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. CONCLUSION: 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. KEY POINTS: · Total prevalence of BE was 2.58 per 100,000 births.. · Prevalence decreased from 2000 to 2014.. · The first-week mortality was 9.3%..

Arkansas Center for Birth Defects Research and Prevention and Arkansas Reproductive Health Monitoring System University of Arkansas for Medical Sciences Fay Boozman College of Public Health Department of Epidemiology Little Rock Arkansas

Birth Defects Epidemiology and Surveillance Branch Texas Department of State Health Services Austin Texas

CARIS the Congenital Anomaly Register for Wales Singleton Hospital Swansea Wales United Kingdom

Department of Basic Sciences of Health School of Health Pontificia Universidad Javeriana Cali Colombia and Clínica Imbanaco Cali Colombia

Department of Epidemiology Emory University Rollins School of Public Health Atlanta Georgia

Department of Genetics University of Groningen University Medical Center Groningen Eurocat Northern The Netherlands Groningen The Netherlands

Department of Medical Genetics Thomayer Hospital Prague Czech Republic

Department of Neonatology Soroka Medical Center Beer Sheva Israel

Division of Birth Defects and Infant Disorders National Center on Birth Defects and Developmental Disabilities US Centers for Disease Control and Prevention Atlanta Georgia

Division of Medical Genetics Department of Pediatrics University of Utah School of Medicine Salt Lake City Utah

ECEMC Instituto de Salud Carlos 3 Madrid Spain

ECLAMC Center for Medical Education and Clinical Research Buenos Aires Argentina

Human Genetics Institute Pontificia Universidad Javeriana Bogotá Colombia and Hospital Universitario San Ignacio Bogotá Colombia

Institute for Biometrics and Medical Informatics Medical Faculty Otto von Guericke University Magdeburg Germany

Institute of Clinical Physiology National Research Council and Fondazione Toscana Gabriele Monasterio Tuscany Registry of Congenital Defects Pisa Italy

International Center on Birth Defects International Clearinghouse for Birth Defects Surveillance and Research Rome Italy

Malformation Monitoring Centre Saxony Anhalt Medical Faculty Otto von Guericke University Magdeburg Germany

National Board of Health and Welfare Stockholm Sweden

National Network of Congenital Anomalies of Argentina National Ministry of Health Buenos Aires Argentina

OMNI Net Ukraine Rivne Ukraine

RYVEMCE Department of Genetics Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán Mexico City Mexico

Slovak Teratologic Information Centre Slovak Medical University Bratislava Slovak Republic

Université de Paris Inserm U1153 Obstetrical Perinatal and Pediatric Epidemiology Research Team Paris France

Utah Department of Health Bureau of Children with Special Health Care Needs Utah Birth Defects Network Salt Lake City Utah

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