Public Health Tools for Congenital Anomalies
Essential tools that can be employed by countries wishing to strengthen national policies on the surveillance of birth defects. This section also contains a toolkit specific to planning for Zika Virus outbreaks.
Word Health Organisation (WHO) Congenital Anomalies topic page.
The congenital anomaly section within the WHO Health Topics provides the reader with some general information on the global burden of congenital anomalies as well as some more specific information on topics such as community based support for children with spina bifida and hydrocephalus living in Uganda, guidelines on food fortification with micronutrients, prevention of neural tube defects and use of efavirenz during pregnancy. Links to the Birth Defects Surveillance atlas and manuals are also available here.
World Health Assembly report on birth defects 2010
World Health Assembly resolution WHA63.17 on birth defects
Global Strategy for Women's, Children's and Adolescents' Health, 2016-2030
Methods for surveillance and monitoring of congenital syphilis elimination within existing systems
United Nations Convention on the Rights of Persons with Disabilities
Regional Communications Strategy for the prevention and control of birth defects (developed by the SE Asia Region)
Hospital-based Birth Defects Surveillance: A Guide to establish and operate (developed by the SE Asia Region)
World Birth Defects Day
World Birth Defects Day is on March 3 every year. The purpose of WBDD is to: Provide a platform to advocate for increased economic, political, and intellectual support to improve birth defects surveillance, prevention, care, and research by global communities and countries; Raise awareness about the occurrence and impact of birth defects globally; Raise awareness about the need for early and appropriate lifelong care; Raise awareness about the ability of people with birth defects to participate in society; Raise awareness of the global toll of death and disability from birth defects; Raise awareness about the existing opportunities for people with birth defects to achieve their potential. The website has many tools useful for advocacy, and reviews activities worldwide.
World Health Organization, Regional Office for South-East Asia (WHO-SEARO) Prevention and Control of Birth Defects in South-East Asia Region, Strategic Framework 2013-2017
This framework guides Member States to establish or strengthen national policies and programmes to prevent birth defects and develop national surveillance mechanisms. It promotes integration of birth defects prevention and control strategies into public health programmes like maternal and child health, nutrition, immunization and others. The important role of multisectoral partnerships and networks to support such programmes is duly emphasized.
It is acknowledged that countries in the Region have opportunities to integrate preventive programmes for birth defects in their existing public health and related programmes. However, due to the complexity of the problem, countries may like to prioritize selected birth defects and implement cost-effective strategies, adopting pragmatic and feasible approaches for their prevention in a phased manner. It is hoped that the Member States and partners would find this Strategic Framework useful while designing national plans for prevention and control of birth defects.
Prevent birth defects – Ensure quality of life and dignity
WHO’s regional Office for South-East Asia (SEARO) policy brief is a reference for those responsible for health policy and planning. This policy brief is written to help countries accelerate progress toward the unfinished task of MDG4 (Millennium Development Goals) for reducing child mortality. Programme implementers and health administrators would find the policy brief useful to: 1) plan actions for integrating birth defects prevention and control into existing public health programmes; 2) sensitize stakeholders to the burden and prevention opportunities of birth defects; and 3) develop and strengthen partnerships for birth defects prevention in the region. The policy brief includes specific briefs on elimination of congenital syphilis and congenital rubella, and fortifying food with folic acid.
Birth Defects in South-East Asia – A Public Health Challenge: Situational Analysis
This regional situation analysis of countries in South-East Asia is useful to develop prevention programmes for birth defects in the Member States of the region. This situational analysis is based on published literature and information obtained from experts and national programme managers from the Member States in the region.
WHO Pan American Health Organization (PAHO): A consensus statement on birth defects surveillance, prevention, and care in Latin America and the Caribbean
Una declaración de consenso respecto a la vigilancia, prevención y atención de los defectos congénitos en América Latina y el Caribe
Declaração de consenso sobre vigilância, prevenção e atenção de malformações congênitas na América Latina e no Caribe.
The consensus statement lists key actions for maximizing birth defects surveillance, prevention, and care in Latin America and the Caribbean: 1) improving surveillance; 2) reducing risks for birth defects; 3) fortifying staple foods; 4) preventing and treating infections associated with birth defects; 5) implementing newborn screening; 6) providing care and services for people with birth defects and disabilities; 7) involving governments, civil society, and international agencies; and 8) advancing research for birth defects.
Birth Defects and Childhood Disability Research Centre (India)
The Birth Defects and Childhood Disability Research Centre is a non-government organisation with the mission of research and advocacy for prevention, care, surveillance and competency development for addressing birth defects in India.
