Matern D, Tortorelli S, Oglesbee D, Gavrilov D, Rinaldo P
Biochemical Genetics Laboratory, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA.
J Inherit Metab Dis. 2007 Aug;30(4):585-92. doi: 10.1007/s10545-007-0691-y. Epub 2007 Jul 23.
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.
新生儿筛查项目持续扩大，纳入更多疾病，这增加了新生儿筛查实验室的责任，即要提供具有最高灵敏度和特异性的检测，以便识别受影响的患者，同时将假阳性率降至最低。一些检测方法和分析物尤其成问题。近年来，我们实验室试图通过开发二线检测来改善这种情况，以减少先天性肾上腺皮质增生症（CAH）、I型酪氨酸血症、甲基丙二酸血症、同型胱氨酸尿症和枫糖尿症（MSUD）筛查中的假阳性结果。从2004年开始，这种方法应用于梅奥诊所的新生儿筛查项目，结果假阳性率为0.09%，阳性预测值为41%，在1672名接受筛查的婴儿中，阳性检出率为1例患病婴儿。
