Malherbe H L, Modell B, Blencowe H, Strong K L, Aldous C
Centre for Human Metabolomics, North-West University, North-West Province, Potchefstroom, South Africa.
Rare Diseases South Africa NPC, The Station, 63 Peter Place, Bryanston, Johannesburg, 2021, Gauteng, South Africa.
J Community Genet. 2023 Jun;14(3):241-262. doi: 10.1007/s12687-023-00642-2. Epub 2023 Apr 24.
Birth defects, also known as congenital disorders, are a significant health issue impacting at least five million births annually worldwide. For policymakers to mount a relevant healthcare response to care for those affected, the burden of disease of these conditions must be quantified. Estimates of the contribution of birth defects to under-5 child mortality and morbidity are generated by several groups globally. These estimates often differ, 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 definitions 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 definitions in use for birth defects and (2) review of key websites and grey literature to identify terms and definitions used. The results of this study indicate a wide variety of terms being used, often interchangeably and undefined, 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 definitions 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 affected children and their families.
出生缺陷，也称为先天性疾病，是一个重大的健康问题，每年在全球至少影响五百万例出生。为了让政策制定者能够采取相关的医疗应对措施来照顾那些受影响的人，必须对这些疾病的疾病负担进行量化。全球有几个组织对出生缺陷对5岁以下儿童死亡率和发病率的影响进行了估计。这些估计往往存在差异，给政策制定者带来了困惑。虽然一些差异可能归因于所使用的数据来源和方法，但很大程度上是由于被归类为“先天性”的疾病组所使用的术语缺乏清晰度。本研究旨在深入了解出生缺陷的术语和定义的多样性，包括相关国际/国家组织和同行评审文献中经常使用的术语和定义。这项分为两部分的研究包括：（1）对同行评审文献进行范围审查，以确定用于出生缺陷的术语和定义；（2）审查关键网站和灰色文献，以确定所使用的术语和定义。本研究的结果表明，在同行评审出版物、机构网站和相关文献中，使用了各种各样的术语，这些术语往往可以互换使用且未定义。这表明在术语方面缺乏清晰度，并为进一步讨论奠定了基础，建议从事出生缺陷研究的实践社区就全球采用和实施的标准术语和定义达成共识。这种标准化将促进全球、区域和国家内部对这些疾病负担的共同理解，以便能够采取行动支持受影响的儿童及其家庭。