Survival for Women and Children (SWACH) Foundation
Survival for Women and Children (SWACH) Foundation is a non-profit organization working in the areas of the field of reproductive maternal and newborn, child, adolescent health, school health, water and sanitation, communicable diseases prevention, mental health and strengthening health systems. Based in Haryana, India. It undertakes birth defect surveillance and improvement of the quality of care.
ICBDSR: PEACE Tool – Population Estimate of Attributable Fraction of Congenital Conditions Everywhere
PEACE is a tool that customizes the whole calculation of population attributable fraction for your population - a population with a certain pattern of risk factor frequency and outcome frequency. You enter your population data (risk factor frequency and outcome frequency) and the tool calculates the number of cases estimated to be due to the exposures in your setting.
The PEACE tool is a useful accompaniment to the concept of Triple Surveillance – surveillance that covers the prevalence of risk factors, of congenital anomalies, and of healthcare outcomes:
- Triple surveillance: a proposal for an integrated strategy to support and accelerate birth defect prevention
- From cause to care: Triple surveillance for better outcomes in birth defects and rare diseases
NCBI bookshelf Reducing Birth Defects: Meeting the Challenge in the Developing World
Reducing Birth Defects: Meeting the Challenge in the Developing World includes descriptions of successful programs and presents a plan of action to address critical gaps in the understanding, prevention, and treatment of birth defects in developing countries. This study also recommends capacity building, priority research, and institutional and global efforts to reduce the incidence and impact of birth defects in developing countries.
This study addresses the steps needed to improve the prevention of and care for birth defects by:
- Reviewing current knowledge and practices for a healthy pregnancy
- Identifying cost-effective opportunities for prevention of birth defects and support of families with a handicapped infant
- Recommending capacity-building, priority research, and institutional and global efforts to reduce the incidence and impact of birth defects in developing countries
Public Health Genomics Toolkit for Health Needs Assessment in Congenital Disorders
The PHG Foundation is a non-profit think tank with a special focus on how genomics and other emerging health technologies can provide more effective, personalised healthcare and deliver improvements in health for patients and citizens. The PHG Foundation Toolkit supports users to conduct a health needs assessment (HNA) in relation to congenital disorders. HNA is a systematic way to identify unmet health needs in a population. The aim of the toolkit is to improve the lives of people living with congenital disorders and reduce the burden of disease, by providing a framework for public health professionals to work against when devising a health needs assessment.
Healthy Newborn Network
HHN is an establish global community of maternal and newborn health professionals and practitioners dedicated to addressing critical knowledge gaps in newborn health. HHN covers the key issues related to maternal and newborn health and includes global data, the latest in evidenced-based interventions and the thinking of the world's leading thinking subject matter experts. On the website, they have the latest news, blogs, and events from over 70 countries across the globe.
EUROCAT-EUROPLAN Recommendations on policies to be considered for the primary prevention of congenital anomalies in National Plans and Strategies on Rare Diseases
Most congenital anomalies are rare and form an important group of Rare Diseases, for which EU Member States are developing National Plans. Primary prevention of congenital anomalies was identified as an important action in the field of Rare Diseases in the Communication from the Commission to the European Parliament, the Council, the European economic and social committee and the committee of the regions of 11th November 2008. This document aims at providing an outline of evidence-based policy actions for primary prevention of congenital anomalies. It does not seek to recommend specific policy options, rather to indicate the areas that Member States could target in their strategies for Primary Prevention of congenital anomalies. Within the scope of this document, primary prevention includes any evidence-based action aimed at reducing environmental risk factors for congenital anomalies and increasing protective environmental factors.
EUROCAT Public Health Indicators
The EUROCAT Public Health Indicators summarise the epidemiological information from EUROCAT registries concerning prevalence, perinatal mortality and prenatal diagnosis. They are useful for communication of key information to policy makers.
EUROCAT Special Report: Geographic Inequalities in Public Health Indicators Related to Congenital Anomalies
Paper 2: EUROCAT public health indicators for congenital anomalies in Europe
Global Burden of Disease
The Global Burden of Disease (GBD) approach endeavors to measure disability and death from a multitude of causes worldwide. It has grown over the past two decades years into an international consortium of more than 1,000 researchers, and its estimates are being updated annually. Publications cover estimates of all-cause mortality, deaths by cause, years of life lost, years lived with disability, disability-adjusted life years, prevalence and incidence, and specific estimates relating to congenital anomalies can be found in these publications, including geographic differences and trends over time. Note that GBD estimates cover livebirths only and do not include stillbirths or terminations of pregnancy for fetal anomaly, and therefore give only a partial picture of congenital anomalies.
