Screening of Neonatal UK Dried Blood Spots Using a Duplex TREC Screening Assay
Screening of Neonatal UK Dried Blood Spots Using a Duplex TREC Screening Assay
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DOI：
10.1007/s10875-014-0007-6
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发表时间：
2014-04-01
影响因子：
9.1
通讯作者：
Gaspar, H. Bobby
中科院分区：
文献类型：
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作者：
Adams, Stuart P.;Rashid, Samina;Gaspar, H. Bobby
严重联合免疫缺陷（SCID）被认为是一种儿科急症，除非及时发现，否则可能危及生命。通常情况下，婴儿直到病情严重，感染导致治疗并发症和预后较差时才被诊断为SCID。我们的目的是测试一种新的商业双相测定法来测量T细胞受体切除圈（trec），以确定它是否适用于英国新生儿SCID筛查。方法对5000多例匿名回顾性干血点（DBS）和18例确诊的SCID阳性干血点（DBS）进行回顾性分析，采用新开发的双工法测定trec水平和对照基因水平。我们还纳入了早产儿和新生儿重症监护病房（NICU）婴儿的检测，因为这些在其他TREC筛查分析中显示出较高的假阳性率。结果18份SCID DBS标本均成功鉴定为SCID阳性。检测到的推定阳性数量取决于TREC的截止阈值设置。当使用5种不同的TREC截断值（20、25、30、35和40 TREC拷贝/ μ l血液）进行分析时，检测样本的推定阳性率为0.04%至1.00%。早产儿和新生儿从新生儿重症监护病房没有显示高推定假阳性率。结论：该研究表明，该双联检测试剂盒将识别所有新生儿SCID推定阳性。数据还表明，通过适当的TREC截止设置，在国家筛查服务的背景下，非scid新生儿的推定阳性数量将是可控的。
Purpose Severe Combined Immunodeficiency (SCID) is considered to be a paediatric emergency and unless identified promptly can be life-threatening. Frequently, infants are not diagnosed with SCID until they have become seriously ill with infection leading to treatment complications and a poorer prognosis. We aimed to test a newly available commercial duplex assay to measure T cell receptor excision circles (TRECs) to establish if this would be suitable for newborn screening for SCID in the UK.Methods Over 5000 anonymous retrospective dried blood spots (DBS) were used alongside 18 confirmed SCID positive DBS with a newly available duplex assay to measure TRECs levels and control gene levels. We also included testing of premature babies and babies from neonatal intensive care units (NICU) as these have been shown to have high false positive rates in other TREC screening assays.Results All 18 SCID DBS samples were successfully identified as SCID positives in the study. The number of presumptive positives detected was dependent on the TREC cut-off threshold settings. When analysed with five different TRECs cut-off values (20, 25, 30, 35 and 40 TREC copies/mu l blood) the presumptive positive rate ranged from 0.04 to 1.00 % of samples tested. Premature infants and neonates from NICU did not show high presumed false positive rates in this assay.Conclusions The study demonstrated that this duplex assay kit will identify all newborns with SCID as presumptive positives. The data also shows that with suitable TREC cutoff settings the number of presumptive positives from nonSCID newborns will be manageable in the context of a national screening service.