Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: The Mayo Clinic experience (2004-2007)
Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: The Mayo Clinic experience (2004-2007)
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DOI：
10.1007/s10545-007-0691-y
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发表时间：
2007-08-01
影响因子：
4.2
通讯作者：
Rinaldo, P.
中科院分区：
文献类型：
--
作者：
Matern, D.;Tortorelli, S.;Rinaldo, P.
新生儿筛查方案继续扩大，以包括更多的条件，增加了新生儿筛查实验室提供最高灵敏度和特异性检测的责任，以便能够识别受影响的患者，同时尽量减少假阳性率。一些测定和分析物特别成问题。近年来，我们的实验室试图改善这种情况，通过开发第二层测试，以减少假阳性结果的筛查先天性肾上腺增生症（CAH），酪氨酸血症I型，甲基丙二酸血症，同型胱氨酸尿症，枫糖浆尿病（MSUD）。从2004年开始，这种方法被应用于马约的新生儿筛查计划，导致假阳性率为0.09%，阳性预测值为41%，在1 672名接受筛查的婴儿中，阳性检出率为1例受影响病例。
The continued expansion of newborn screening programmes to include additional conditions increases the responsibility of newborn screening laboratories to provide testing with the highest sensitivity and specificity to allow for identification of affected patients while minimizing the false-positive rate. Some assays and analytes are particularly problematic. Over recent years, our laboratory tried to improve this situation by developing second-tier tests to reduce false-positive results in the screening for congenital adrenal hyperplasia (CAH), tyrosinaemia type I, methylmalonic acidaemias, homocystinuria, and maple syrup urine disease (MSUD). Beginning in 2004, this approach was applied to Mayo's newborn screening programme and resulted in a false-positive rate of 0.09%, a positive predictive value of 41%, and a positive detection rate of 1 affected case in 1672 babies screened.