TY - JOUR
T1 - Phenotype severity in the bladder exstrophy-epispadias complex
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 P.
AU - Ludwig, Michael
AU - Nöthen, Markus M.
AU - Jenetzky, Ekkehart
N1 - Funding Information:
E.J., H.R., E.B., N.Z., A -K.E., W.R., R.S., A.S., T.B., M.N., and M.L. are members of the “Network for the Systematic Investigation of the Molecular Causes, Clinical Implications, and Psychosocial Outcome of Congenital Uro-Rectal Malformations (CURE-Net),” which is supported by a research grant ( 01GM08107 ) from the German Federal Ministry of Education and Research (Bundesministerium für Bildung und Forschung, BMBF): http://www.cure-net.de . S.B. is partially supported by the Children’s Miracle Network, endowed chair in pediatric genetics. This project has been partially supported through NIH grants ( R01 DE016886 from the NIDCD/NIH ; M01-RR00052 from the NCRR/NIH ) and a CMN grant ( CMNSB06 ). The authors declare no conflicts of interest.
PY - 2011/11
Y1 - 2011/11
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.
KW - BEEC
KW - Bladder exstrophy-epispadias complex
KW - CBE
KW - CE
KW - CL-P
KW - Classic bladder exstrophy
KW - Cleft lip with or without cleft palate
KW - Cloacal exstrophy
KW - E
KW - ES cohort
KW - EUROCAT
KW - Epispadias
KW - European Study Cohort
KW - European Surveillance of Congenital Malformations network
KW - ICSI
KW - IVF
KW - In vitro fertilization
KW - Intracytoplasmic sperm injection
KW - NAS cohort
KW - North American Study Cohort
KW - OEIS
KW - Omphalocele, exstrophy, imperforate anus, and spinal defects complex
KW - VSD
KW - Ventricular septal defect
UR - http://www.scopus.com/inward/record.url?scp=80054755089&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=80054755089&partnerID=8YFLogxK
U2 - 10.1016/j.jpeds.2011.04.042
DO - 10.1016/j.jpeds.2011.04.042
M3 - Article
C2 - 21679965
AN - SCOPUS:80054755089
SN - 0022-3476
VL - 159
SP - 825-831.e1
JO - Journal of Pediatrics
JF - Journal of Pediatrics
IS - 5
ER -