Cloacal exstrophy: An epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research§

Authors

  • Marcia L. Feldkamp,

    Corresponding author
    1. Division of Medical Genetics, Department of Pediatrics, University of Utah Health School of Medicine, Salt Lake City, Utah
    2. Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah
    • Associate Professor of Pediatrics, Division of Medical Genetics, 2C 412 SOM, 50 North Mario Capecchi Drive, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84132.
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  • Lorenzo D. Botto,

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

    1. Birth Defects Epidemiology and Surveillance Branch, Texas Department of State Health Services, Texas
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  • Eduardo E. Castilla,

    1. 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
    2. INAGEMP (Instituto Nacional de Genética Médica Populacional), Brazil
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  • Maurizio Clementi,

    1. Department of Pediatrics, University of Padua, Clinical Genetics Unit, Padua, Italy
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  • Melinda Csaky-Szunyogh,

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

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

    1. Rabin Medical Center, Petah Tiqva and Tel-Aviv University, Israel
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  • Margery Morgan,

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

    1. Departamento de Genética, RYVEMCE, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México City, México
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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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  • Csaba Siffel,

    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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  • John C. Carey

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

  • Presented at the 37th meeting of the International Clearinghouse Meeting November 1, 2010, Buenos Aires, Argentina and the 51st Teratology Society Meeting, San Diego, California, June 28, 2011.

  • §

    How to Cite this Article: Feldkamp ML, Botto LD, Amar E, Bakker MK, Bermejo-Sánchez E, Bianca S, Canfield MA, Castilla EE, Clementi M, Csaky-Szunyogh M, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Merlob P, Morgan M, Mutchinick OM, Rissmann A, Ritvanen A, Siffel C, Carey JC. 2011. Cloacal exstrophy: An epidemiologic study from the International Clearinghouse of Birth Defects Surveillance and Research. Am J Med Genet Part C Semin Med Genet 157: 333–343.

Abstract

Cloacal exstrophy presents as a complex abdominal wall defect thought to result from a mesodermal abnormality. Anatomically, its main components are Omphalocele, bladder Exstrophy and Imperforate anus. Other associated malformations include renal malformations and Spine defects (OEIS complex). Historically, the prevalence ranges from 1 in 200,000 to 400,000 births, with higher rates in females. Cloacal exstrophy is likely etiologically heterogeneous as suggested by its recurrence in families and occurrence in monozygotic twins. The defect has been described in infants with limb-body wall, with trisomy 18, and in one pregnancy exposed to Dilantin and diazepam. Due to its rarity, the use of a nonspecific diagnostic code for case identification, and lack of validation of the clinical findings, cloacal exstrophy remains an epidemiologic challenge. The purpose of this study was to describe the prevalence, associated anomalies and maternal characteristics among infants born with cloacal exstrophy. We used data from the International Clearinghouse for Birth Defects Surveillance and Research submitted from 18 birth defect surveillance programs representing 24 countries. Cases were clinically evaluated locally and reviewed centrally by two authors. Cases of persistent cloaca were excluded. A total of 186 cases of cloacal exstrophy were identified. Overall prevalence was 1 in 131,579 births: ranging from 1 in 44,444 births in Wales to 1 in 269,464 births in South America. Live birth prevalence was 1 in 184,195 births. Prevalence ratios did not vary by maternal age. Forty-two (22.6%) cases met the criteria for the OEIS complex, whereas 60 (32.3%) were classified as OEI and 18 (9.7%) as EIS (one with suspected VATER (0.5%)). Other findings included two cases with trisomy 13 (one without a karyotype confirmation), one with mosaic trisomy 12 (0.5%), one with mosaic 45,X (0.5%) and one classified as having amnion band sequence (0.5%). Twenty-seven (14.5%) infants had other anomalies unrelated to cloacal exstrophy. Cloacal exstrophy is a rare anomaly with variability in prevalence by geographic location. The proportion of cases classified as OEIS complex was lower in this study than previously reported. Among all cases, 54.8% were reported to have an omphalocele. © 2011 Wiley Periodicals, Inc.

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