分析后工具对纽约克拉贝病和庞贝病筛查的影响。
The Impact of Post-Analytical Tools on New York Screening for Krabbe Disease and Pompe Disease.
作者信息
Martin Monica M, Wilson Ryan, Caggana Michele, Orsini Joseph J
机构信息
Wadsworth Center, New York State Department of Health, Newborn Screening Program, David Axelrod Institute, 120 New Scotland Ave., Albany, NY 12201, USA.
出版信息
Int J Neonatal Screen. 2020 Aug 14;6(3):65. doi: 10.3390/ijns6030065.
New York uses a two-tier assay to screen newborns for Krabbe disease and Pompe disease. Individual enzyme activities are measured in the first-tier, and specimens from newborns with low activity are reflexed to second tier Sanger sequencing of the associated gene. Using only this two-tiered approach, the screen positive and false positive rates were high. In this study, we added an additional step that examines the activity of four additional lysosomal enzymes. Results for all enzymes are integrated using the multivariate pattern recognition software called Collaborative Laboratory Integrated Reports (CLIR) to assess the risk for disease. Results after one year of screening using the new algorithm are compared to the prior year of screening without consideration of the additional enzymes and use of CLIR. With CLIR the number of babies referred for Krabbe disease was reduced by almost 80% (from 48 to 10) and the number of babies referred for Pompe disease was reduced by almost 32% (22 to 15).
纽约采用两级检测法对新生儿进行克拉伯病和庞贝病筛查。在一级检测中测量个体酶活性，酶活性低的新生儿样本会进入二级检测，对相关基因进行桑格测序。仅使用这种两级检测方法时，筛查阳性率和假阳性率都很高。在本研究中，我们增加了一个额外步骤，即检测另外四种溶酶体酶的活性。使用名为协作实验室综合报告（CLIR）的多变量模式识别软件整合所有酶的检测结果，以评估患病风险。将使用新算法筛查一年后的结果与上一年未考虑额外酶及未使用CLIR时的筛查结果进行比较。使用CLIR后，因克拉伯病被转诊的婴儿数量减少了近80%（从48例降至10例），因庞贝病被转诊的婴儿数量减少了近32%（从22例降至15例）。
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