmic sperm injection
  • NAS cohort
  • North American Study Cohort
  • OEIS
  • Omphalocele, exstrophy, imperforate anus, and spinal defects complex
  • VSD
  • Ventricular septal defect

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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