Historical overview of development in methods to estimate burden of disease due to congenital disorders.

Congenital disorders (often also called birth defects) are an important cause of mortality and disability. They encompass a wide range of disorders with differing severity that can affect any aspect of structure or function. Understanding their epidemiology is important in developing appropriate services both for their prevention and treatment. The need for epidemiological data on congenital disorders has been recognised for many decades. Here, we provide a historical overview of work that has led to the development of the Modell Global Database of Congenital Disorders (MGDb)-a tool that can be used to generate evidence-based country, regional and global estimates of the birth prevalence and outcomes of congenital disorders

Estimates of global and regional prevalence of neural tube defects for 2015: a systematic analysis.

Neural tube defects (NTDs) are associated with substantial mortality, morbidity, disability, and psychological and economic costs. Many are preventable with folic acid, and access to appropriate services for those affected can improve survival and quality of life. We used a compartmental model to estimate global and regional birth prevalence of NTDs (live births, stillbirths, and elective terminations of pregnancy) and subsequent under-5 mortality. Data were identified through web-based reviews of birth defect registry databases and systematic literature reviews. Meta-analyses were undertaken where appropriate. For 2015, our model estimated 260,100 (uncertainty interval (UI): 213,800-322,000) NTD-affected birth outcomes worldwide (prevalence 18.6 (15.3-23.0)/10,000 live births). Approximately 50% of cases were elective terminations of pregnancy for fetal anomalies (UI: 59,300 (47,900-74,500)) or stillbirths (57,800 (UI: 35,000-88,600)). Of NTD-affected live births, 117,900 (∼75%) (UI: 105,500-186,600) resulted in under-5 deaths. Our systematic review showed a paucity of high-quality data in the regions of the world with the highest burden. Despite knowledge about prevention, NTDs remain highly prevalent worldwide. Lack of surveillance and incomplete ascertainment of affected pregnancies make NTDs invisible to policy makers. Improved surveillance of all adverse outcomes is needed to improve the robustness of total NTD prevalence estimation, evaluate effectiveness of prevention through folic acid fortification, and improve outcomes through care and rehabilitation

Estimating the birth prevalence and pregnancy outcomes of congenital malformations worldwide

Congenital anomaly registries have two main surveillance aims: firstly to define baseline epidemiology of important congenital anomalies to facilitate programme, policy and resource planning, and secondly to identify clusters of cases and any other epidemiological changes that could give early warning of environmental or infectious hazards. However, setting up a sustainable registry and surveillance system is resource-intensive requiring national infrastructure for recording all cases and diagnostic facilities to identify those malformations that that are not externally visible. Consequently, not all countries have yet established robust surveillance systems. For these countries, methods are needed to generate estimates of prevalence of these disorders which can act as a starting point for assessing disease burden and service implications. Here, we describe how registry data from high-income settings can be used for generating reference rates that can be used as provisional estimates for countries with little or no observational data on non-syndromic congenital malformations

Global epidemiology of haemoglobin disorders and derived service indicators

To demonstrate a method for using genetic epidemiological data to assess the needs for equitable and cost-effective services for the treatment and prevention of haemoglobin disorders. We obtained data on demographics and prevalence of gene variants responsible for haemoglobin disorders from online databases, reference resources, and published articles. A global epidemiological database for haemoglobin disorders by country was established, including five practical service indicators to express the needs for care (indicator 1) and prevention (indicators 2-5). Haemoglobin disorders present a significant health problem in 71% of 229 countries, and these 71% of countries include 89% of all births worldwide. Over 330 000 affected infants are born annually (83% sickle cell disorders, 17% thalassaemias). Haemoglobin disorders account for about 3.4% of deaths in children less than 5 years of age. Globally, around 7% of pregnant women carry b or a zero thalassaemia, or haemoglobin S, C, D Punjab or E, and over 1% of couples are at risk. Carriers and at-risk couples should be informed of their risk and the options for reducing it. Screening for haemoglobin disorders should form part of basic health services in most countries

The CHIME Graduate Programme in Health Informatics Background to the Programme: Health Informatics in the UK

Abstract I

Epidemiological Methods in Community Genetics and the Modell Global Database of Congenital Disorders (MGDb)

The Articles and Annexes contained within this document constitute the most fine-grained description of the methods and approaches devised in the course of a large collaborative exercise since the 1980s to make estimates of the epidemiology and associated health burden of congenital disorders. The work began at a scientific meeting at WHO Headquarters in Geneva, and has continued in various forms ever since, with input from more individuals than it is possible to acknowledge via the conventional methods of shared authorship. This document is a work in progress, and so its various portions are under development, in the course of which they have been shared with members of the international collaborative group. As the component texts reach the requisite level of maturity, will be added to this document to enable wider consultation with the global community of interested parties. Earlier access to some or all of the texts may be possible – contact [email protected] and [email protected] to discuss this

Epidemiological Methods in Community Genetics and the Modell Global Database of Congenital Disorders (MGDb)

The Articles and Annexes contained within this document constitute the most fine-grained description of the methods and approaches devised in the course of a large collaborative exercise since the 1980s to make estimates of the epidemiology and associated health burden of congenital disorders. The work began at a scientific meeting at WHO Headquarters in Geneva, and has continued in various forms ever since, with input from more individuals than it is possible to acknowledge via the conventional methods of shared authorship. This document is a work in progress, and so its various portions are under development, in the course of which they have been shared with members of the international collaborative group. As the component texts reach the requisite level of maturity, will be added to this document to enable wider consultation with the global community of interested parties. Earlier access to some or all of the texts may be possible – contact [email protected] and [email protected] to discuss this