Inventory Introduction
Categories:
Birth Defect Surveillance Organisations/Networks
Congenital Anomaly Atlases and Manuals for diagnosis and coding
Newborn Examination
Manuals/Software for Congenital Anomaly Registration and Surveillance
Information on Genetic Syndromes
Training programmes/frameworks for congenital anomaly surveillance
Public Health Tools for Congenital Anomalies
Information on Congenital Anomalies written for parents
Birth Defect Surveillance Organisations/Networks
Expert organisations and networks involved with the research and surveillance of congenital anomalies across the world. Each of these networks have lists of member national surveillance programmes.
Latin American Collaborative Study of Congenital Malformations (ECLAMC)
ECLAMC is a program of clinical and epidemiological investigation of developmental congenital anomalies in Latin American hospital births. This is a research program of risk factors in causing malformations, under case-control methodology. In member hospitals, babies born with a congenital anomaly are registered, and for each baby with a congenital anomaly a baby without congenital anomaly is registered as a control. Since more than half of the defects have unknown causes, the main objective and strategy is the prevention by research.
Visit: http://www.eclamc.org/
Red Latino Americana de Malformaciones Congénitas (RELAMC)
A new network of Latin American surveillance systems for congenital anomalies, including both national congenital anomaly registries and ECLAMC, is forming, see the ZikPLAN website for more information.
Visit: https://zikaplan.tghn.org/news/establishing...
International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR)
This voluntary non-profit international organisation is comprised of 42 member programmes and works to unite birth defect surveillance and research programmes from around the world. ICBDSR assists local registries with monitoring trends in the prevalence of birth defects and developing strategies to prevent them.
Information is available on the members’ directory, upcoming international meetings and resources such as the PreSurv Suite and PEACE Tool. There is also an information section on Zika Virus Infection.
Visit: http://www.icbdsr.org/
European Surveillance of Congenital Anomalies (EUROCAT)
EUROCAT is the European network of population-based registries for the epidemiologic surveillance of congenital anomalies. It receives data from 23 European countries. The EUROCAT website contains critical information on coding and classification, prevalence data, key public health indicators, prevention, prenatal screening and statistical monitoring. The website also has details of publications, European Symposia, the EUROCAT Data Management Program and contact details for all member registries.
Visit: http://www.eurocat-network.eu
South-East Asia Region New-born and Birth Defects (SEAR-NBBD) Surveillance Initiative
In 2014, WHO-SEARO created an online system of newborn-birth defects (SEAR-NBBD) database. The system was designed to support data management for newborn health, birth defects and stillbirths. The aim is to establish robust assessment of neonatal health and monitor the occurrence of birth defects in the region; to set relevant and appropriate baseline measures. This surveillance network in collaboration with CDC-USA also provides the necessary training and monitoring required to run the system effectively.
Visit: http://www.searo.who.int/entity/child...
Centers for Disease Control and Prevention (CDC)
The Centers for Disease Control and Prevention feature a specific resource area on birth defects. This area contains key information on birth defect prevalence statistics for the United States, prevention of birth defects and materials/multimedia both for healthcare professionals and families. There are also birth defects tracking logic models and tools for healthcare professionals and researchers interested in this field as well as surveillance guidelines. The website also contains specific clinical information on a range of birth defects.
Visit: https://www.cdc.gov/ncbddd/index.html
National Birth Defects Prevention Network (NBDPN)
The NBDPN is a volunteer-based organization that addresses the issues of birth defects surveillance, research, and prevention under one umbrella by maintaining a national network of state and population-based birth defects programs. Members include public health professionals, epidemiologists, academics, parents, and others committed to understanding factors that may lead to birth defects, identifying strategies for reducing birth defects, and working to prevent potential secondary disabilities through earlier detection and optimal care.
