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.
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.
Chromosomal disorders, of which Down syndrome is the most common, can cause multi-domain disability. In addition, compared to the general population, there is a higher frequency of death before the ...age of five. In many settings, large gaps in data availability have hampered policy-making, programme priorities and resource allocation for these important conditions. We have developed methods, which overcome this lack of data and allow estimation of the burden of affected pregnancies and their outcomes in different settings worldwide. For example, the methods include a simple equation relating the percentage of mothers 35 and over to Down syndrome birth prevalence. The results obtained provide a starting point for consideration of services that can be implemented for the care and prevention of these disorders.
Congenital disorders are an important cause of pregnancy loss, premature death and life-long disability. A range of interventions can greatly reduce their burden, but the absence of local ...epidemiological data on their prevalence and the impact of interventions impede policy and service development in many countries. In an attempt to overcome these deficiencies, we have developed a tool—The Modell Global Database of Congenital Disorders (MGDb) that combines general biological principles and available observational data with demographic data, to generate estimates of the birth prevalence and effects of interventions on mortality and disability due to congenital disorders. MGDb aims to support policy development by generating country, regional and global epidemiological estimates. Here we provide an overview of the concepts and methodological approach used to develop MGDb.
The contribution is multifaceted: updating the literature review to 2010; applying a rigorous method including use of the global rural urban mapping project (GRUMP); and publication of results in a ...prestigious journal, which highlights the position of sickle-cell disorders as a global health concern.4 Although the coverage is currently limited to HbS, its extension, in time, to other alleles that interact with HbS to cause sickle-cell disorders (principally haemoglobin C and β-thalassaemias) will greatly enrich the outputs. ...the similarity of the estimates for 2010-15 by Piel and colleagues conceals substantial regional differences--for example, we estimate more births in Africa and fewer in India. Since our starting points are similar, differences in the results must reflect differences in the methods used.
Congenital disorders (CD) remain an unprioritized health care issue in South Africa with national surveillance underreporting by > 95%. This lack of empiric data contributes to an underestimation of ...the CD disease burden, resulting in a lack of services for those affected. Modelling offers estimated figures for policymakers to plan services until surveillance is improved. This study applied the Modell Global Database (MGDb) method to quantify the South African CD disease burden in 2012. The MGDb combines birth prevalence data from well-established registries with local demographic data to generate national baseline estimates (birth prevalence and outcomes) for specific early-onset, endogenous CDs. The MGBd was adapted with local South African demographic data to generate baseline (no care) and current care national and provincial estimates for a sub-set of early-onset endogenous CDs. Access to care/impact of interventions was quantified using the infant mortality rate as proxy. With available care in 2012, baseline birth prevalence (27.56 per 1000 live births,
n
= 32,190) decreased by 7% with 2130 less affected births, with 5400 (17%) less under-5 CD-related deaths and 3530 (11%) more survivors at 5 years, including 4720 (15%) effectively cured and 1190 (4%) less living with disability. Results indicate a higher proportion of CD-affected births than currently indicated by national surveillance. By offering evidence-based estimates, the MGDb may be considered a tool for policymakers until accurate empiric data becomes available. Further work is needed on key CD groups and costing of specific interventions.
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.
We present the first public openEHR archetypes and templates for physiotherapy, and the context of multidisciplinary academic-industry partnership that has enabled their production by a team led by a ...clinically trained student on the UCL health informatics MSc programme.
In the absence of intervention, early-onset congenital disorders lead to pregnancy loss, early death, or disability. Currently, lack of epidemiological data from many settings limits the ...understanding of the burden of these conditions, thus impeding health planning, policy-making, and commensurate resource allocation. The Modell Global Database of Congenital Disorders (MGDb) seeks to meet this need by combining general biological principles with observational and demographic data, to generate estimates of the burden of congenital disorders. A range of interventions along the life course can modify adverse outcomes associated with congenital disorders. Hence, access to and quality of services available for the prevention and care of congenital disorders affects both their birth prevalence and the outcomes for affected individuals. Information on this is therefore important to enable burden estimates for settings with limited observational data, but is lacking from many settings. This paper, the third in this special issue on methods used in the MGDb for estimating the global burden of congenital disorders, describes key interventions that impact on outcomes of congenital disorders and methods used to estimate their coverage where empirical data are not available.
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