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

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 evidence-based country, regional and global estimates of the birth prevalence and outcomes of congenital disorders.

Keywords: Congenital anomalies; Congenital disorders; Disability; Genetic disorders; Mortality; Rare diseases epidemiology.

Fig. 1

The main groups of congenital disorders. The image is notional: there is no relation between frequency and the size of the circles, or actual extent of overlap between categories. MGDb currently includes only the groups whose birth prevalence is relatively constant or can be calculated, namely chromosomal disorders, early-onset congenital malformations, single-gene disorders and two examples of common early-onset disorders due to genetic risk factors—rhesus haemolytic disease and neonatal jaundice due to glucose-6-phosphate dehydrogenase deficiency.