TY - JOUR
T1 - Bladder exstrophy
T2 - An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature
AU - Siffel, Csaba
AU - Correa, Adolfo
AU - Amar, Emmanuelle
AU - Bakker, Marian K.
AU - Bermejo-Sánchez, Eva
AU - Bianca, Sebastiano
AU - Castilla, Eduardo E.
AU - Clementi, Maurizio
AU - Cocchi, Guido
AU - Csáky-Szunyogh, Melinda
AU - Feldkamp, Marcia L.
AU - Landau, Danielle
AU - Leoncini, Emanuele
AU - Li, Zhu
AU - Lowry, R. Brian
AU - Marengo, Lisa K.
AU - Mastroiacovo, Pierpaolo
AU - Morgan, Margery
AU - Mutchinick, Osvaldo M.
AU - Pierini, Anna
AU - Rissmann, Anke
AU - Ritvanen, Annukka
AU - Scarano, Gioacchino
AU - Szabova, Elena
AU - Olney, Richard S.
PY - 2011/11/15
Y1 - 2011/11/15
N2 - Bladder exstrophy (BE) is a complex congenital anomaly characterized by a defect in the closure of the lower abdominal wall and bladder. We aimed to provide an overview of the literature and conduct an epidemiologic study to describe the prevalence, and maternal and case characteristics of BE. We used data from 22 participating member programs of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). All cases were reviewed and classified as isolated, syndrome, and multiple congenital anomalies. We estimated the total prevalence of BE and calculated the frequency and odds ratios for various maternal and case characteristics. A total of 546 cases with BE were identified among 26,355,094 births. The total prevalence of BE was 2.07 per 100,000 births (95% CI: 1.90-2.25) and varied between 0.52 and 4.63 among surveillance programs participating in the study. BE was nearly twice as common among male as among female cases. The proportion of isolated cases was 71%. Prevalence appeared to increase with increasing categories of maternal age, particularly among isolated cases. The total prevalence of BE showed some variations by geographical region, which is most likely attributable to differences in registration of cases. The higher total prevalence among male cases and older mothers, especially among isolated cases, warrants further attention.
AB - Bladder exstrophy (BE) is a complex congenital anomaly characterized by a defect in the closure of the lower abdominal wall and bladder. We aimed to provide an overview of the literature and conduct an epidemiologic study to describe the prevalence, and maternal and case characteristics of BE. We used data from 22 participating member programs of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). All cases were reviewed and classified as isolated, syndrome, and multiple congenital anomalies. We estimated the total prevalence of BE and calculated the frequency and odds ratios for various maternal and case characteristics. A total of 546 cases with BE were identified among 26,355,094 births. The total prevalence of BE was 2.07 per 100,000 births (95% CI: 1.90-2.25) and varied between 0.52 and 4.63 among surveillance programs participating in the study. BE was nearly twice as common among male as among female cases. The proportion of isolated cases was 71%. Prevalence appeared to increase with increasing categories of maternal age, particularly among isolated cases. The total prevalence of BE showed some variations by geographical region, which is most likely attributable to differences in registration of cases. The higher total prevalence among male cases and older mothers, especially among isolated cases, warrants further attention.
KW - Bladder exstrophy
KW - Maternal age
KW - Prevalence
KW - Sex ratio
UR - http://www.scopus.com/inward/record.url?scp=80054861885&partnerID=8YFLogxK
U2 - 10.1002/ajmg.c.30316
DO - 10.1002/ajmg.c.30316
M3 - Article
C2 - 22002949
AN - SCOPUS:80054861885
SN - 1552-4868
VL - 157
SP - 321
EP - 332
JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
IS - 4
ER -