International Classification of Disease v10. Chapter XVII. With RCPCH extension
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.
ICD v10 Chapter XVII with RCPCH extension
Training: ICD-10 Training Tool
Note that ICDv11 has recently been released but is not yet in general use. See ICD-11 diagnosis — 20 Developmental anomalies
WHO Congenital Anomaly Surveillance Manuals
WHO/CDC/ICBDSR Quick Reference Handbook of Selected Congenital Anomalies and Infection
This handbook 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 handbook 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 to identify birth defects.
Birth Defects Surveillance: A manual for programme managers, 2nd Edition
This WHO 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.
Facilitator’s Guide: https://media.tghn.org/medialibrary/2020/02/WHO_BirthDefectsSurveillanceTraining_eng_B2AwdO5.pdf
Global Birth Defects App
The Global Birth Defects Description and Coding (GBDDC) App, a freely available app found on Google Play and the App Store, is for use in areas where local expertise in congenital anomaly diagnosis is scarce. The purpose of the App is to improve the description and coding of major externally visible congenital anomalies for surveillance and research.
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.
EUROCAT Manuals.
EUROCAT has developed a series of manuals for registration and coding of congenital anomalies.
European Surveillance of Congenital Anomalies (EUROCAT): EUROCAT Guide 1.5 Guidelines for Registration
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.
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.
EUROCAT Data Management Software (DMS)
The EUROCAT Data Management Software (DMS) is a specially designed program for European surveillance of congenital anomalies. The program is available for all full, associate and affiliate EUROCAT member registries. All users must conform to EUROCAT guidelines and instructions for transmitting data (EUROCAT Guide 1.5).
Use of the DMS is also authorized for congenital anomaly registries that are not members of the EUROCAT network, if the data are collected or transformed according to the EUROCAT specifications. To request access to the DMS please contact the Central Registry at JRC-EUROCAT@ec.europa.eu. The EUROCAT DMS has many features which enable effective epidemiological surveillance including:
- Database management functions such as data validation and duplicate case checking. Users can input or import data.
- Reporting prevalence rates of congenital anomalies.
- Statistical monitoring of clusters and time trends.
The report function creates output tables/reports presenting prevalence rates for EUROCAT congenital anomaly subgroups both including chromosomal anomalies and excluding chromosomal anomalies or for user-defined congenital anomaly subgroups. Minor anomalies are excluded. Depending on the type of table selected, users can obtain total prevalence (livebirth, fetal death, termination of pregnancy), birth prevalence (livebirth, fetal death) or livebirth prevalence for the specified congenital anomaly and time period.
Statistical monitoring methodology is explained in the EUROCAT Statistical Monitoring Protocol.
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.
Paper 3: EUROCAT data quality indicators for population-based registries of congenital anomalies
EUROCAT Guide 3 For the Description and Classification of Congenital Limb Defects
This EUROCAT guide was used in 2004 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, sub-classification, and useful illustrations.
ICBDSR: PreSurv Suite
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.
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:
- The newborn exam (focus on congenital anomalies)
- Selected major birth defects: from embryology to surveillance and prevention
- Congenital infections as teratogens
- Teratogenic medications and exposures
- Short course on microcephaly (clinical evaluation, neuroimaging, genetics, surveillance) including basic elements of Zika assessment and response
WHO-TDR: Protocol for a drugs exposure pregnancy registry for implementation in resource-limited settings
A protocol 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. 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.
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.
Ubomi Buhle Training Lessons
UBOMI BUHLE is a project in South Africa aimed at improving our understanding of what exposures during pregnancy, such as medicines, substances and diseases, can result in poor birth outcomes e.g. birth defects, low birth weight, stillbirth, premature birth and neonatal death. At the same time, the project aims at health system strengthening. A set of training lessons (powerpoint slides) cover the following:
Training Module 1 - Introduction to UBOMI BUHLE
Training Module 2 - How to take an accurate pregnancy exposure history and complete the MCR
Training Module 3 - Safer prescribing in pregnancy and common teratogenic medications
Training Module 4 - Methods of gestational dating
Training Module 5 - Congenital anomalies
Training Module 6 - How to examine a newborn or stillborn baby and record in the MCR
Training Module 7 - Introduction to counselling and bereavement support & Self care for carers
Training Module 8 - Global Birth Defects App: UBOMI BUHLE version
Midwife Training Lessons | Ubomi Buhle Project
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.
Congenital Anomaly Surveillance in Brazil
An extensive set of manuals regarding diagnosis and surveillance of congenital anomalies, in Portuguese and English.
Congenital Anomalies - Integrated Health Surveillance Platform - Ministry of Health (saude.gov.br)
SEARO-NBBD Hospital Based Birth Defects Surveillance Manual
Regional Office for South-East Asia, World Health Organization. (2016). Hospital-based birth defects surveillance: facilitator guide. View and/or download the manuals here.
https://iris.who.int/bitstream/handle/10665/246206/9789290225119-eng.pdf?sequence=1&isAllowed=y
https://media.tghn.org/medialibrary/2020/02/WHO_HospitalBased_BDsurveillance_guide.pdf
ConcePTION Core evidence elements
ConcePTION Core evidence elements for generating medication safety evidence for pregnancy using population-based data contains extensive guidance on Congenital Anomalies is available here.
National Birth Defects Prevention Network Surveillance Guidelines (USA)
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.
WHO-recommended surveillance standards of rubella and congenital rubella syndrome
WHO provides a downloadable PDF for the surveillance standards of rubella and congenital rubella syndrome. Congenital rubella syndrome (CRS) is associated with various birth defects including heart disease, blindness, deafness and mental retardation.
WHO- Methods for surveillance and monitoring of Congenital syphilis elimination within existing systems
Methods for surveillance and monitoring of congenital syphilis elimination within existing systems
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, et al; 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)
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.
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.