间接法建立上海地区新生儿G6PD筛查临界值的可行性  

Feasibility of indirect method to establish the cut-off value of neonatal G6PD screening in Shanghai

作　　者：纪伟 田国力[1] 朱之星 周卓[1] 王燕敏[1] 张潇分 JI Wei;TIAN Guoli;ZHU Zhixing;ZHOU Zhuo;WANG Yanmin;ZHANG Xiaofen(Neonatal Screening Center,Shanghai Children's Hospital,Children's Hospital of Shanghai Jiao Tong University,Shanghai 200040,China;Center of Biomedical Informatics,Shanghai Children's Hospital,Children's Hospital of Shanghai Jiao Tong University,Shanghai 200040,China)

机构地区：[1]上海市儿童医院上海交通大学附属儿童医院新生儿筛查中心,上海200040 [2]上海市儿童医院上海交通大学附属儿童医院生物医学信息研究中心,上海200040

出　　处：《检验医学》2022年第2期112-116,共5页Laboratory Medicine

基　　金：上海市科学技术委员会科研项目(18441905100);上海市重中之重临床重点专科建设项目(2017ZZ02019)。

摘　　要：目的探讨间接法建立上海地区新生儿葡萄糖-6-磷酸脱氢酶(G6PD)筛查临界值的可行性。方法收集134747名新生儿的G6PD检测数据,采用Kolmogorov-Smirnov检验分析数据分布。偏态分布数据采用Box-Cox转换成近似正态分布。采用四分位间距(Turkey)法剔除离群值后建立参考区间,以参考区间下限[单边第5百分位数值(P5)]作为筛查临界值。将建立的临界值分别与厂商声明的参考区间下限和上海市儿童医院新生儿筛查实验室临床验证阶段采用小样本建立的临界值作比较,计算相对偏差,并与参考变化值(RCV)进行比较。结果134747名新生儿中确诊G6PD缺乏症233例,G6PD缺乏症发病率为1∶579。采用间接法建立上海地区的G6PD筛查临界值,男婴为317.8 U/L,女婴为325.7 U/L。该临界值与厂商声明的参考区间下限及上海市儿童医院新生儿筛查实验室依据小样本建立的临界值的相对偏差均高于RCV。233例G6PD缺乏症患儿的G6PD水平均低于建立的筛查临界值。依据该筛查临界值,70份室间质量评价样本的阴性、阳性符合率均达100%。结论采用间接法建立G6PD的参考区间和筛查临界值,可为提高新生儿G6PD缺乏症的筛查效率。Objective To investigate the feasibility of establishing the cut-off value of glucose-6-phosphate dehydrogenase(G6PD)screening for newborns in Shanghai by indirect method.Methods The G6PD determination data of 134747 newborns were collected,and the Kolmogorov-Smirnov test was used to analyze the datum distribution.The skewed distribution data were converted into an approximately normal distribution using Box-Cox.The interquartile range(Turkey)method was used to eliminate outliers and establish a reference interval,with the lower limit of the reference interval[single-side 5th percentile value(P5)]as the screening cut-off value.The established cut-off value with the lower limit of the reference interval declared by the manufacturer and the cut-off value established by a small sample in the clinical verification phase of the Neonatal Screening Laboratory of Shanghai Children's Hospital were compared,the relative deviation was calculated,and it was compared with the reference change value(RCV).Results Among 134747 newborns,233 cases of G6PD deficiency were diagnosed,and the incidence of G6PD deficiency was 1∶579.The indirect method was used to establish the G6PD screening cut-off value in Shanghai,which was 317.8 U/L for male infants and 325.7 U/L for female infants.The relative deviation of this cut-off value from the lower limit of the reference interval declared by the manufacturer and the cut-off value established by the Neonatal Screening Laboratory of Shanghai Children's Hospital based on a small sample was higher than RCV.The G6PD levels of 233 cases of G6PD deficiency were lower than the established screening cut-off value.Based on this screening cut-off value,the coincidence rate of both negative and positive for 70 external quality assessment samples reached 100%.Conclusions Using indirect method to establish the reference interval and the cut-off value of G6PD can improve the screening efficiency of neonatal G6PD deficiency.

关 键 词：葡萄糖-6-磷酸脱氢酶 新生儿疾病筛查 间接法 临界值 

分 类 号：R446.1[医药卫生—诊断学]