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

Authors

  • Csaba Siffel,

    Corresponding author
    1. Metropolitan Atlanta Congenital Defects Program, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia
    • Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities, MailStop E-86, 1600 Clifton Road, Atlanta, GA 30333.
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  • Adolfo Correa,

    1. Metropolitan Atlanta Congenital Defects Program, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia
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  • Emmanuelle Amar,

    1. Rhone-Alps Registry of Birth Defects REMERA, Lyon, France
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  • Marian K. Bakker,

    1. Eurocat Northern Netherlands, Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands
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  • Eva Bermejo-Sánchez,

    1. Instituto de Investigación de Enfermedades Raras (IIER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain
    2. ECEMC (Spanish Collaborative Study of Congenital Malformations), Centro de Investigación sobre Anomalías Congénitas (CIAC), Instituto de Salud Carlos III (ISCIII), Madrid, Spain
    3. CIBER de Enfermedades Raras (CIBERER) (Centre for Biomedical Research on Rare Diseases), Madrid, Spain
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  • Sebastiano Bianca,

    1. Dipartimento Materno Infantile, Centro di Consulenza Genetica e di Teratologia della Riproduzione, Laboratorio di Citogenetica, P.O. Garibaldi, Nesima, Catania, Italy
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  • Eduardo E. Castilla,

    1. INAGEMP (Instituto Nacional de Genética Médica Populacional), Brazil
    2. ECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congénitas) at Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil and CEMIC (Centro de Estudios Médicos e Investigaciones Clínicas), Buenos Aires, Argentina
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  • Maurizio Clementi,

    1. Department of Pediatrics, University of Padua, Clinical Genetics Unit, Padua, Italy
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  • Guido Cocchi,

    1. IMER Registry, Department of Pediatrics, Bologna University, Bologna, Italy
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  • Melinda Csáky-Szunyogh,

    1. Department of Hungarian Congenital Abnormality Registry and Surveillance, National Center for Healthcare Audit and Inspection, Budapest, Hungary
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  • Marcia L. Feldkamp,

    1. Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah
    2. Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah
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  • Danielle Landau,

    1. Department of Neonatology, Soroka University Medical Center, Beer-Sheba, Israel
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  • Emanuele Leoncini,

    1. Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy
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  • Zhu Li,

    1. National Center for Maternal and Infant Health, Peking University Health Science Center, Beijing, People's Republic of China
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  • R. Brian Lowry,

    1. Alberta Congenital Anomalies Surveillance System, Alberta Health & Wellness, Calgary, Alberta, Canada
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  • Lisa K. Marengo,

    1. Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Texas
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  • Pierpaolo Mastroiacovo,

    1. Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy
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  • Margery Morgan,

    1. CARIS, the Congenital Anomaly Register for Wales, Singleton Hospital, Swansea, United Kingdom
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  • Osvaldo M. Mutchinick,

    1. Departamento de Genética, RYVEMCE (Registro y Vigilancia Epidemiológica de Malformaciones Congénitas), Instituto Nacional de Ciencias Médicas y Nutrición “Salvador Zubirán”, México City, México
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  • Anna Pierini,

    1. CNR Institute of Clinical Physiology and CNR-Tuscany Region “Gabriele Monasterio” Foundation, Pisa, Italy
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  • Anke Rissmann,

    1. Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke University Magdeburg, Germany
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  • Annukka Ritvanen,

    1. The Finnish Register of Congenital Malformations, National Institute for Health and Welfare, THL, Helsinki, Finland
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  • Gioacchino Scarano,

    1. Birth Defects Campania Registry, Medical Genetics Dept, General Hospital “G. Rummo” Benevento, Italy
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  • Elena Szabova,

    1. Slovak Teratologic Information Centre, Slovak Medical University, Bratislava, Slovak Republic
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  • Richard S. Olney

    1. Metropolitan Atlanta Congenital Defects Program, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia
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  • 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.

  • 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.

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. © 2011 Wiley Periodicals, Inc.

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