摘要
目的对中山市85323例新生儿行串联质谱法筛查高苯丙氨酸血症(HPA)的结果进行回顾性分析,评价重设定苯丙氨酸(Phe)、Phe/酪氨酸(Tyr)切值在新生儿HPA筛查中的临床价值。方法选取2014年2月至2018年9月行串联质谱法筛查HPA的新生儿为研究对象,分析切值重设定前后的初筛和确诊情况,了解切值重设定的临床意义。结果切值重设定前后新生儿HPA的筛查阳性率分别为4.57%(1716/37527)、0.47%(223/47796),分别确诊HPA2、3例,该市新生儿HPA发病率约为1/17064(5/85323)。Phe与Phe/Tyr新切值联用对全部新筛结果、切值设定前后及男女新筛结果进行分析,筛查阳性率分别为0.02%、0.01%、0.02%、0.02%、0.02%,均明显低于分别使用Phe原新切值、Phe与Phe/Tyr原切值及HPA诊断“金标准”(120μmol/L)对其进行新筛的阳性率,进一步验证新切值筛查性能结果显示无漏筛,且随访未发现假阴性案例,表明Phe、Phe/Tyr新切值联用在保持筛查敏感性的同时,可提高新生儿HPA的筛查特异度;新生儿性别对Phe、Phe/Tyr切值的影响差异无统计学意义(P>0.05)。结论串联质谱法筛查新生儿HPA在实验室积累一定样本量情况下,应重设定本实验室的参考值,以获得更高的筛查特异性,指导临床早期确诊和治疗新生儿HPA。
Objective To retrospectively analyze the hyperphenylalaninemia (HPA) screening results of 85 323 neonates by tandem mass spectrometry (MS/MS) in Zhongshan to evaluate the clinical value of resetting cut-off of phenylalanine (Phe) and Phe/tyrosin (Phe/Tyr) in neonatal screening for HPA. Methods The newborns screened for HPA by tandem mass spectrometry from February 2014 to September 2018 were selected as the research objects.The initial screening and diagnosis before and after the reset of cut-off value were analyzed to understand the clinical significance of the reset of cut-off value. Results The positive rate of HPA screening was 4.57%(1 716/37 527) and 0.47%(223/47 796) and 2 cases and 3 cases were diagnosed as HPA before and after the reset of cut-off value respectively.The incidence of HPA in newborns in this city is about 1/17 064 (5/85 323).The new cut-off values of Phe and Phe/Tyr were used to analyze the results of all neonatal disease screening,before and after the cut-off setting and for male and female newborns.The positive screening rates were 0.02%,0.01%,0.02%,0.02%,and 0.02%,respectively,which were significantly lower than the positive screening rate using original and new cut-off value of the Phe,original cut-off value of Phe combined Phe/Tyr,HPA diagnostic gold standard (120 μmol/L).Further verification of the new cut-off value screening performance showed no missing screen,and no false negative cases were found during follow-up,it was clarified that new cut-off values of Phe combined Phe/Tyr can improve the screening specificity of neonatal HPA while maintaining screening sensitivity.There was no statistical difference in the effect of neonatal gender on cut-off values of Phe and Phe/Tyr (P >0.05). Conclusion The cut-off value of neonatal HPA screening by MS/MS should be reset to obtain higher screening specificity after a large number of screening data is accumulated in the laboratory,in order to obtain higher screening specificity and guide clinical early diagnosis and treatment of neonatal H
作者
吴学威
李闪闪
万志丹
李冬秀
梁睿
钟裕恒
欧锦留
黄湘
WU Xuewei;LI Shanshan;WAN Zhidan;LI Dongxiu;LIANG Rui;ZHONG Yuheng;OU Jinliu;HUANG Xiang(Prenatal Diagnosis Center,Boai Hospital Affiliated to Southern Medical University,Zhongshan,Guangdong 528403,China;the Second School of Clinical Medicine,Southern Medical University,Guangzhou,Guangdong 510000,China)
出处
《国际检验医学杂志》
CAS
2019年第12期1444-1447,1452,共5页
International Journal of Laboratory Medicine
基金
中山市科技计划重大项目(2016B1009)
中山市医学科研基金项目(2017J102)
关键词
新生儿疾病筛查
串联质谱
高苯丙氨酸血症
切值重设定
neonatal disease screening
Tandem Mass Spectrometry
hyperphenylalaninemia
reset cut-off value
