背景除非定义了新生儿筛查(NBS)参数的截止水平,筛查测试的结果将以高召回率和忧虑的父母告终。该研究旨在建立健康足月新生儿的截止水平。材料和方法该研究是对我们研究所接受NBS的1158例足月新生儿进行的回顾性观察数据分析。计算了NBS参数的百分位分布,并将第99百分位值视为新的截止值。对于较低的值,如新生儿葡萄糖6-磷酸脱氢酶(nG6PD)和新生儿生物素酶(nBIOT),低百分位值被视为新的截止值。结果新生儿促甲状腺激素(nTSH),nG6PD,新生儿免疫反应性胰蛋白酶原(nIRT),nBIOT在分布上表现出很大的差异。大多数新生儿有新生儿半乳糖(nGAL),nIRT,nBIOT值高于中位数。nTSH的第99个百分位值为14.5mIU/L,新生儿17-羟孕酮(n17-OHP)为43.7nmol/L。nG6PD的第1.0百分位值降至2.18IU/gHb。nBIOT的新截止值,nIRT,新生儿苯丙酮尿症(nPKU)和nGAL为48.59U,95.3µg/L,2.3mg/dL和15.9mg/dL。在出生的前五天,平均和中位数nTSH值没有显着差异(p=0.99)。相反,研究人群在第3天显示n17-OHP水平显著升高,随后急剧下降(p=0.029).同样,nIRT在前五天表现出显著差异(p=0.017)。结论使用NBS参数的第99个百分位值作为新的截止水平可能在召回率和成本负担方面是有益的。
Background Unless a cutoff level of the parameters of newborn screening (
NBS) is defined, a screening test\'s results would end in high recall rates and apprehensive parents. The
study aimed to establish a cutoff level of the healthy term newborns. Materials and methods The
study was a retrospective observational data analysis on a cohort of 1158 term newborns who underwent
NBS in our institute. The percentile distribution of the NBS parameters was computed and the 99th percentile value was considered the new cutoff. For lower values, such as neonatal glucose 6-phosphate dehydrogenase (nG6PD) and neonatal biotinidase (nBIOT), low percentile values were regarded as new cutoff value. Results Neonatal thyroid stimulating hormone (nTSH), nG6PD, neonatal immunoreactive trypsinogen (nIRT), and nBIOT showed a wide variation in the distribution. Most newborns had neonatal galactose (nGAL), nIRT, and nBIOT values above the median. The 99th percentile value of nTSH was 14.5 mIU/L, and that of neonatal 17-hydroxyprogesterone (n17-OHP) was 43.7 nmol/L. The 1.0th percentile value for nG6PD was decreased to 2.18 IU/gHb. The new cutoff values for nBIOT, nIRT, neonatal phenylketonuria (nPKU) and nGAL were 48.59 U, 95.3 µg/L, 2.3 mg/dL and 15.9 mg/dL. The mean and median nTSH values did not significantly differ (p=0.99) in the first five days of birth. On the contrary, the
study population depicted considerably raised levels of n17-OHP on day 3, followed by a sharp decrease (p=0.029). Similarly, nIRT displayed significant differences in the first five days (p=0.017). Conclusion Using the 99th percentile values of the NBS parameters as the new cutoff levels might be beneficial in terms of the recall rates and cost burden.