Statewide Newborn Screening for Severe T-Cell Lymphopenia
Statewide Newborn Screening for Severe T-Cell Lymphopenia
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DOI：
10.1001/jama.2009.1806
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发表时间：
2009-12-09
影响因子：
120.7
通讯作者：
Baker, Mei W.
中科院分区：
文献类型：
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作者：
Routes, John M.;Grossman, William J.;Baker, Mei W.
新生儿血液筛查（NBS）测试可以识别T细胞严重缺乏的婴儿，可能导致死亡率降低。目的探讨在全国范围内对NBS卡片上的干血点提取的DNA进行实时定量聚合酶链反应，定量测定t细胞受体切除环（TRECs）是否能检测婴儿t细胞淋巴细胞减少症。设计、设置和参与者2008年1月1日至12月31日期间，威斯康辛州卫生实验室对所有出生在威斯康辛州的婴儿进行了t细胞淋巴细胞减少症筛查，方法是定量测定NBS卡片3.2毫米穿孔（约3 μ L全血）中含有的trec数量。流式细胞术用于计数T细胞数量的足月婴儿和早产儿，当他们达到相当于至少37周妊娠，TREC值小于25/ μ l时，由临床免疫学家评估患有T细胞淋巴细胞减少症的婴儿。主要观察指标：流式细胞术证实TREC值小于25/ μ L伴有t细胞淋巴细胞减少的婴儿人数。结果TREC检测共筛查婴儿71000例。17例妊娠至少37周的婴儿有至少1项TREC检测异常（TREC值）
Context A newborn blood screening (NBS) test that could identify infants with a profound deficiency of T cells may result in a reduction in mortality.Objective To determine if quantitating T-cell receptor excision circles (TRECs) using real-time quantitative polymerase chain reaction on DNA extracted from dried blood spots on NBS cards can detect infants with T-cell lymphopenia in a statewide program.Design, Setting, and Participants Between January 1 and December 31, 2008, the Wisconsin State Laboratory of Hygiene screened all infants born in Wisconsin for T-cell lymphopenia by quantitating the number of TRECs contained in a 3.2-mm punch (approximately 3 mu L of whole blood) of the NBS card. Flow cytometry to enumerate the number of T cells was performed on full-term infants and preterm infants when they reached the equivalent of at least 37 weeks' gestation with TREC values of less than 25/mu L. Infants with T-cell lymphopenia were evaluated by a clinical immunologist.Main Outcome Measures The number of infants with TREC values of less than 25/mu L with T-cell lymphopenia confirmed by flow cytometry.Results Exactly 71 000 infants were screened by the TREC assay. Seventeen infants aged at least 37 weeks' gestation had at least 1 abnormal TREC assay (TREC values