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 Jaureguizar & 6 others Markus Draaken, Yegappan Lakshmanan, John Phillip Gearhart, Michael Ludwig, Markus M. Nöthen, Ekkehart Jenetzky

Research output: Contribution to journalArticle

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)
JournalJournal of Pediatrics
Volume159
Issue number5
DOIs
StatePublished - Nov 2011

Fingerprint

North America
Phenotype
Epispadias
Folic Acid
Mothers
Bladder Exstrophy
Cleft Lip
Cleft Palate
First Pregnancy Trimester
Parents
Smoking
Bladder Exstrophy and Epispadias Complex
Radiation
Pregnancy

Keywords

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

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Phenotype severity in the bladder exstrophy-epispadias complex : Analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe. / Reutter, Heiko; Boyadjiev, Simeon A.; Gambhir, Lisa; Ebert, Anne Karoline; Rösch, Wolfgang H.; Stein, Raimund; Schröder, Annette; Boemers, Thomas M.; Bartels, Enrika; Vogt, Hannes; Utsch, Boris; Müller, Martin; Detlefsen, Birte; Zwink, Nadine; Rogenhofer, Sebastian; Gobet, Rita; Beckers, Goedele M A; Bökenkamp, Arend; Kajbafzadeh, Abdol Mohammad; Jaureguizar, Enrique; Draaken, Markus; Lakshmanan, Yegappan; Gearhart, John Phillip; Ludwig, Michael; Nöthen, Markus M.; Jenetzky, Ekkehart.

In: Journal of Pediatrics, Vol. 159, No. 5, 11.2011.

Research output: Contribution to journalArticle

Reutter, H, Boyadjiev, SA, Gambhir, L, Ebert, AK, Rösch, WH, Stein, R, Schröder, A, Boemers, TM, Bartels, E, Vogt, H, Utsch, B, Müller, M, Detlefsen, B, Zwink, N, Rogenhofer, S, Gobet, R, Beckers, GMA, Bökenkamp, A, Kajbafzadeh, AM, Jaureguizar, E, Draaken, M, Lakshmanan, Y, Gearhart, JP, Ludwig, M, Nöthen, MM & Jenetzky, E 2011, 'Phenotype severity in the bladder exstrophy-epispadias complex: Analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe', Journal of Pediatrics, vol. 159, no. 5. https://doi.org/10.1016/j.jpeds.2011.04.042
Reutter, Heiko ; Boyadjiev, Simeon A. ; Gambhir, Lisa ; Ebert, Anne Karoline ; Rösch, Wolfgang H. ; Stein, Raimund ; Schröder, Annette ; Boemers, Thomas M. ; Bartels, Enrika ; Vogt, Hannes ; Utsch, Boris ; Müller, Martin ; Detlefsen, Birte ; Zwink, Nadine ; Rogenhofer, Sebastian ; Gobet, Rita ; Beckers, Goedele M A ; Bökenkamp, Arend ; Kajbafzadeh, Abdol Mohammad ; Jaureguizar, Enrique ; Draaken, Markus ; Lakshmanan, Yegappan ; Gearhart, John Phillip ; Ludwig, Michael ; Nöthen, Markus M. ; Jenetzky, Ekkehart. / Phenotype severity in the bladder exstrophy-epispadias complex : Analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe. In: Journal of Pediatrics. 2011 ; Vol. 159, No. 5.
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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.",
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T2 - Analysis of genetic and nongenetic contributing factors in 441 families from North America and Europe

AU - Reutter, Heiko

AU - Boyadjiev, Simeon A.

AU - Gambhir, Lisa

AU - Ebert, Anne Karoline

AU - Rösch, Wolfgang H.

AU - Stein, Raimund

AU - Schröder, Annette

AU - Boemers, Thomas M.

AU - Bartels, Enrika

AU - Vogt, Hannes

AU - Utsch, Boris

AU - Müller, Martin

AU - Detlefsen, Birte

AU - Zwink, Nadine

AU - Rogenhofer, Sebastian

AU - Gobet, Rita

AU - Beckers, Goedele M A

AU - Bökenkamp, Arend

AU - Kajbafzadeh, Abdol Mohammad

AU - Jaureguizar, Enrique

AU - Draaken, Markus

AU - Lakshmanan, Yegappan

AU - Gearhart, John Phillip

AU - Ludwig, Michael

AU - Nöthen, Markus M.

AU - Jenetzky, Ekkehart

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N2 - 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.

AB - 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.

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KW - European Study Cohort

KW - European Surveillance of Congenital Malformations network

KW - ICSI

KW - In vitro fertilization

KW - Intracytoplasmic sperm injection

KW - IVF

KW - NAS cohort

KW - North American Study Cohort

KW - OEIS

KW - Omphalocele, exstrophy, imperforate anus, and spinal defects complex

KW - Ventricular septal defect

KW - VSD

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