Visit: https://www.nbdpn.org
TDR, the Special Programme for Research and Training in Tropical Diseases, is a global programme of scientific collaboration that helps facilitate, support and influence efforts to combat diseases of poverty. It is hosted at the World Health Organization (WHO), and is sponsored by the United Nations Children’s Fund (UNICEF), the United Nations Development Programme (UNDP), the World Bank and WHO. WHO-TDR runs a pregnancy registry in a number of African countries, for monitoring of outcomes of medication exposures in pregnancy.
Visit: http://www.who.int/tdr/en/
Folic Acid: Birth Defects Count
Birth Defects COUNT (Countries and Organizations United for Neural Tube Defects Prevention) is a global initiative to reduce death and lifelong disability resulting from neural tube defects, which are serious birth defects of the brain and spine.
CDC’s National Center on Birth Defects and Developmental Disabilities is working with the World Health Organization (WHO) and other partners on Birth Defects COUNT. The initiative builds on the success of folic acid fortification of cereal grain products labeled as enriched in many countries. A key strategy of the initiative is to increase folic acid intake among women of reproductive age to prevent neural tube defects. These efforts can have a significant impact on death and lifelong disability worldwide. BD Count helps countries establish and strengthen birth defect surveillance.
Visit: https://www.cdc.gov/ncbddd/birthdefectscount/cdc.html
Organization of Teratology Information Specialists (OTIS)
The Organization of Teratology Information Specialists (OTIS) is organized exclusively to stimulate and encourage the dissemination of knowledge, education, and research in the field of clinical teratology, and to improve the abilities of teratology information services to provide accurate and timely information about prenatal exposures with the overall objective of improving the public health. MotherToBaby, a service of the Organization of Teratology Information Specialists, is dedicated to providing evidence-based information to mothers, health care professionals, and the general public about medications and other exposures during pregnancy and while breastfeeding. Not only do the experts at MotherToBaby provide information about exposures in pregnancy, they are also actively adding to that information by conducting MotherToBaby Pregnancy Studies.
Visit: http://www.mothertobaby.org/
European Network of Teratology Information Services (ENTIS)
The general objective for ENTIS is to coordinate and collaborate the activities of the different Teratology Information Services (TIS), and to collect and evaluate data in order to contribute to the primary prevention of birth defects and developmental disorders.
Visit: https://www.entis-org.eu/
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.
Visit: http://www.uktis.org/index.html
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.
Visit: http://www.embryotox.de/einfuehrung.html
Congenital Anomaly Atlases and Manuals for diagnosis and coding
A selection of common birth defects with multiple photographs and illustrations as well as ICD-10 classification and RCPCH extension codes
International Classification of Disease v10. Chapter XVII.
Congenital anomalies are coded with Q codes in Chapter XVII available in online and paper versions. There are 3 digits after the letter Q. Many congenital anomaly surveillance systems recommend using the Royal College of Paediatrics and Child Health(RCPCH)/British Paediatric Association(BPA) extension code with one extra digit added to the ICD10 Q code. This extension code is available from the EUROCAT website at here.
Visit: http://apps.who.int/classifications/icd10/browse...
WHO/ICBDSR/CDC Birth defects surveillance: atlas of selected congenital anomalies
This atlas is a companion tool to Birth defects surveillance: a manual for programme managers. It contains images, diagrams and information on neural tube defects, cleft lip and palate, genital anomalies, upper and lower limb defects and abdominal wall defects as well as their ICD-10 classification and RCPCH extension codes. This atlas covers major external malformations seen after birth and is intended to assist the user with development of local surveillance protocols by providing healthcare professionals with a resource for which to compare birth defects against.
Visit: http://www.who.int/nutrition/publications/birthdefects_atlas/en/
ECLAMC Congenital Abnormalities Atlas
This atlas is an online browser of congenital anomalies and is intended for the use of healthcare professionals as well as those involved in coding and registration of congenital anomalies. The atlas covers a wide range of major and minor external malformations as well as some internal anomalies. Anomalies can be searched for through body region, name or ICD-10 code. The atlas contains an extensive catalogue of photographs.
