Odenwald Birgit, Brockow Inken, Hanauer Marianne, Lüders Anja, Nennstiel Uta
Newborn Screening Centre/State Institute of Health, Bavarian Health and Food Safety Authority, 85764 Oberschleissheim, Germany.
Int J Neonatal Screen. 2023 Jun 22;9(3):35. doi: 10.3390/ijns9030035.
Newborn screening using dried blood spots (NBS) is widely acknowledged as a highly successful procedure in secondary prevention. For a number of congenital disorders, severe disability or death are impressively prevented by early detection and early treatment through NBS. However, as with any other screening, NBS can also cause harm, and the principle that "the overall benefits of screening should outweigh the harms" must be considered when introducing and implementing NBS programmes. This publication compiles the results of a systematic literature research on requirements for NBS infrastructure and procedures which was conducted as part of a research project on the quality and shortcomings of the NBS pathway in Germany. The compilation contains the requirements and recommendations for realising the principle of "maximise benefits and minimise harms" in relevant NBS pathway components such as parental education and information, coverage, timeliness, laboratory quality assurance, follow-up of abnormal results, confirmatory diagnostics, documentation, and evaluation. The results reflect the complexity of NBS infrastructure, and thus, they illustrate the importance of considering and implementing NBS as a well-coordinated public health programme with continuous quality management. Special attention should be paid to the perspectives of parents and families. Some NBS issues can substantially benefit from digital instruments or international cooperation. The literature review presented here has contributed to a concept of proposals for the advancement of NBS in Germany, and despite different settings, it may as well be of interest for other countries to achieve the best possible course and outcome of NBS for each child.
使用干血斑进行新生儿筛查（NBS）被广泛认为是二级预防中一项非常成功的举措。对于许多先天性疾病，通过NBS进行早期检测和早期治疗，能显著预防严重残疾或死亡。然而，与任何其他筛查一样，NBS也可能造成伤害，在引入和实施NBS项目时，必须考虑“筛查的总体益处应大于危害”这一原则。本出版物汇编了一项关于NBS基础设施和程序要求的系统文献研究结果，该研究是德国NBS流程质量与缺陷研究项目的一部分。汇编内容包含了在相关NBS流程组成部分中实现“最大程度获益和最小化危害”原则的要求和建议，这些组成部分包括家长教育与信息告知、覆盖范围、及时性、实验室质量保证、异常结果随访、确诊诊断、文档记录以及评估。研究结果反映了NBS基础设施的复杂性，因此，它们说明了将NBS作为一个协调良好且具备持续质量管理的公共卫生项目来考虑和实施的重要性。应特别关注家长和家庭的观点。一些NBS问题可从数字工具或国际合作中大幅受益。此处呈现的文献综述为德国NBS的推进提出了一系列建议概念，尽管情况各异，但对于其他国家而言，为每个孩子实现尽可能最佳的NBS流程和结果或许也具有参考价值。
