Birth defects surveillance : a manual for programme managers
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Birth defects surveillance : a manual for programme managers

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    Second edition.

    Congenital anomalies, also known as birth defects, are structural or functional abnormalities, including metabolic disorders, which are present at birth. Congenital anomalies are a diverse group of disorders of prenatal origin, which can be caused by single-gene defects, chromosomal disorders, multifactorial inheritance, environmental teratogens or micronutrient malnutrition.

    This manual is intended to serve as a tool for the development, implementation and ongoing improvement of a congenital anomalies surveillance programme, particularly for countries with limited resources. The focus of the manual is on population-based and hospital-based surveillance programmes. Some countries might not find it feasible to begin with the development of a population-based programme. Therefore, the manual covers the methodology needed for the development of both population-based and hospital-based surveillance programmes. Further, although many births in predominantly low- and middle-income countries (LMICs) occur outside of hospitals, some countries with limited resources might choose to start with a hospital-based surveillance programme and expand it later into one that is population-based. Any country wishing to expand its current hospital-based programme into a population-based programme, or to begin the initial development of a population-based system, should find this manual helpful in reaching its goal.

    This manual provides selected examples of congenital anomalies (see Appendix A). These anomalies are severe enough that many would probably be captured during the first few days following birth. While a number of the anomalies listed are external and easily identified by physical exam, others are internal and typically require more advanced diagnostic evaluations such as imaging. However, because of their severity and frequency, all these selected conditions have significant public health impact, and for some there is a potential for primary prevention. Nevertheless, these are just suggestions; countries might choose to monitor a subset of these conditions or add other congenital anomalies to meet their needs.

    WHO thanks the United States Centers for Disease Control and Prevention, especially the National Center on Birth Defects and Developmental Disabilities, for providing financial support for the publication of this manual as part of the cooperative agreement 5 E11 DP002196, Global prevention of noncommunicable diseases and promotion of health. Supported in part by contract from Task Force for Global Health to the International Center on Birth Defects (ICBD) of the ICBDSR. We gratefully acknowledge and thank the United States Agency for International Development for providing financial support for this work.

    Suggested citation. Birth defects surveillance: a manual for programme managers, second edition. Geneva: World Health Organization; 2020. Licence: CC BY-NC-SA 3.0 IGO.

    9789240015395 (‎electronic version)‎

    9789240015401 (‎print version)‎


  • Content Notes:
    Acknowledgements -- Financial support -- Abbreviations -- Objectives of the manual -- 1. Surveillance of congenital anomalies -- 2. Planning activities and tools -- 3. Approaches to surveillance -- 4. Dianosing congenital anomalies -- 5. Congenital infectious syndromes -- 6. Coding and diagnosis -- 7. Primer on data quality in birth defects surveillance.
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