Historical overview of development in methods to estimate burden of disease due to congenital disorders
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ORIGINAL ARTICLE
Historical overview of development in methods to estimate burden of disease due to congenital disorders Bernadette Modell 1 & Matthew W Darlison 1
&
Joy E Lawn 2
Received: 6 March 2018 / Accepted: 23 August 2018 / Published online: 12 September 2018 # The Author(s) 2018
Abstract 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 evidencebased country, regional and global estimates of the birth prevalence and outcomes of congenital disorders. Keywords Congenital disorders . Congenital anomalies . Genetic disorders . Rare diseases epidemiology . Mortality . Disability
Historical background 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. The need for epidemiological data on congenital disorders was recognised in the aftermath of the Second World War, when the United Nations Scientific Committee on the Effects of Atomic Radiation (UNSCEAR) was established Bto collect and evaluate information on the levels and effects of exposure to ionizing radiation^ (United Nations Scientific Committee on the Effects of Atomic Radiation 1977; United Nations Scientific Committee on the Effects of Atomic Radiation 1982; United Nations Scientific Committee on the Effects of Atomic Radiation 1986). Accordingly, meticulous controlled studies on the prevalence of congenital disorders in the populations of Hiroshima and Nagasaki were conducted on the assumption This is part of the SI on Methods in Community Genetics * Matthew W Darlison [email protected] 1
WHO Collaborating Centre for Community Genetics, Centre for Health Informatics and Multiprofessional Education (CHIME), University College London, London, UK
2
London School of Hygiene & Tropical Medicine, London, UK
that an increased mutation rate would manifest as an increased birth prevalence of affected children (Schull 1958; Schull 2003; Schull et al. 1981). At the same time, a combination of increasing technical diagnostic ability, the observed effects of rubella infection, and the thalidomide disaster of the 1960s led to increased recognition of the contribution of congenital disorders to early death and disability, the potential power of interventions and the need for ongoing surveillance. Accordingly, the World Health Organization encouraged epidemiological studies, the development of congenital anomaly registries and the
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