Visit: http://en.atlaseclamc.org/
EUROCAT Syndrome Guide. Definition and Coding of Syndromes (Revised 2017)
The Syndrome Guide is intended for use by EUROCAT congenital anomaly registries with a primary purpose of congenital anomaly surveillance and epidemiological research. The aim is to help the coders to code properly and with sufficient details rare genetic syndromes, skeletal dysplasias, associations and sequences. The list of syndromes concentrates on those which are mostly diagnosed in early infancy or prenatally, commonly associated with structural malformations and/or found in the Q-chapter of ICD10/BPA. A future, on-line version could include additional rare conditions usually presenting at birth and associated with congenital anomalies. The Guide gives ICD10/BPA code, ICD9/BPA code, OMIM code and ORPHA number for each syndrome. It also gives a list of conditions which should not be coded as syndromes. Recommendations are given on coding of microdeletion syndromes.
Visit: http://www.eurocat-network.eu/content/EUROCAT...
EUROCAT Guide 3 For the Description and Classification of Congenital Limb Defects
This guide was used as an instruction manual for the coding and reporting of limb defects to the EUROCAT Central Registry. It includes definitions of limb anomalies as well as descriptions and further sub-classification of them. This resource also contains a select number of illustrations to help further clarify the type of defect seen.
Visit: http://www.eurocat-network.eu/content/EUROCAT-Guide-3.pdf
The purpose of this atlas is to provide an online tool that can be used to assist clinicians with the diagnosis of human malformation syndromes in diverse populations. The atlas is still under construction and has a select number of syndromes available at present, such as Down, Turner, Angelman and Sotos Syndrome. There is a brief description of the syndrome and its incidence followed by a diverse collection of photographs from a variety of regions in Asia, the Indian subcontinent, the Middle-East, South America, and sub-Saharan Africa. This allows the user to consider ethnicity when assessing the phenotype. There is also a facility that allows the user to contribute photographs to the atlas with appropriate consent.
Visit: https://research.nhgri.nih.gov/atlas/
Elements of Morphology: Human Malformation Terminology. NHGRI
This online resource provides the user with standardised terminology for describing the human phenotype. It was developed by clinicians working in the field of dysmorphology and contains information on the terminology of dysmorphism the head, face, periorbital region, ears, nose, philtrum, mouth, hands and feet. The site also contains photographs to demonstrate each feature. Additional information on this resource is freely available in the special issue of the American Journal of Medical Genetics, available here.
Visit: https://elementsofmorphology.nih.gov/
Newborn Examination
Video tools detailing the recommended method of examining a newborn infant
WHO Newborn Surface Examination
This video shows how to assess a newborn for birth defects. Sometimes, birth defects can be linked to drug exposure during the pregnancy. However, early assessment for birth defects through newborn screening can also show that a treatment need not be contraindicated in pregnancy, because it has no risk for adverse outcomes. This screening can help get life-saving treatments to the mother, child or both. The training for this DVD was carried out by Prof Lewis Holmes, who trained Ghanaian nurse/midwives in a small facility outside Accra. After training, the health workers were filmed carrying out the assessments themselves. This DVD, developed by the World Health Organization through TDR and the Reproductive Health and Research Programme has been successfully used to train other health workers in five countries (four in Africa and one in South America). It supports a new protocol for a pregnancy registry.
Visit: http://www.who.int/tdr/publications/videos/stepwise...
Intergrowth 21st Project - Head circumference training video
The International Fetal and Newborn Growth Consortium for the 21st Century, or INTERGROWTH-21st, is a global, multidisciplinary network of more than 300 researchers and clinicians from 27 institutions in 18 countries worldwide. They are dedicated to improving perinatal health globally and committed to reducing the millions of preventable newborn deaths that occur as a result of preterm birth or poor intrauterine growth. Their training video demonstrates the correct and standardised method of measuring the head circumference of a newborn.