FOLIC ACID TO PREVENT NEURAL TUBE DEFECTS
PUSH! Global Alliance
PUSH! Global Alliance is a platform for organisations to advance the greatest benefit to those affects by spina fifida and hydrocephalus. Recognizing that knowledge is power, PUSH! has developed Global Report Cards for Spina Bifida and Hydrocephalus Prevention and Care. The report cards provide country and regional snapshots of indicators grouped by World Health Organization (WHO) regions.
Optimal serum and red blood cell folate concentrations in women of reproductive age for prevention of neural tube defects: Guideline
This guideline provides global, evidence-informed recommendations on blood folate concentrations in women of reproductive age for the prevention of neural tube defects in populations.
The Story of Folic Acid Fortification
A new documentary on the history of folic acid by Birth Defects COUNT, CDC’s global initiative to reduce death and lifelong disability
The Food Fortification Initiative (FFI)
The Food Fortification Initiative (FFI) is an international partnership working to improve health through fortification of industrially milled grain products: wheat flour, maize flour, and rice. The support provided includes: Communications resources on the benefits of fortification, Technical assistance in planning, implementing and monitoring fortification programs, Tracking progress at the country and global levels. FFI primarily support national stakeholders in the public, private and civic sectors. The nutrients most commonly used in post-harvest grain fortification are iron and folic acid, a B vitamin. Other nutrients that can be added are zinc, vitamin A, vitamin D, and other B vitamins such as niacin, thiamine, riboflavin and B 12.
Smarter Futures is a partnership that provides technical support and training for flour millers, governmnet food control staff, and other stakeholders in Africa with regard to fortification of wheat and maize flour, and more recently rice, with vitamins and minerals. Smarter Futures partners with the above mentioned Food Fortification Initiative (FFI), along with the International Federation for Spina Bifida and Hydrocephalus (IF), the Global Alliance for Improved Nutrition (GAIN), Nouryon, Helen Keller International, Muhlenchemie, Nutrition International, the World Food Programme, Buhler, and the Ministry of Foreign Affairs of the Netherlands.
TOOLS TO MANAGE A ZIKA EPIDEMIC
Educational tools include a free online course on Zika vector control as well as several video resources on Zika virus including; Congenital Zika Syndrome, pathogenesis of Zika virus infection, neurological manifestations, diagnostics innovation, current vs historical Zika virus, mathematical modelling to inform health policies, dissemination and communication and WEAR (wearable Aedes repellent technology).
Online Zika Training
This eLearning course, available in English and Spanish, was made possible through support provided by the Bureau for Global Health, U.S. Agency for International Development, under the terms of an Interagency Agreement with the United States Centers for Disease Control and Prevention. The online resource consists of six training units: Introduction to Birth Defects, Lessons Learned from the Zika Outbreak 2015-2016, Zika - Case Definitions and Diagnostics Guidelines, Microcephaly and Congenital Zika Syndrome, and use of data for public health purposes.
Screening, Assessment and Management of Neonates and Infants in Context of Zika Virus
This guidance is intended to inform the development of national and local clinical protocols and health policies that relate to neonatal and infant care in the context of Zika virus transmission. It is not intended to provide a comprehensive practical guide for the management of Zika virus infections or neonatal neurological conditions including microcephaly.
How to use neonatal TORCH testing
This review provides an overview for health professionals of the pathogenesis, epidemiology and clinical consequences of congenital TORCH (Toxoplamosis, Other, Rubella, Cytomegalovirus, Herpes) infections in pregnancy and discusses the indications for and interpretation of, TORCH screens.
Prevention of Congenital Infection Syndromes
Congenital Syphilis: WHO | WHO guideline on syphilis screening and treatment for pregnant women
Congenital Rubella: WHO_SurveillanceVaccinePreventable_03_CRS_R2.pdf (tghn.org)
Congenital Cytomegalovirus: Global and Regional Congenital Cytomegalovirus (CMV) Epidemiology and Burden: Systematic Review and Meta-Analysis by Paddy Ssentongo, Christine Hehnly, Patricia Birungi, Mikayla A. Roach, Jada Spady, Claudio Fronterre, Ming Wang, Laura E. Murray-Kolb, Laila Al-Shaar, Vernon M. Chinchilli, James R. Broach, Jessica E. Ericson, Steven J. Schiff : SSRN
Community Genetics Network
Members of the International multidisciplinary community genetics network are all those who expressed their wish to become a member and are willing to pay a small yearly fee. As Community Genetics Network is a non-profit organization, fees are held as low as possible, and depend on the member's country of residence as we differentiate between high, upper middle, lower middle and low income status, accodring to World Bank definitions. The benefits of being a member of this network are twofold. By means of our biweekly email newsletters, we inform other members about your publications, and via the same newsletters you will be kept posted about the papers of almost 1200 other researchers interested in human genetic and/or congenital disorders, related activities such as genetic screeing and genetics services, and ELSI-aspects. We also spread news about courses, conferences, positions available, and other items of interest.
