McMahon Rebecca, DeMartino Lenore, Sowizral Mycroft, Powers Diana, Tracy Melissa, Caggana Michele, Tavakoli Norma P
Wadsworth Center, Division of Genetics, New York State Department of Health, Albany, NY 12208, USA.
Scientific Core, Wadsworth Center, New York State Department of Health, Albany, NY 12208, USA.
Int J Neonatal Screen. 2021 Feb 3;7(1):8. doi: 10.3390/ijns7010008.
Newborn screening for congenital hypothyroidism (CH) is performed by measuring the concentration of thyroxine (T4) and/or thyroid-stimulating hormone (TSH) in dried blood spots. Unfortunately, the levels of T4 and TSH vary due to multiple factors, and therefore the false-positive rate for the test is a challenge. We analyzed screening data from 2008 to 2017 to determine the effect of seasonal changes and manufacturer kit lot changes on T4 and TSH values and on numbers of infants referred. Over a 10-year period, we screened 2.4 million infants using commercially available fluoroimmunoassays to measure T4 and TSH concentrations in dried blood spots. During colder months, daily mean T4 and TSH values were higher and referral rates and false-positive rates were higher. However, there was no significant difference between the number of confirmed CH cases. Furthermore, in rare instances, we observed differences in T4 daily mean values during the 10-year period when manufacturer kit lot changes were made. Seasonal temperature variations influence measured T4 and TSH values and consequently lower the positive predictive value for CH testing in colder months. Newborn screening (NBS) programs should be aware that manufacturer kit lot changes may also influence T4 values.
先天性甲状腺功能减退症（CH）的新生儿筛查是通过测量干血斑中的甲状腺素（T4）和/或促甲状腺激素（TSH）浓度来进行的。不幸的是，由于多种因素，T4和TSH水平会有所不同，因此该检测的假阳性率是一个挑战。我们分析了2008年至2017年的筛查数据，以确定季节变化和制造商试剂盒批次变化对T4和TSH值以及转诊婴儿数量的影响。在10年期间，我们使用市售的荧光免疫测定法对240万婴儿进行了筛查，以测量干血斑中的T4和TSH浓度。在较冷的月份，每日平均T4和TSH值较高，转诊率和假阳性率也较高。然而，确诊CH病例的数量之间没有显著差异。此外，在极少数情况下，我们观察到在10年期间制造商试剂盒批次发生变化时，T4每日平均值存在差异。季节性温度变化会影响所测量的T4和TSH值，从而降低较冷月份CH检测的阳性预测值。新生儿筛查（NBS）项目应意识到制造商试剂盒批次变化也可能影响T4值。