Visit: https://www.youtube.com/watch?v=HjOxS0hkPBU
Manuals/Software for Congenital Anomaly Registration and Surveillance
Useful resources for the development of congenital anomaly surveillance programmes
Birth Defects Surveillance: A manual for programme managers
This manual has been designed to assist with the local development of both population based and hospital based congenital anomaly surveillance systems. It is intended that the user will gain information on the planning and evaluation of a surveillance system as well as the coding of congenital anomalies and analysis of the data. Specific guidance is available on the use of logic models, legislation, consent and prevalence figures of selected anomalies in a range of countries. The manual is intended to be used in conjunction with the WHO/ICBDSR/CDC Birth defects surveillance: atlas of selected congenital anomalies.
Visit: http://www.who.int/nutrition/publications/birthdefects_manual/en/
PreSurv Suite is public domain suite of software tools designed for the global community of public health practitioners and researchers, for the Prevention and Surveillance of birth defects. It provides for data entry form and database construction, and data analyses and output for cases with birth defects. PreSurv Suite was developed by ICBD-International Centre on Birth Defects, Headquarter Centre of ICBDSR, in collaboration with CDC-Centers for Disease Control and Prevention. It is a EpiInfo based tool
Visit: http://www.icbdsr.org/resources/presurv/
EUROCAT is the European network of population-based registries for the epidemiologic surveillance of congenital anomalies. This Guide sets out the variables used by EUROCAT and their coding, lists minor congenital anomalies for exclusion, lists EUROCAT congenital anomaly subgroups and their ICD coding, describes data quality indicators, and algorithms for classification of multiple anomalies. Methodology used by EUROCAT is more fully described in a special issue of Birth Defects Research, read here.
Visit: http://www.eurocat-network.eu/aboutus/datacollection...
EUROCAT Data Management Program (EDMP)
The EUROCAT Data Management Program is a tool written in Microsoft Access used to assist with the collection, management, reporting and analysis of congenital anomaly data. It is compatible with EUROCAT Guide 1.4. It has an easy to use data entry, edit and search interface. Users can also import congenital anomaly data from other databases, and export their data to other databases. There is a standard data validation function. The program automatically assigning ICD10/BPA codes to EUROCAT subgroups, excludes the EUROCAT list of minor anomalies, and creates prevalence tables for all EUROCAT subgroups or user defined subgroups. A specific statistical monitoring module allows the detection of clusters and trends over time, as described in two publications: here and here. The EDMP is not currently available for download, but may be available on request.
Visit: http://www.eurocat-network.eu/aboutus/datacollection/edmp/edmpuserguide
EUROCAT Data Quality Indicators
As part of its data quality strategy, EUROCAT developed a set of data quality indicators (DQIs) in 2005. These DQIs are indicators calculated on the total dataset for each registry, which serve to highlight the strengths and weaknesses of the data. The DQIs help to focus the attention of registries on areas needing improvement, and they are useful to data users for the interpretation of data. The DQIs cover the following areas: completeness of case ascertainment, accuracy of diagnosis, completeness of information on EUROCAT variables, timeliness of data transmission, and availability of population denominator information. Tables comparing each registry to the average for the EUROCAT network are updated annually.
Visit: http://www.eurocat-network.eu/aboutus/datacollection...
A protocol has been published in BMC Pregnancy and Childbirth for collecting data on the risks of birth defects due to medicines for diseases like HIV and malaria. The major components of first line treatments for these diseases are not recommended during the first trimester, yet many women may take these medications before they are aware that they are pregnant. In sub-Saharan Africa, 68% of the world’s HIV population reside and approximately 25 million pregnant women are at risk of malaria, so the risks are great.
The protocol is neither disease nor drug-specific. Indeed, the power of the approach lies in its broad application to a variety of settings in which women may have more than one infectious disease or condition during the course of the pregnancy and may also have been exposed to many drugs. Its methods, case record forms and training materials (including a DVD showing how to conduct a surface examination of a newborn) have been tested for feasibility in five countries (four in Africa and one in South America), further refined and used in the WHO Pregnancy Registry. The approach is integrated within the reproductive health system of the country, specifically antenatal clinics and labor/delivery facilities.
