Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency
Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency
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DOI：
10.1007/s10545-010-9103-9
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发表时间：
2010-10-01
影响因子：
4.2
通讯作者：
Eaton, Roger B.
中科院分区：
文献类型：
--
作者：
Comeau, Anne Marie;Hale, Jaime E.;Eaton, Roger B.
严重联合免疫缺陷（SCID）是一种原发性免疫缺陷，许多NBS项目正在考虑将其纳入基于人群的新生儿筛查（NBS），并且最近被推荐纳入美国新生儿筛查条件统一小组。作为SCID的标志物，T细胞受体切除环（TREC）可以在新生儿干血斑中检测到，使用一种独特的分子检测作为主要筛查。新英格兰新生儿筛查项目开发并验证了一种多重TREC分析方法，在这种方法中，TREC分析物和内部对照物都是在一次冲孔中获得的，并在同一反应中运行。马萨诸塞州随后在全州范围内实施了SCID NBS试点项目。作者描述了SCID NBS试点项目的基本原理，成功实施的综合策略，筛选测试算法，筛选随访算法以及基于第一年全州筛查的初步经验。马萨诸塞州的经验表明，SCID NBS是一个可以在人口基础上以合理的假阳性率实施的项目。
Severe combined immunodeficiency (SCID) is a Primary Immune Deficiency that is under consideration for population-based newborn screening (NBS) by many NBS programs, and has recently been recommended for inclusion in the US uniform panel of newborn screening conditions. A marker of SCID, the T cell receptor excision circle (TREC), is detectable in the newborn dried blood spot using a unique molecular assay as a primary screen. The New England Newborn Screening Program developed and validated a multiplex TREC assay in which both the TREC analyte and an internal control are acquired from a single punch and run in the same reaction. Massachusetts then implemented a statewide pilot SCID NBS program. The authors describe the rationale for a pilot SCID NBS program, a comprehensive strategy for successful implementation, the screening test algorithm, the screening follow-up algorithm and preliminary experience based on statewide screening in the first year. The Massachusetts experience demonstrates that SCID NBS is a program that can be implemented on a population basis with reasonable rates of false positives.