A Multicountry Analysis of Prevalence and Mortality among Neonates and Children with Bladder Exstrophy

• Authors: Vijaya Kancherla, Emory University; Lucita Tandaki, Otto-von-Guericke University; Manasvi Sundar, Emory University; Anke Lux, Otto-von-Guericke University; Marian K. bakker, University Medical Center Groningen; Jorieke E.H. Bergman, University Medical Center Groningen; Eva Bermejo-Sánchez, Instituto de Salud Carlos III; Mark A. Canfield, Texas Department of State Health Services; Marcia L. Feldkamp, University of Utah, Salt Lake City; Brois Groisman, National Ministry of Health, Buenos Aires; Paula Hurtado-Villa, Pontifica Universidad Javeriana Cali; Karin Källén, National Board of Health and Welfare, Stockholm; Danielle Landau, Soroka Medical Center; Nathalie Lelong, Université de Paris; Jorge Lopez-Camelo, Center for Medical Education and Clinical Research; Pierpaolo Mastroiacovo, International Clearinghouse for Birth Defects Surveillance and Research; Margery Morgan, Singleton Hospital; Osvaldo M. Mutchinick, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán; Amy E. Nance, Utah Birth Defects Network; Wendy N. Nembhard, University of Arkansas, Little Rock; Anna Pierini, National Research Council and Fondazione Toscana Gabriele Monasterio; Antonin Šípek, Thomayer Hospital; Erin B. Stallings, US Centers for Disease Control and Prevention; Elena Szabova, Slovak Medical University; Wladimir Wertelecki, OMNI-Net Ukraine; Ignacio Zarante, Pontifica Universidad Javeriana; Anke Rissmann, Otto-von-Guericke University
• Journal Title: American Journal of Perinatology
• Volume: Volume 41, Number 9
• Publisher: Georg Thieme Verlag KG | 2022-05-29, Pages 1143-1154
• Type of Work: Article | Post-print: After Peer Review
• Publisher DOI: http://doi.org/10.1055/s-0042-1748318
• Subjects: Health Sciences, Epidemiology
• Keywords: birth defects; bladder exstrophy; epidemiology; mortality; prevalence; surveillance; pediatrics

Abstract

Objective Bladder exstrophy (BE) is a rare but severe birth defect affecting the lower abdominal wall and genitourinary system. The objective of the study is to examine the total prevalence, trends in prevalence, and age-specific mortality among individuals with BE. Study Design We conducted a retrospective cohort study. Data were analyzed from 20 birth defects surveillance programs, members of the International Clearinghouse for Birth Defects Surveillance and Research in 16 countries. Live births, stillbirths, and elective terminations of pregnancy for fetal anomaly (ETOPFA) diagnosed with BE from 1974 to 2014. Pooled and program-specific prevalence of BE per 100,000 total births was calculated. The 95% confidence intervals (CI) for prevalence were estimated using Poisson approximation of binomial distribution. Time trends in prevalence of BE from 2000 to 2014 were examined using Poisson regression. Proportion of deaths among BE cases was calculated on the day of birth, day 2 to 6, day 7 to 27, day 28 to 364,1 to 4 years, and ≥5 years. Mortality analysis was stratified by isolated, multiple, and syndromic case status. Results The pooled total prevalence of BE was 2.58 per 100,000 total births (95% CI = 2.40, 2.78) for study years 1974 to 2014. Prevalence varied over time with a decreasing trend from 2000 to 2014. The first-week mortality proportion was 3.5, 17.3, and 14.6% among isolated, multiple, and syndromic BE cases, respectively. The majority of first-week mortality occurred on the first day of life among isolated, multiple, and syndromic BE cases. The proportion of first-week deaths was higher among cases reported from programs in Latin America where ETOPFA services were not available. Conclusions Prevalence of BE varied by program and showed a decreasing trend from 2000 to −2014. Mortality is a concern among multiple and syndromic cases, and a high proportion of deaths among cases occurred during the first week of life.