There are three important features of this pregnancy registry protocol which stand out from most other registries. The first, is the simplicity of including women agreeing to take part at their first facility visit for care during the pregnancy. This not only represents the population of pregnant women coming for care but also enables later comparison of birth defects among women who have been exposed to a medicine with those who have not. The second feature is the generic applicability of the approach irrespective of drug or disease, and the third is the improvement of staff capacity to manage and monitor pregnancies and newborns. These qualities add to the practicality and cost-effectiveness of the protocol.
The materials developed are available to any country wishing to join the registry, on condition that there is a commitment to train the staff to use these materials to obtain reliable data on drug exposure and to conduct a systematic surface examination of the newborn. The registry builds capacity within the health system to improve maternal and neonatal care as well as to serve as a sentinel surveillance system for the safety of medicines used in pregnant women.
Visit: http://www.who.int/tdr/news/2012/pregnancy_registry_protocol/en/
Central registry for epidemiological surveillance of drug safety in pregnancy, WHO-TDR
The World Health Organization Central registry for epidemiological surveillance of drug safety in pregnancy is a collaborative initiative to generate reliable evidence on the safety of drugs during pregnancy. This work is developed by the Special Programme for Research and Training in tropical diseases (TDR) in collaboration with other WHO departments, in particular the HIV department, which recommends toxicity surveillance during pregnancy in the context of antiretroviral use.
The purpose is to facilitate pooling of safety data issued from local or national pregnancy exposure registries or collected in birth outcome surveillance programmes to support early detection of any potential signal of teratogenicity and provide evidence to inform treatment guidelines for pregnant patients. The pooled data will only be accessible to WHO, and the WHO will undertake periodic analysis of the data collected within the framework of signal detection. Countries, surveillance projects and researchers are invited to contribute data.
Visit: http://www.who.int/tdr/research/tb_hiv/drug-safety-pregnancy/en/
ECLAMC Operational Manual.
This is available on request to ECLAMC, in Spanish or Portuguese, including the registration protocol for cases and controls in hospitals, and data variables to be collected.
National Birth Defects Prevention Network Surveillance Guidelines
The technical guidelines in this document consist of a series of chapters covering the fundamental aspects of developing, planning, implementing, and conducting surveillance for birth defects and using the resulting data. They provide a way of improving the quality of birth defects surveillance data, which in turn enhances their use.
Visit: https://www.nbdpn.org/guidelines.php
GAIA: Global Alignment of Immunization Safety Assessment in Pregnancy
GAIA aims to improve data generated for strengthening programs of immunization in pregnancy by harmonizing maternal, pregnancy, fetal, and neonatal health outcome assessment with specific focus on Low and Middle Income Countries (LMIC). The following paper on congenital anomalies is available through this organization:
DeSilva M, Munoz FM, Mcmillan M, Kawai AT, Marshall H, Macartney KK, Joshi J, Oneko M, Rose AE, Dolk H, Trotta F, Spiegel H, Tomczyk S, Shrestha A, Kochhar S, Kharbanda EO; Brighton Collaboration Congenital Anomalies Working Group. Congenital anomalies: Case definition and guidelines for data collection, analysis, and presentation of immunization safety data. Vaccine. 2016 Dec 1;34(49):6015-6026. doi: 10.1016/j.vaccine.2016.03.047. (open access)
Visit: http://gaia-consortium.net/
Information on Genetic Syndromes
Specialist information on genetic disease, useful for those practicing in clinical genetics, but a number of resources may also be useful to the general physician/pediatrician
Orphanet. Encyclopaedia for Patients and Encyclopaedia for Professionals
Orphanet is the reference portal for information on rare diseases and orphan drugs. It offers a range of freely accessible services including an encyclopaedia of rare diseases in six languages, an inventory of orphan drugs, a directory of specialised services, emergency care and anaesthetic guidelines for specific conditions and access to the Orphanet data.
