Bladder exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature

Csaba Siffel, Adolfo Correa, Emmanuelle Amar, Marian K. Bakker, Eva Bermejo-Sánchez, Sebastiano Bianca, Eduardo E. Castilla, Maurizio Clementi, Guido Cocchi, Melinda Csáky-Szunyogh, Marcia L. Feldkamp, Danielle Landau, Emanuele Leoncini, Zhu Li, R. Brian Lowry, Lisa K. Marengo, Pierpaolo Mastroiacovo, Margery Morgan, Osvaldo M. Mutchinick, Anna PieriniAnke Rissmann, Annukka Ritvanen, Gioacchino Scarano, Elena Szabova, Richard S. Olney

Research output: Contribution to journalArticlepeer-review

72 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)321-332
Number of pages12
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Volume157
Issue number4
DOIs
StatePublished - 15 Nov 2011
Externally publishedYes

Keywords

  • Bladder exstrophy
  • Maternal age
  • Prevalence
  • Sex ratio

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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