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J Pediatr ; 159(5): 825-831.e1, 2011 Nov.
Article in English | MEDLINE | ID: mdl-21679965

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.


Subject(s)
Bladder Exstrophy/epidemiology , Epispadias/epidemiology , Adult , Antacids/therapeutic use , Cleft Lip/epidemiology , Cleft Palate/epidemiology , Europe/epidemiology , Female , Fertilization in Vitro/statistics & numerical data , Folic Acid/therapeutic use , Humans , Male , Maternal Age , Middle Aged , North America/epidemiology , Paternal Age , Phenotype , Pregnancy , Pregnancy Trimester, First , Prenatal Care , Radiography/statistics & numerical data , Risk Factors , Severity of Illness Index , Sex Distribution , Smoking/epidemiology , Sperm Injections, Intracytoplasmic/statistics & numerical data , Surveys and Questionnaires , Vitamin B Complex/therapeutic use
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