Visit: http://www.orphan.net/consor/cgi-bin/Disease.php?Ing-en
Online Mendelian Inheritance in Man (OMIM)
OMIM is an online catalogue of human genes and genetic disorders. Extensive information is available on the clinical features, genotype, inheritance, pathogenesis, diagnosis and management of each condition. It is produced and curated at the Johns Hopkins University School of Medicine.
Visit: http://omim.org/
The Human Phenotype Ontology (HPO) aims to provide a standardized vocabulary of phenotypic abnormalities encountered in human disease. Each term in the HPO describes a phenotypic abnormality, such as atrial septal defect. The HPO is currently being developed using the medical literature, Orphanet, DECIPHER, and OMIM. HPO currently contains approximately 11,000 terms (still growing) and over 115,000 annotations to hereditary diseases. The HPO also provides a large set of HPO annotations to approximately 4000 common diseases.
Visit: http://human-phenotype-ontology.github.io/
GeneReviews is a resource intended for clinicians, in particular those working in the field of Clinical Genetics. It contains up to date, peer reviewed clinical information on the diagnosis and management of an extensive range of genetic disorders as well as their recurrence risks and information on genetic counselling.
Visit: https://www.ncbi.nlm.nih.gov/books/NBK1116/
National Organization for Rare Disorders (NORD)
The National Organization for Rare Disorders is a non-profit organization that provides information for both families and their healthcare providers. It also acts as a patient advocacy body and assists patients with access to specialist treatments. NORD also administers research grants to encourage the study of rare diseases.
Visit: https://rarediseases.org/
U.S. National Library of Medicine. Genetics Home Reference
Genetics Home Reference is the National Library of Medicine website for consumer information about genetic conditions and the genes or chromosomes associated with those conditions. Information is available on genes, chromosomes, mitochondrial DNA and their associated health conditions.
Visit: https://ghr.nlm.nih.gov
Current Topics in Genome Analysis 2016
A series of 14 lectures covering contemporary areas in genomics and bioinformatics.
Visit: https://www.genome.gov/12514286/current-topics...
Training programmes/frameworks for congenital anomaly surveillance
A collection of freely available courses covering; coding, facilitating courses, surveillance methodology, implementation of programmes in low resource settings and developing strategies to prevent birth defects.
This course provides an overview of ICD-10 coding and can be used by physicians and those in a managerial role alike.
Visit: http://apps.who.int/classifications/apps...
Birth defects surveillance training: facilitator's guide
The goal of this course is to provide participants with the foundational skills needed to begin the development, implementation and ongoing improvement of a congenital anomalies surveillance programme, in particular for countries with limited resources. It focuses on the methodology needed to develop either population-based or hospital based surveillance programmes. A set of congenital anomalies will be used as examples throughout this course. The specific examples used are typically severe enough that they would probably be captured within the first few days after birth, have a significant public health impact and, for some of them, have the potential for primary prevention.
Visit: http://www.who.int/nutrition/publications/birthdefects_training...
ICBDSR Online Self-Paced Course on Birth Defect Surveillance and Prevention
The New edition: extensively revised and expanded, with videos, quizzes, discussion forum, and publications/resources. Developed for clinicians, epidemiologists, public health professionals, and anyone interested in understanding birth defects and improving their prevention and care. Self-paced: go at your own pace, in your own time zone, on your schedule. Developed by the International Center on Birth Defects (ICBD) and supported in part by funding from the National Center on Birth Defects and Developmental Disabilities, US Centers for Disease Control and Prevention through Agreement 2016-2017 with Task Force for Global Health. Language: English and Spanish versions.
Topics include:
1. The newborn exam (focus on congenital anomalies)
2. Selected major birth defects: from embryology to surveillance and prevention
3. Congenital infections as teratogens
4. Teratogenic medications and exposures
5. Short course on microcephaly (clinical evaluation, neuroimaging, genetics, surveillance) including basic elements of Zika assessment and response
Visit: http://www.icbdsr.org/online-self-paced-course-on-birth-defect-surveillance-and-prevention/
The objective of this training course on hospital-based birth defects surveillance (BDS) is to provide participants with the foundational skills needed to begin, implement and progressively improve hospital based birth defects surveillance. Hospitals are expected to initially include externally visible and major birth defects in the surveillance plan. A set of such birth defects will be used as examples throughout this course. These defects are typically severe enough that they would probably be captured within the first few days after birth, have a significant public health impact and, for some of them, have the potential for primary prevention.
