Prevalence of esophageal atresia among 18 international birth defects surveillance programs§

Authors

  • Natasha Nassar,

    1. Population Perinatal Health Research, Kolling Institute of Medical Research, University of Sydney, Australia
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  • Emanuele Leoncini,

    1. Center of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy
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  • Emmanuelle Amar,

    1. Rhone-Alps Registry of Birth Defects REMERA, Lyon, France
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  • Jazmín Arteaga-Vázquez,

    1. Instituto Nacional de Ciencias Médicas y Nutrición “Salvador Zubirán”, Departamento de Genética, Registro y Vigilancia Epidemiológica de Malformaciones Congénitas, Mexico City, Mexico
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  • Marian K. Bakker,

    1. EUROCAT Northern Netherlands, Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
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  • Carol Bower,

    1. Western Australian Register of Developmental Anomalies, Perth, Australia
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  • Mark A. Canfield,

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

    1. Instituto Nacional de Genética Médica Populacional, Rio de Janeiro, Brazil
    2. Estudio Colaborativo Latino Americano de Malformaciones Congenitas at Centro de Educación Médica e Investigación Clínica, Buenos Aires, Argentina
    3. Estudio Colaborativo Latino Americano de Malformaciones Congenitas at Laboratório de Epidemiologia de Malformações Congênitas, Instituto Oswaldo Cruz, Fundação Oswaldo Cruz, Rio de Janeiro, Brazil
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  • Guido Cocchi,

    1. Indagine Malformazioni congenite Emilia Romagna Registry, Department of Pediatrics, Bologna University, Bologna, Italy
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  • Adolfo Correa,

    1. Metropolitan Atlanta Congenital Defects Program, Division of Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia
    2. Department of Medicine, University of Mississippi Medical Center, Jackson, Mississippi
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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, University of Utah Health Sciences Center, Salt Lake City, Utah
    2. Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah
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  • Babak Khoshnood,

    1. Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche S953, Epidemiological Research on Perinatal Health and Women's and Children's Health, Hôpital Cochin and UPMC University, Paris, France
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  • Danielle Landau,

    1. Department of Neonatology, Soroka University Medical Center, Beer-Sheba, Israel
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  • Nathalie Lelong,

    1. Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche S953, Epidemiological Research on Perinatal Health and Women's and Children's Health, Hôpital Cochin and UPMC University, Paris, France
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  • Jorge S. López-Camelo,

    1. Instituto Nacional de Genética Médica Populacional, Rio de Janeiro, Brazil
    2. Estudio Colaborativo Latino Americano de Malformaciones Congenitas at Centro de Educación Médica e Investigación Clínica, Buenos Aires, Argentina
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  • R. Brian Lowry,

    1. Alberta Congenital Anomalies Surveillance System, Alberta Health and Wellness, Calgary, Canada
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  • Robert McDonnell,

    1. Dublin EUROCAT Registry, Health Service Executive, Dublin, Ireland
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  • Paul Merlob,

    1. Department of Neonatology, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel
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  • Julia Métneki,

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

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

    1. Instituto Nacional de Ciencias Médicas y Nutrición “Salvador Zubirán”, Departamento de Genética, Registro y Vigilancia Epidemiológica de Malformaciones Congénitas, Mexico City, Mexico
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  • Miland N. Palmer,

    1. Utah Birth Defect Network, Utah Department of Health, Salt Lake City, Utah
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  • Anke Rissmann,

    1. Malformation Monitoring Centre Saxony-Anhalt, Otto-von-Guericke University Magdeburg, Germany
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  • Csaba Siffel,

    1. Metropolitan Atlanta Congenital Defects Program, Division of Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia
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  • Antonin Sìpek,

    1. National Registry of Congenital Anomalies of the Czech Republic, Department of Medical Genetics, Thomayer University Hospital, Prague, Czech Republic
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  • Elena Szabova,

    1. Slovak Teratologic Information Centre, Slovak Medical University, Bratislava, Slovak Republic
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  • David Tucker,

    1. Congenital Anomaly Register for Wales, Singleton Hospital, Swansea, Wales, United Kingdom
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  • Pierpaolo Mastroiacovo

    Corresponding author
    1. Center of the International Clearinghouse for Birth Defects Surveillance and Research, Rome, Italy
    • Centre of the International Clearinghouse for Birth Defects Surveillance and Research, Via Carlo Mirabello 14, 00195 Rome, Italy
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  • Supported by the Centers for Disease Control and Prevention (CDC), National Center on Birth Defects and Developmental Disabilities (Project Collaborative International Birth Defects Surveillance and Program, grant no. 1U50DD000524-01). Natasha Nassar is supported by an Australian National Health and Medical Research Council Career Development Fellowship (no. 632955).

  • 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.

  • §

    Pierpaolo Mastroiacovo developed the concept and design of the study. Emanuele Leoncini conducted the analysis and drafted the methods. Natasha Nassar was responsible for the drafting of the manuscript. All authors provided data for the study and contributed to the interpretation of data and had final approval of the manuscript to be published.

  • The authors have no conflict of interest to declare.

Abstract

BACKGROUND: The prevalence of esophageal atresia (EA) has been shown to vary across different geographical settings. Investigation of geographical differences may provide an insight into the underlying etiology of EA. METHODS: The study population comprised infants diagnosed with EA during 1998 to 2007 from 18 of the 46 birth defects surveillance programs, members of the International Clearinghouse for Birth Defects Surveillance and Research. Total prevalence per 10,000 births for EA was defined as the total number of cases in live births, stillbirths, and elective termination of pregnancy for fetal anomaly (ETOPFA) divided by the total number of all births in the population. RESULTS: Among the participating programs, a total of 2943 cases of EA were diagnosed with an average prevalence of 2.44 (95% confidence interval [CI], 2.35–2.53) per 10,000 births, ranging between 1.77 and 3.68 per 10,000 births. Of all infants diagnosed with EA, 2761 (93.8%) were live births, 82 (2.8%) stillbirths, 89 (3.0%) ETOPFA, and 11 (0.4%) had unknown outcomes. The majority of cases (2020, 68.6%), had a reported EA with fistula, 749 (25.5%) were without fistula, and 174 (5.9%) were registered with an unspecified code. CONCLUSIONS: On average, EA affected 1 in 4099 births (95% CI, 1 in 3954–4251 births) with prevalence varying across different geographical settings, but relatively consistent over time and comparable between surveillance programs. Findings suggest that differences in the prevalence observed among programs are likely to be attributable to variability in population ethnic compositions or issues in reporting or registration procedures of EA, rather than a real risk occurrence difference. Birth Defects Research (Part A), 2012. © 2012 Wiley Periodicals, Inc.

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