Ferraro Simona, Lucchi Simona, Montanari Chiara, Magnani Letizia, Tosi Martina, Biganzoli Davide, Lugotti Andrea, Cappelletti Laura, Poli Alessia, Pratiffi Elisa, Carelli Stephana, Saielli Laura, Alberti Luisella, Zuccotti Gianvincenzo, Marsilio Marta, Verduci Elvira, Cereda Cristina
Center of Functional Genomics and Rare Diseases, Buzzi Children's Hospital, Milan, Italy.
Department of Pediatrics, Buzzi Children's Hospital, Milan, Italy.
Clin Chem Lab Med. 2024 Oct 3;63(3):559-571. doi: 10.1515/cclm-2024-0692. Print 2025 Feb 25.
The identification of vitamin B12 (B12) deficiency in the newborn may prevent neurological damage and a delay in the normal growth. In this study we characterized the incidence of B12 deficiency in newborns, the costs associated to the clinical diagnosis and management, and the relevance to optimize the use of cobalamin biomarkers during treatment follow-up.
Starting from a continuous case series of 146,470 screened newborns (November, 1st 2021- December, 3rd 2023), the Regional Reference Laboratory for Neonatal Screening identified 87 newborns having altered levels of biomarkers of cobalamin metabolism measured by newborn screening. These subjects were confirmed with a nutritional B12 deficiency of maternal origin by performing the serum B12 measurements and plasma homocysteine (Hcy) both on the newborns and respective mothers. A cost analysis was performed to characterize the costs/year of identifying and managing B12 deficiency cases.
At baseline, median (interquartile range) serum B12 levels of 185.0 (142.3-246.0) ng/L and threefold increased plasma Hcy concentrations above the normal level confirmed a severe condition of deficiency in the newborns. After intramuscular B12 supplementation, serum B12 measured at the first follow up visit showed a fivefold increase, and the levels of Hcy returned to normal. From the healthcare perspective, the costs for diagnosing and managing all newborns with B12 deficiency is 188,480 €/year.
Preventing B12 depletion in newborns lowers healthcare costs and likely improves their health outcomes. Further studies are however required to address the clinical pathway to identify, treat and monitor pregnant women with marginal and low B12 status, in order to achieve these goals.
识别新生儿维生素B12（B12）缺乏症可预防神经损伤和正常生长发育延迟。在本研究中，我们对新生儿B12缺乏症的发生率、临床诊断和管理的相关成本，以及在治疗随访期间优化钴胺素生物标志物使用的相关性进行了描述。
从连续的146470例筛查新生儿病例系列（2021年11月1日至2023年12月3日）开始，新生儿筛查区域参考实验室确定了87例通过新生儿筛查测定的钴胺素代谢生物标志物水平异常的新生儿。通过对新生儿及其各自母亲进行血清B12测量和血浆同型半胱氨酸（Hcy）检测，证实这些受试者存在母体来源的营养性B12缺乏。进行了成本分析，以描述识别和管理B12缺乏症病例的年度成本。
在基线时，血清B12水平中位数（四分位间距）为185.0（142.3 - 246.0）ng/L，血浆Hcy浓度比正常水平高出三倍，证实新生儿存在严重缺乏状况。肌肉注射B12补充后，首次随访时测得的血清B12增加了五倍，Hcy水平恢复正常。从医疗保健角度来看，诊断和管理所有B12缺乏新生儿的成本为每年188,480欧元。
预防新生儿B12缺乏可降低医疗保健成本，并可能改善他们的健康结局。然而，为实现这些目标，还需要进一步研究以确定识别、治疗和监测边缘性和低B12状态孕妇的临床路径。
