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Birth Defects Surveillance a Manual for Programme Managers

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Birth Defects Surveillance a Manual for Programme Managers BIRTH DEFECTS SURVEILLANCE A MANUAL FOR PROGRAMME MANAGERS Birth defects surveillance: a manual for programme managers i WHO I CDC I ICBDSR WHO I CDC I ICBDSR ii Birth defects surveillance: a manual for programme managers BIRTH DEFECTS SURVEILLANCE A MANUAL FOR PROGRAMME MANAGERS Birth defects surveillance: a manual for programme managers i WHO I CDC I ICBDSR WHO Library Cataloguing-in-Publication Data Birth defects surveillance: a manual for programme managers. 1.Congenital abnormalities – epidemiology. 2.Congenital abnormalities – prevention and control. 3.Neural tube defects. 4.Public health surveillance. 5.Developing countries. I.World Health Organization. II.Centers for Disease Control and Prevention (U.S.). III.International Clearinghouse for Birth Defects Monitoring Systems. ISBN 978 92 4 154872 4 NLM classification: QS 675 © World Health Organization 2014 All rights reserved. Publications of the World Health Organization are available on the WHO web site (www.who.int) or can be purchased from WHO Press, World Health Organization, 20 Avenue Appia, 1211 Geneva 27, Switzerland (tel.: +41 22 791 3264; fax: +41 22 791 4857; e-mail: [email protected]). Requests for permission to reproduce or translate WHO publications –whether for sale or for non- commercial distribution– should be addressed to WHO Press through the WHO web site (www.who.int/about/licensing/copyright_form/en/index.html). The designations employed and the presentation of the material in this publication do not imply the expression of any opinion whatsoever on the part of the World Health Organization concerning the legal status of any country, territory, city or area or of its authorities, or concerning the delimitation of its frontiers or boundaries. Dotted lines on maps represent approximate border lines for which there may not yet be full agreement. The mention of specific companies or of certain manufacturers’ products does not imply that they are endorsed or recommended by the World Health Organization in preference to others of a similar nature that are not mentioned. Errors and omissions excepted, the names of proprietary products are distinguished by initial capital letters. All reasonable precautions have been taken by the World Health Organization to verify the information contained in this publication. However, the published material is being distributed without warranty of any kind, either expressed or implied. The responsibility for the interpretation and use of the material lies with the reader. In no event shall the World Health Organization be liable for damages arising from its use. Design and layout: Alberto March Suggested citation WHO/CDC/ICBDSR. Birth defects surveillance: a manual for programme managers. Geneva: World Health Organization; 2014. WHO I CDC I ICBDSR ii Birth defects surveillance: a manual for programme managers Acknowledgements This manual is a collaborative effort between the World Health Organization (WHO), the National Center on Birth Defects and Developmental Disabilities from the US Centers for Disease Control and Prevention (CDC) and the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). We would like to acknowledge the technical input in the preparation of this manual of staff from CDC’s National Center on Birth Defects and Developmental Disabilities (NCBDDD), ICBDSR and WHO, particularly, from the following individuals (in alphabetical order): Dr Jose Fernando Arena, Dr Alejandro Azofeifa, Dr Robert J Berry, Dr Marie Noel Brune Drisse, Dr Jan Ties Boerma, Dr Lorenzo Botto, Dr Luz Maria De-Regil, Ms Alina Flores, Dr Jaime Frías, Dr Melba Filimina Gomes, Dr Margarett Davis, Dr Margaret Honein, Dr Elizabeth Mary Mason, Dr Pierpaolo Mastroiacovo, Dr Mario Merialdi, Dr Cynthia Moore, Dr Joseph Mulinare, Dr Maria Neira, Dr Juan Pablo Peña-Rosas, Dr Vladimir B Poznyak, Dr Francoise Renaud, Dr Jorge Rosenthal, Dr Csaba Siffel, Dr Joseph Sniezek, Dr Gretchen Stevens, Dr Marleen Temmerman, Ms Diana Valencia and Dr Severin Von Xylander. The drawings in Chapter 4 and the working logic model in Appendix D were all supplied by CDC/NCBDDD. We would