Center for Pediatric and Adolescent Medicine, Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.
Screening Center, Bavarian Health and Food Safety Authority (LGL), Veterinaerstrasse 2, 85764, Oberschleissheim, Germany.
Eur J Pediatr. 2021 Apr;180(4):1145-1155. doi: 10.1007/s00431-020-03849-4. Epub 2020 Oct 26.
Newborn screening for cystic fibrosis (CF-NBS) was introduced in Germany in 2016. Currently, systematic follow-up of positive CF-NBS results is not implemented or reimbursed in the NBS program. We investigated results of confirmatory testing over 24 months after implementation of CF-NBS for a large German NBS center before and after introduction of an active tracking system and performed a cost calculation for tracking. Results are compared with the federal state of Bavaria, where a centralized tracking system has been in place for many years. At the NBS center, 244 of 281,907 children had a positive CF-NBS result requiring diagnostic confirmation. Before implementation of a telephone tracking system, only 43% of confirmatory results were returned despite repeated written requests. The consecutive strategy including telephone tracking led to an increase of resolved cases to 84%. However, the centralized tracking system in Bavaria, assigning children with positive CF-NBS directly to a responsible CF-center, resolved 99% of cases. The calculated additional cost for a tracking system in Germany including telephone tracking is 1.20€ per newborn screened.Conclusion: The implementation of a tracking system achieves a distinct improvement in CF-NBS with justifiable costs. The effect can be limited by absence of centralized organization of confirmatory testing. What is Known: • Newborn screening for cystic fibrosis (CF-NBS) has been performed for many years in several countries worldwide • While many studies have focused on different CF-NBS strategies, the organization of confirmatory testing and process quality concerning returned information to the NBS center has so far received less attention. What is New: • The implementation of an active tracking system achieves a distinct improvement of clarified cases after positive CF-NBS with justifiable costs. • The effect of a tracking system can be limited by the absence of a centralized organization of confirmatory testing.
新生儿囊性纤维化（CF-NBS）筛查于 2016 年在德国引入。目前，在 NBS 计划中，并未实施或报销阳性 CF-NBS 结果的系统随访。我们调查了在 CF-NBS 实施 24 个月后，一家德国大型 NBS 中心在引入主动跟踪系统前后的确认检测结果，并对跟踪进行了成本计算。结果与联邦州巴伐利亚进行了比较，巴伐利亚多年来一直采用集中式跟踪系统。在 NBS 中心，281907 名儿童中有 244 名 CF-NBS 阳性结果需要进行诊断确认。在实施电话跟踪系统之前，尽管多次书面请求，但只有 43%的确认结果返回。包括电话跟踪的连续策略导致已解决病例增加到 84%。然而，巴伐利亚的集中式跟踪系统将 CF-NBS 阳性的儿童直接分配给负责的 CF 中心，解决了 99%的病例。计算出德国包括电话跟踪在内的跟踪系统的额外成本为每个筛查新生儿 1.20 欧元。结论：跟踪系统的实施以合理的成本显著改善了 CF-NBS。确认检测的集中组织缺失会限制其效果。已知：• 全球许多国家多年来一直在进行囊性纤维化（CF-NBS）新生儿筛查。• 尽管许多研究都集中在不同的 CF-NBS 策略上，但迄今为止，确认检测的组织和有关返回给 NBS 中心的信息的过程质量受到的关注较少。新内容：• 主动跟踪系统的实施以合理的成本显著改善了 CF-NBS 阳性后明确病例的数量。• 跟踪系统的效果可能受到缺乏确认检测的集中组织的限制。