The Society for Birth Defects Research & Prevention
To understand and prevent birth defects and disorders of developmental and reproductive origin, the Society for Birth Defects Research & Prevention (first established in 1960 as the Teratology Society) promotes multi-disciplinary research and exchange of ideas; communicates information to health professionals, decision-makers, and the public; and provides education and training. Their website includes: free lectures on teratology; information on conferences; and, a link to the American College of Toxicology/Teratology Society course. The Birth Defects Research Journal is available for subscribed members; however, the website also contains freely available position papers as well as fact sheets and presentations.
The US Centers for Disease Control and Prevention's website contains tips and tools regarding preconception health. Preconception health and health care focus on taking steps now to protect the health of a baby in the future. However, preconception health is important for all women and men, whether or not they plan to have a baby one day.
The National Preconception Health and Health Care (PCHHC) initiative is a public-private partnership of over 70 organizations focused on improving the health of young women and men and any children they may choose to have. PCHHC's website contains preconception resources and training for professionals.
Information about teratogens: maternal medications and environmental exposures
UK Teratology Information Service (UKTIS)
The UK Teratology Information Service (UKTIS) is commissioned by Public Health England on behalf of UK Health Departments. They provide a national service on all aspects of the toxicity of drugs and chemicals in pregnancy. Information can be provided to health professionals in the United Kingdom via telephone or online through TOXBASE. However, there is also a detailed list maternal and paternal exposures on their website with information available for both healthcare providers and patients. They also have a facility that allows women to report pregnancy exposures via ‘bumps’ (Best Use of Medicines in Pregnancy). A key role of UKTIS is to collect pregnancy outcome data from women who have been exposed to drugs and chemicals in pregnancy. This surveillance provides prospective data on the incidence of fetal complications. Such information is fundamental to expanding the limited available data on which to base advice and contribute to the provision of an individual risk assessment for a pregnant woman exposed to drugs and chemicals, and preconception advice for men and women concerning drug and chemical exposures. These follow up data are included in UKTIS monographs and are also published in peer reviewed journals.
UKTIS website includes a large series of leaflets written for pregnant women: https://www.medicinesinpregnancy.org/Medicine--pregnancy/
Germany Teratogen Information Service (Embryotox)
The Pharmacovigilance and Counseling Center for Embryonic Toxicology of the Charité-Universitätsmedizin Berlin is a publicly funded institute, which since 1988 has been providing medical and other healthcare professionals with independent information on the tolerability of key medicines and on the treatment of common diseases during pregnancy and lactation. Within the framework of the pharmacovigilance network of the Federal Institute for Drugs and Medical Devices (BfArM) , data is collected (online or by phone) on the course of pregnancies in which the centre acts in an advisory capacity and these data are evaluated together with similar centers in other European centres.
TERIS - The Teratogen Information System
The TERIS database consists of a series of agent summaries (currently over 1,700 agents, including 200 of the most frequently prescribed drugs), each of which is based on a thorough review of the published clinical and experimental literature. TERIS offers yearly subscriptions for individual, non-commercial use and also offers licensing for volume or commercial use. TERIS is housed in the Department of Environmental & Occupational Health Sciences at the University of Washington School of Public Health.
REPROTOX – the Reproductive Toxicology Database
REPROTOX® contains summaries on the effects of medications, chemicals, infections, and physical agents on pregnancy, reproduction, and development. The REPROTOX® system was developed as an adjunct information source for clinicians, scientists, and government agencies. Subscriptions available for individuals and institutions.
The primary clinical toxicology database of the UK National Poisons Information Service. Internet and app. Subscriptions available for those working outside the UK NHS.
The Modell Global Database of Congenital Disorders (MGdB)
The Modell Global Database of Congenital Disorders provides conservative estimates for a sub-set of endogenous congenital disorders (CDs) based on best available data, with the goal of estimating the burden of CDs in ways that will support and promote policymaking and the delivery of appropriate services. Individual estimates may be based on incomplete information, and are open to continuous revision. Contributions and corrections from users are welcomed to improve estimates by email to firstname.lastname@example.org.
The Modell Global Database of Congenital Disorders is a research output of the UCL Centre for Health Informatics & Multiprofessional Education (CHIME), a research department of the Institute of Health Informatics.
Birth Defects in India
Important new book “Birth Defects in India”, edited by Anita Kar, with sections on public health, surveillance, prevention, services, quality of life, stigma.