A Review Of Key Terminology And Definitions Used For Birth Defects Globally

Abstract

Birth defects, also known as congenital disorders, are a signifcant health issue impacting at least fve million births annually worldwide. For policymakers to mount a relevant healthcare response to care for those afected, the burden of disease of these conditions must be quantifed. Estimates of the contribution of birth defects to under-5 child mortality and morbidity are generated by several groups globally. These estimates often difer, causing confusion for policymakers. While some differences may be attributed to the data sources and methods used, much is due to a lack of clarity in the terminology used for the group of disorders classed as “congenital”. This study aimed to gain insight into the diversity of terms and defnitions for birth defects, including those used routinely by relevant international/national organisations and in the peer-reviewed literature. This two-part study included (1) scoping review of peer-reviewed literature to identify terms and defnitions in use for birth defects and (2) review of key websites and grey literature to identify terms and defnitions used. The results of this study indicate a wide variety of terms being used, often interchangeably and undefned, in peer-reviewed publications, on institutional websites and related literature. This suggests a lack of clarity related to terminology and sets the scene for further discussion, recommending that the community of practice working on birth defects comes to a consensus on standard terminology and defnitions for global uptake and implementation. Such standardisation will facilitate a common understanding of the burden of these disorders globally, regionally and within countries so that action can be taken to support afected children and their families