Martens Rosalie C, Boelen Anita, van der Kemp Michèle H, Bosch Annet M, Berghout Eveline M, Weijman Gert, Zwaveling-Soonawala Nitash, Verschoof-Puite Rendelien K, de Jonge Robert, Hannema Sabine E, Bosmans Judith E, Heijboer Annemieke C
Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam University Medical Centers, Location University of Amsterdam, 1105 AZ Amsterdam, The Netherlands.
Endocrine Laboratory, Department of Laboratory Medicine, Amsterdam University Medical Centers, Location Vrije Universiteit Amsterdam, 1081 HV Amsterdam, The Netherlands.
Int J Neonatal Screen. 2024 Oct 8;10(4):70. doi: 10.3390/ijns10040070.
Inconclusive and false-positive newborn screening (NBS) results can cause parental stress and increase healthcare expenditures. These results can be reduced by improving NBS algorithms. This was recently done for Congenital Hypothyroidism (CH), Congenital Adrenal Hyperplasia (CAH) and Maple Syrup Urine Disease (MSUD) in the Dutch NBS program. The current study estimates the financial consequences of these improved algorithms related to the reduction in inconclusive results and false-positives. For each improved algorithm, the care pathway of an inconclusive/false-positive result was analyzed. The costs associated with the improvements, based on the change in inconclusive results/false-positives, were assessed to estimate the cost reduction per year. The improvements resulted in a reduction of inconclusive results and/or false-positives, without increasing false-negatives. For CH, false positives decreased by 26 per year with a related cost reduction of EUR 31,156. For CAH, 95 second heel punctures and seven false-positives per year were avoided, leading to a related cost reduction of EUR 7340. For MSUD, five false-positives per year were avoided with a related cost reduction of EUR 11,336. The improved screening algorithms led to a cost reduction of EUR 49,832 annually. Together with the known negative psychosocial effects associated with an inconclusive or false-positive NBS result, these results highlight the importance of improving NBS algorithms.
新生儿筛查（NBS）结果不确定及假阳性会给家长带来压力，并增加医疗支出。通过改进NBS算法可减少这些结果。荷兰NBS项目最近针对先天性甲状腺功能减退症（CH）、先天性肾上腺皮质增生症（CAH）和枫糖尿症（MSUD）进行了此项改进。本研究估计了这些改进算法在减少不确定结果和假阳性方面的财务影响。对于每种改进算法，分析了不确定/假阳性结果的诊疗路径。根据不确定结果/假阳性的变化评估与改进相关的成本，以估计每年的成本降低情况。这些改进减少了不确定结果和/或假阳性，且未增加假阴性。对于CH，每年假阳性减少26例，相关成本降低31,156欧元。对于CAH，每年避免了95次第二次足跟采血和7例假阳性，相关成本降低7340欧元。对于MSUD，每年避免5例假阳性，相关成本降低11,336欧元。改进后的筛查算法每年可降低成本49,832欧元。连同已知的与NBS结果不确定或假阳性相关的负面心理社会影响，这些结果凸显了改进NBS算法的重要性。