also like to thank Dr Rajesh Mehta and Dr. Neena Raina from the WHO Regional Office for South-East Asia and the US National Birth Defects Prevention Network, for providing valuable feedback during the development process. WHO, CDC and ICBDSR gratefully acknowledge the technical input of the meeting participants for the global and regional training on surveillance of birth defects. Financial support WHO thanks the US CDC, 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 non- communicable diseases and promotion of health. Birth defects surveillance: a manual for programme managers iii WHO I CDC I ICBDSR Contents Abbreviations vi Objectives of the manual 1 1. Surveillance of congenital anomalies 2 Introduction 2 The purpose of congenital anomalies surveillance 2 Types of surveillance programmes 3 Congenital anomalies: definitions 3 2. Planning activities and tools 6 Logic models 6 Partners and funding 9 Legislation 10 Privacy and confidentiality issues 10 Data dissemination 11 Communicating with parents 12 3. Approaches to surveillance 13 Population coverage 13 Case ascertainment 18 Case finding 20 Case inclusion 21 Description formats for congenital anomalies 22 Age of inclusion 23 Inclusion of pregnancy outcomes 24 Coding system 27 Potential inclusion/exclusion criteria 27 Examples of inclusion criteria for population-based surveillance 27 Examples of inclusion criteria for hospital-based surveillance 28 Examples of exclusion criteria for both population- and hospital-based surveillance 29 Core ascertainment variables 30 Data-collection methods and tools 32 Data management and protocols 34 Data collection and management 36 WHO I CDC I ICBDSR iv Birth defects surveillance: a manual for programme managers 4. Diagnosing and coding congenital anomalies 40 Initial list of congenital anomalies to consider for monitoring 40 Congenital malformations of the nervous system 42 Cleft lip and cleft palate 52 Congenital malformations of genital organs 56 Congenital malformations and deformations of the musculoskeletal system 58 5. Coding 68 Coding of congenital anomalies 68 International Classification of Diseases 68 Personnel responsible for diagnosing and coding 70 Effect of the certainty of diagnosis on coding 70 Coding multiple congenital anomalies 70 Use of codes for surveillance, data analysis and presentation 71 References 74 Glossary of terms 77 Appendix A. Suggested initial list of congenital anomalies to consider for monitoring and relevant ICD-10 codes 88 Appendix B. External minor congenital anomalies 89 Appendix C. Causes of congenital anomalies and classification according to developmental mechanism and clinical presentation 97 Appendix D. Sample logic model 100 Appendix E. Worksheet for capacity development 102 Appendix F. Suggestions for delivering the news of a congenital anomaly diagnosis to a family 103 Appendix G. Sample abstraction form 104 Appendix H. Potential core variables 106 Appendix I. Potential optional variables 110 Appendix J. Suggestions for taking photographs of a fetus or neonate with a congenital anomaly 112 Appendix K. Prevalence of selected anomalies by surveillance programme during 2004–2008 113 Birth defects surveillance: a manual for programme managers v WHO I CDC I ICBDSR Abbreviations CDC United States Centers for Disease Control and Prevention ICBDSR International Clearinghouse for Birth Defects Surveillance and Research ICD-10 International statistical classification of diseases and related health problems, 10th revision NBDPN National Birth Defects Prevention Network NCBDDD National Center on Birth Defects and Developmental Disabilities NGO nongovernmental organization NOS not otherwise specified RCPCH Royal College of Paediatrics and Child Health USA United States of America WHO World Health Organization WHO I CDC I ICBDSR vi Birth defects surveillance: a manual for programme managers Objectives of the manual Congenital anomalies, also known as birth defects, are structural or functional abnormalities, including metabolic disorders, which are present from 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 may 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 occur outside of hospitals, some countries with limited resources may 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
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