How to Cite this Article: Siffel C, Correa A, Amar E, Bakker MK, Bermejo-Sánchez E, Bianca S, Castilla EE, Clementi M, Cocchi G, Csáky-Szunyogh M, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry RB, Marengo LK, Mastroiacovo P, Morgan M, Mutchinick OM, Pierini A, Rissmann A, Ritvanen A, Scarano G, Szabova E, Olney RS. 2011. Bladder exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature. Am J Med Genet Part C Semin Med Genet 157: 321–332.
Article first published online: 14 OCT 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Very Rare Defects: What Can We Learn?
Volume 157, Issue 4, pages 321–332, 15 November 2011
How to Cite
Siffel, C., Correa, A., Amar, E., Bakker, M. K., Bermejo-Sánchez, E., Bianca, S., Castilla, E. E., Clementi, M., Cocchi, G., Csáky-Szunyogh, M., Feldkamp, M. L., Landau, D., Leoncini, E., Li, Z., Lowry, R. B., Marengo, L. K., Mastroiacovo, P., Morgan, M., Mutchinick, O. M., Pierini, A., Rissmann, A., Ritvanen, A., Scarano, G., Szabova, E. and Olney, R. S. (2011), Bladder exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature. Am. J. Med. Genet., 157: 321–332. doi: 10.1002/ajmg.c.30316
Disclaimer: The findings and conclusions in this report are those of the authors and do not necessarily represent the official position of the Centers for Disease Control and Prevention.
- Issue published online: 20 OCT 2011
- Article first published online: 14 OCT 2011
- bladder exstrophy;
- sex ratio;
- maternal age
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. © 2011 Wiley Periodicals, Inc.