红细胞压积:新生儿筛查中的一个不可控变量?

Alejandro Mario Vilche Juárez, G. Dratler, S. Marino, Sofia Coniglio, Florencia Tommasi, S. Quiroga
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引用次数: 0

摘要

简介:干血斑(dbs)是新生儿筛查实验室的宝贵样本。新生儿筛查确定的临界值是基于平均红细胞压积值(55%)。新生儿超过临界值的测定再次引用确认样本收集。目的:开发一种实验室技术,可以了解新生儿筛查dbs样本中红细胞压积的价值,并研究红细胞压积变量对新生儿筛查结果的影响。材料和方法:对两个新生儿筛查实验室1124份样本进行分析。使用免疫反应性胰蛋白酶(IRT)估计DBS样品中的红细胞压积,并测定17-羟基孕酮(17-OHP)。考虑到估计值,在有和没有血细胞比容校正的情况下对结果进行评估。结果:183份样品(未校正)超过各实验室建议的截止值:tsh 49份,irt 44份,OHP 17份。使用红细胞压积估计,18例(36.7%)新生儿超过TSH临界值,25例(56.7%)在IRT测量中,39例(43.3%)在17OHP测定中。如果在DBS样本中使用填充红细胞的校正,183名新生儿中只有44.8%需要再次引用。讨论:红细胞压积的估计将允许校正dbs样品的体积。我们建议对超过临界值的样本使用红细胞压积估计。通过降低索要新样品的比例,我们可以避免它给家庭带来的痛苦。
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Hematocrit: an uncontrollable variable in newborn screening?
Introduction: dried blood spots (dbs) are valuable samples for the newborn screening laboratory. Cut-off values for neonatal screening determinations are based on an average hematocrit value (55 %). Newborns that exceed the cut-off value of the determinations are cited again for a confirmatory sample collection. Objective: to develop a laboratory technique that allows knowing the value of the hematocrit in the dbs samples of neonatal screening and to study the impact of the hematocrit variable on the results of neonatal screening. Material and methods: 1124 samples from two neonatal screening laboratories were analyzed. The hematocrit in the DBS samples was estimated using immunoreactive trypsin (IRT), and 17-hydroxyprogesterone (17-OHP) were determined. The results were evaluated with and without hematocrit correction taking into account the estimated value. Results: 183 samples (without correction) exceeded the cut off value proposed by each laboratory: 49 for tsh, 44 for irt, and 90 for 17 OHP. Using the hematocrit estimation, 18 (36.7 %) newborns exceeded the TSH cut-off value, 25 (56.7 %) in the IRT measurement and 39 (43.3 %) in 17OHP determination. If the correction of the packed red cell had been used in the DBS samples, only 44.8% of the 183 newborns would have had to be cited again. Discussion: the estimation of the hematocrit would allow the correction of the volume in the dbs samples. We suggest the use of hematocrit estimation for samples that exceed the cut-off value. By lowering the percentage of requests for new samples we would avoid the anguish that it causes in the family.
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