Divisions of Child Neurology and Metabolic Medicine.
German Paediatric Surveillance Unit (GPSU), Division of Paediatric Epidemiology, Institute of Medical Biostatistics, Epidemiology and Informatics, University Medical Centre of the Johannes Gutenberg-University, Mainz, Germany.
Pediatrics. 2024 Aug 1;154(2). doi: 10.1542/peds.2023-064809.
Vitamin B12 deficiency (VitB12D) might cause neuro-developmental impairment in the first year of life. Newborn screening (NBS) for VitB12D was shown to be technically feasible and early treated infants developed favorably. This study aims to evaluate the impact of NBS in prevention of symptomatic infantile VitB12D.
In a nationwide surveillance study in cooperation with the German Pediatric Surveillance Unit, incident cases with VitB12D (<12 months of age) were prospectively collected from 2021 to 2022.
In total, 61 cases of VitB12D reported to German Pediatric Surveillance Unit were analyzed, either identified by NBS (N = 31) or diagnosed after the onset of suggestive symptoms (non-NBS; N = 30). Ninety percent of the infants identified by NBS were still asymptomatic, whereas the non-NBS cohort presented at median 4 month of age with muscular hypotonia (68%), anemia (58%), developmental delay (44%), microcephalia (30%), and seizures (12%). Noteworthy, symptomatically diagnosed VitB12D in the first year of life was reported 4 times more frequently in infants who did not receive NBS for neonatal VitB12D (14 in 584 800) compared with those screened for VitB12D as newborns (4 in 688 200; Fisher's Exact Test, odds ratio 4.12 [95% confidence interval: 1.29-17.18], P = .008). The estimated overall cumulative incidence was 1:9600 newborns per year for neonatal VitB12D and 1:17 500 for symptomatic infantile VitB12D.
NBS for neonatal VitB12D may lead to a fourfold risk reduction of developing symptomatic VitB12D in the first year of life compared with infants without NBS.
维生素 B12 缺乏症（VitB12D）可能导致生命的第一年出现神经发育障碍。新生儿筛查（NBS）已证明 VitB12D 具有技术可行性，且早期接受治疗的婴儿预后良好。本研究旨在评估 NBS 在预防婴儿期症状性 VitB12D 中的作用。
在与德国儿科监测单位合作的全国性监测研究中，从 2021 年至 2022 年，前瞻性地收集了 VitB12D（<12 个月）的发病病例。
共有 61 例 VitB12D 病例报告给德国儿科监测单位，其中 31 例通过 NBS 发现，30 例在出现提示症状后诊断。通过 NBS 发现的婴儿中 90%仍无症状，而非 NBS 组在中位 4 月龄时出现肌肉张力减退（68%）、贫血（58%）、发育迟缓（44%）、小头畸形（30%）和癫痫发作（12%）。值得注意的是，未接受新生儿 VitB12D NBS 的婴儿在生命的第一年中出现症状性 VitB12D 的报告频率是接受 NBS 筛查的婴儿的 4 倍（584800 例中有 14 例，688200 例中有 4 例；Fisher 精确检验，比值比 4.12[95%置信区间：1.29-17.18]，P =.008）。新生儿 VitB12D 的总体累积发病率估计为每年每 9600 名新生儿中有 1 例，而症状性婴儿 VitB12D 的发病率估计为每年每 17500 名新生儿中有 1 例。
与未接受 NBS 的婴儿相比，新生儿 VitB12D 的 NBS 可能使生命的第一年出现症状性 VitB12D 的风险降低 4 倍。
