通过新生儿筛查检测细胞内维生素B12活性降低的益处仍不明确。

The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear.

作者信息

Knöpfli Stella, Goeschl Bernadette, Zeyda Maximilian, Baghdasaryan Anna, Baumgartner-Kaut Margot, Baumgartner Matthias R, Herle Marion, Margreitter Julian, Poms Martin, Wortmann Saskia B, Konstantopoulou Vassiliki, Huemer Martina

机构信息

Division of Metabolism and Children's Research Center, University Children's Hospital of Zurich, University of Zurich, 8032 Zurich, Switzerland.

Department of Pediatrics and Adolescent Medicine, Division of Pediatric Pulmonology, Allergology and Endocrinology, Austrian Newborn Screening, Medical University of Vienna, 1090 Vienna, Austria.

出版信息

Int J Neonatal Screen. 2024 Jun 18;10(2):40. doi: 10.3390/ijns10020040.

DOI:10.3390/ijns10020040

PMID:38920847

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11203543/

Abstract

Vitamin B12 (B12) deficiency (B12D) can have detrimental effects on early growth and development. The Austrian newborn screening (NBS) program targets inborn errors of cobalamin metabolism and also detects B12D. Of 59 included neonates with B12D suspected by NBS, B12D was not further investigated in 16 (27%) retrospectively identified cases, not confirmed in 28 (48%), and confirmed in 15 (25%) cases. NBS and recall biomarkers were recorded. Age at sampling of the dried blood spots for NBS and the 1st-tier methionine/phenylalanine ratio were the strongest parameters to predict B12D (67.4% correct allocations). No differences between cases with confirmed, unconfirmed, or unknown B12D or differences to norms were observed for growth and psychomotor development (Vineland III scales, phone interviews with parents of children between months 10 and 14 of life). B12 intake was below recommendations in most mothers. NBS can detect reduced intracellular B12 activity. No advantage of NBS detection and treatment regarding infant cognitive development or growth could be proven. Since conspicuous NBS findings cannot be ignored, and to prevent exposing newborns to invasive diagnostics, assessment of maternal B12 status during pregnancy seems advisable.

摘要

维生素B12（B12）缺乏症（B12D）会对早期生长发育产生不利影响。奥地利新生儿筛查（NBS）项目旨在筛查钴胺素代谢的先天性缺陷，同时也能检测出B12D。在纳入的59例被NBS怀疑患有B12D的新生儿中，16例（27%）回顾性确诊病例未进一步调查B12D，28例（48%）未得到证实，15例（25%）得到证实。记录了NBS和召回生物标志物。用于NBS的干血斑采样年龄和一级甲硫氨酸/苯丙氨酸比值是预测B12D的最强参数（正确分配率为67.4%）。在生长和精神运动发育方面（使用文兰适应性行为量表第三版，对10至14个月大儿童的父母进行电话访谈），确诊、未确诊或B12D情况不明的病例之间以及与正常标准之间均未观察到差异。大多数母亲的B12摄入量低于推荐水平。NBS能够检测出细胞内B12活性降低。尚未证明NBS检测和治疗对婴儿认知发育或生长有优势。由于NBS的明显异常结果不容忽视，且为防止新生儿接受侵入性诊断，在孕期评估母亲的B12状态似乎是可取的。