State newborn screening in the tandem mass spectrometry era: More tests, more false-positive results
State newborn screening in the tandem mass spectrometry era: More tests, more false-positive results
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DOI：
10.1542/peds.2005-2026
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发表时间：
2006-08-01
期刊：
影响因子：
8
通讯作者：
Welch, H. Gilbert
中科院分区：
文献类型：
--
作者：
Tarini, Beth A.;Christakis, Dimitri A.;Welch, H. Gilbert
背景串联质谱法的出现使得有效地检测新生儿的多种状况成为可能。目前尚不清楚州新生儿筛查计划如何改变筛查实践，以应对这项技术，以及它如何影响假阳性测试结果的数量。我们从国家新生儿筛查和遗传资源中心获得了关于50个州中每个州的筛查实践的数据，以确定1995年至2005年期间添加到州新生儿筛查小组的强制性疾病的数量。结合文献报道的特异性和各州出生人数，我们估计了2005年通过串联质谱筛查获得假阳性结果的婴儿数量。1995年，平均每个州强制筛查5种疾病（范围：0 - 8种疾病）。怀俄明州是唯一一个在接下来的十年里缩小了面板尺寸的州。堪萨斯州和德克萨斯州是1995年至2005年期间唯一没有将疾病添加到他们的面板中的州;平均每个州增加了19种。爱荷华州、明尼苏达州、密西西比州、南达科他州和田纳西州各增加了>= 40种疾病。假设对一种疾病的个体检测具有99.995%的特异性，我们估计在2005年，通过串联质谱筛查，大约有2575名婴儿会得到假阳性结果。如果假设特异性为99.9%，则数量增加到> 51000。国家新生儿筛查计划在过去十年中急剧扩大。由于在某些情况下，这种检测的益处可能尚不清楚，而且可能会收到假阳性结果并可能被错误地标记为患有疾病的婴儿数量可能相当大，因此需要采取更谨慎的方法。
BACKGROUND. The advent of tandem mass spectrometry has made it possible to test newborns for multiple conditions efficiently. It is not known how state newborn screening programs have changed screening practices in response to this technology and how it affects the number of false-positive test results.METHODS. We obtained data from the National Newborn Screening and Genetics Resource Center regarding the screening practices for each of the 50 states, to determine the number of mandated disorders added to state newborn screening panels between 1995 and 2005. Combining these data with reported specificities from the literature and the number of births in each state, we estimated the number of infants who would have received false-positive results through screening with tandem mass spectrometry in 2005.RESULTS. The average state mandated screening for 5 disorders in 1995 ( range: 0 - 8 disorders). Wyoming was the only state that decreased its panel size over the next decade. Kansas and Texas were the only states that did not add disorders to their panels between 1995 and 2005; the average state added 19. Iowa, Minnesota, Mississippi, South Dakota, and Tennessee each added >= 40 disorders. Assuming that an individual test for a disorder had a specificity of 99.995%, we estimated that similar to 2575 infants would have received false-positive results through screening with tandem mass spectrometry in 2005. If specificity was assumed to be 99.9%, then the number increased to > 51000.CONCLUSIONS. State newborn screening programs have expanded dramatically in the past decade. Because the benefit of such testing may be unclear in some cases and because the number of infants who may receive false-positive results and may be labeled falsely as having disease is potentially sizeable, a more cautious approach is needed.