临沂地区全自动荧光免疫分析仪GSP^(TM)检测17α-羟孕酮切值的初步建立  

Preliminary establishment the cut-offvalue of 17 α-hydroxyprogesterone detected by Genetic Screening Processor(GSP™)in Linyi area

作　　者：赵兰花 韦洪伟 王敏 ZHAOLan-hua;WEI Hong-wei;WANG Min(Medical Genetics Department of Linyi Maternal and Child Health Hospital,Shandong Linyi 276000)

机构地区：[1]临沂市妇幼保健院医学遗传科,山东临沂276000

出　　处：《医学检验与临床》2024年第4期24-28,共5页Medical Laboratory Science and Clinics

摘　　要：目的:初步建立临沂地区参加新生儿先天性肾上腺皮质增生症筛查中不同孕周和出生体重的17-羟孕酮的切值。方法:统计2017年-2021年临沂地区共647283例新生儿疾病筛筛查样本,采用全自动免疫荧光分析仪(GSP)对新生儿滤纸干血斑中7α-羟孕酮的浓度进行检测;根据孕周和出生体重不同分为低体重早产儿(体重<2500克、孕周<37W)、低体重足月产儿(体重<2500克、孕周≥37W)、正常体重早产儿(体重≥2500克、孕周<37W)和正常体重足月儿(体重≥2500克、孕周≥37W)四组分析不同出生孕周和体重的新生儿17α-羟孕酮的检测情况,采用百分位数法确定切值。结果:647283例新生儿中阳性3971例,阳性率为0.61%,最终确诊先天性肾上腺皮质增生症患儿31例,发病率约为两万分之一(1/20,880)。根据不同组别17α-羟孕酮浓度的95.0%和99.5%百分位数值,初步确定本地区早产儿17α-羟孕酮浓度的切值为25nmo·lL^(-1),足月儿17α-羟孕酮浓度的切值为11nmo·lL^(-1)。结论:应结合临床确诊患者数据,建立适合本地区不同出生孕周和体重的17α-羟孕酮的切值,既能防止漏诊,又能减少假阳性率,提高阳性预测值。Objective:To determine the cut-off value of 17-hydroxyprogesterone at different gestational weeks and birth weight in screening for neonatal congenital adrenal hyperplasia in Linyiarea.Methods:The study analyzed 647283 newborn screening samples from the Linyi region between 2017 and 2021.The samples were tested using the fully automated immunofluorescence analyzer(GSP)to measure the concentration of 17α-OHP in dried blood spots on filter paper.The newborns were grouped by gestational age and birth weight into low birth weight preterm infants(weight<2500 g,gestational age<37 weeks),low birth weight term infants(weight<2500 g,gestational age≥37 weeks),normal birth weight preterm infants(weight≥2500 g,gestational age<37 weeks),and normal birth weight term infants(weight≥2500 g,gestational age≥37 weeks)for analysis of 17α-OHP concentration values.Cutoff values were determined using the percentile method.Results:The study found that out of the 647283 newborns,3971 were 17α-OHP positive,resulting in a positivity rate of 0.61%.Of these,31 newborns were diagnosed with CAH,giving a prevalence of approximately 1 in 20880.Cutoff values for 17α-OHP were determined to be 25 nmo·l L^(-1) for preterm infants and 11 nmo·l L^(-1) for term infants,based on the 95.0%and 99.5%percentile values of different groups'17α-OHP concentrations.Conclusion:This study suggests the need to establish appropriate cutoff values for 17α-OHP in newborns with CAH screening in the Linyi region based on clinical diagnosis data.This can help reduce false positive rates,improve positive predictive values,and avoid missed diagnosis.

关 键 词：新生儿疾病筛查 17α-羟孕酮 肾上腺皮质增生症 切值 

分 类 号：R446.6[医药卫生—诊断学]