The Facilitator’s guide contains what you, as a facilitator, need in order to lead participants through the course. It contains detailed instructions on how to conduct each session. This is your most essential tool as a facilitator.
Visit: http://apps.who.int/iris/bitstream...
National Human Genome Research Institute (NHGRI)
The NHGRI is a division of the National Institutes of Health (NIH). It was established to carry out the role of the NIH in the International Human Genome Project. The website contains online education toolkits, talking glossaries of genetic terms (which can also be downloaded as Apps), fact sheets, teaching resources, a genomic medicine lecture series as well as in depth information on the funding and planning of research activity.
Visit: https://www.genome.gov/
Geneva Foundation for Medical Education and Research
The Geneva Foundation for Medical Education and Research (GFMER) is a non-profit organization established in 2002. It is supported by the Republic and Canton of Geneva, the Department of Social Affairs of the City of Geneva and other Swiss and international institutions. The Foundation works in close collaboration with the World Health Organization (WHO). The overall objectives of the Foundation are to promote and develop health education and research programs.
Materials on the website include; power point presentations, links to free medical journals, guidelines and key papers, and training courses.
Congenital anomaly reporting guidelines of a number of national systems are given here.
Visit: http://www.gfmer.ch/000_Homepage_En.htm
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.
Visit: http://tephinet.org/zika-curriculum
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.
World Health Organisation (WHO) congenital anomalies
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.
Visit: http://www.who.int/topics/congenital_anomalies/en/
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.
Visit: www.worldbirthdefectsday.org
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.
Visit: http://www.searo.who.int/entity/child_adolescent/documents/sea_cah_12/en/
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.
Visit: http://www.icbdsr.org/resources/peace-tool/
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
Visit: https://www.ncbi.nlm.nih.gov/books/NBK222075/
Public Health Genomics Toolkit for Health Needs Assessment in Congenital Disorders
The 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.
Visit: http://toolkit.bornhealthy.org/index.htm
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.
Visit: http://www.who.int/nutrition/publications/guidelines/opt...
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
Visit: http://www.icbdsr.org/resources/the-story-of-folic-acid-fortification/
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.
Visit: http://www.ffinetwork.org/about/index.html
WHO toolkit for the care and support of people affected by complications associated with Zika virus
This toolkit has been developed to serve as a model guide, with the goal of enhancing country preparedness for Zika virus outbreaks. The toolkit is intended to provide a systems approach involving public health planners and managers so that the necessary infrastructure and resources can be identified and incorporated as needed, as well as technical and practical guidance for health care professionals and community workers.
The toolkit includes three manuals to provide countries with tools to effectively recognize people affected by Zika virus and deliver comprehensive care and support:
- Manual for public health planners and managers
- Manual for health care professionals
- Manual for community workers
Visit: http://www.who.int/mental_health/neurology/zika_toolkit/en/
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).
Visit: https://zikaplan.tghn.org/
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.
Visit: http://tephinet.org/zika-curriculum
Assessment of Microcephaly in Context of Zika Virus
A practical guide on the assessment of microcephaly with links to Intergrowth21 Standards and resources on Zika Virus infection.
Visit: http://www.searo.who.int/entity/child_adolescent/nbbd...
To understand and prevent birth defects and disorders of developmental and reproductive origin, 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.
Visit: https://www.teratology.org/
Paediatric cardiology services by telemedicine.
Caring for children with heart defects remains a challenge worldwide. In developing countries, diagnoses are often late due to the lack of screening programmes and trained personnel. The problem is worsened by limited availability of hospital beds and the remoteness of rural communities from main urban centres where paediatric cardiology specialists are available. Telemedicine is being successfully used to overcome some of these challenges, for example in NE Brazil.
Visit: http://www.who.int/bulletin/volumes/93/12/14-148874/en/
Global Paediatric Surgery Network
The Global Paediatric Surgery Network (GPSN) serves as a clearinghouse for volunteer work performed by pediatric surgeons around the world. In addition, there are extensive resources not only for pediatric surgeons in low- and middle-income countries, but for volunteer pediatric surgeons as well. Finally, the GPSN Collaborative is a group of pediatric surgeons working to improve the surgical care of children.
Visit: http://globalpaediatricsurgery.org/
Information on Congenital Anomalies written for parents
General information on a range of birth defects, presented in a user friendly style. Access to patient information leaflets and support groups.
Unique is an international charitable organisation that provides information and support for families affected by rare chromosomal disorders. As well as an extensive range of patient information leaflets, detailing the clinical phenotype, they also provide a support network for families and professionals involved with chromosomal disorders.
Visit: http://www.rarechromo.co.uk/html/home.asp
This website contains information written for parents on a number of birth defects and related illnesses. Some specific teratogen exposures are covered, such as Congenital Zika Syndrome and Congenital Syphilis. The site also provides information on genetic syndromes and metabolic disorders. Useful information about causation, prevention and treatment are covered within the topics.
Visit: http://www.marchofdimes.org/complications/birth-defects-and-health-conditions.aspx
Genetic disorders, craniofacial anomalies and birth defects. Children’s Hospital of Philadelphia.
This website contains information intended for the use of parents on a number of paediatric conditions. There is a section on Genetic Syndromes and Birth Defects which includes several leaflets on relatively common defects such as cleft lip and palate and limb defects. However, further information can be found in other sections such as Craniofacial Anomalies and Disorders.
Visit: http://www.chop.edu/conditions-diseases
EURORDIS is a non-governmental patient-driven alliance of patient organisations representing 761 rare disease patient organisations in 68 countries. The website contains patient vignettes and videos, information on orphan drugs, online training modules and information on international rare disease events.
Visit: http://www.eurordis.org/
The International Federation for Spina Bifida and Hydrocephalus
The International Federation for Spina Bifida and Hydrocephalus (IF) was founded by people with spina bifida and hydrocephalus (SBH) and their families in 1979 and now includes 60 member organisations in Africa, Australia, the Americas, Asia and Europe. PUSH! Global Alliance (http://www.pu-sh.org/global-report-cards) includes a wide range of global institutional stakeholders working together to accelerate spina bifida and hydrocephalus prevention, and to realize optimal care and a better quality of life for those affected.
Visit: https://www.ifglobal.org/
Shine provides specialist support from before birth and throughout the life of anyone living with spina bifida and/or hydrocephalus, as well as to parents, families, carers and professional care staff. Shine enables people to get the best out of life.
Visit: https://www.shinecharity.org.uk/
Smile Train is an international children’s charity with a sustainable approach to a single, solvable problem: cleft lip and palate. Millions of children in developing countries with untreated clefts live in isolation, but more importantly, have difficulty eating, breathing, hearing, and speaking. Cleft repair surgery is simple, and the transformation is immediate. The Smiletrain sustainable model provides training, funding, and resources to empower local doctors in 85+ developing countries to provide 100%-free cleft repair surgery and comprehensive cleft care in their own communities.
Visit: https://smiletrain.org.uk/our-cause
British Heart Foundation is a UK charity which fights cardiovascular disease, including congenital heart disease. It provides information on congenital heart defects for parents.
Visit: https://www.bhf.org.uk/heart-health/children-and-young-people/heart-conditions-in-babies
DysNet is a global network connecting anyone who is personally or professionally affected by congenital limb deficiency.
Visit: http://www.dysnet.org/
A safe, easy to use platform where rare disease patients, families and patient organizations can develop online communities and conversations across continents and languages. RareConnect partners with the world’s leading rare disease patient groups to offer global online communities allowing people to connect around issues which affect them while living with a rare disease.