利用GSP分析仪筛查新生儿先天性肾上腺皮质增生症的性能验证及应用

doi:10.11852/zgetbjzz2018-26-11-04

中国儿童保健杂志 ›› 2018, Vol. 26 ›› Issue (11): 1172-1175.DOI: 10.11852/zgetbjzz2018-26-11-04

利用GSP分析仪筛查新生儿先天性肾上腺皮质增生症的性能验证及应用

万智慧,胡锦春,简永建,刘伟,马志军

首都医科大学附属北京妇产医院,北京妇幼保健院检验科,北京 100026

收稿日期:2018-05-31 修回日期:2018-08-15
通讯作者: 马志军,E-mail:masu7162000@hotmail.com
作者简介:万智慧(1988-),女,助理研究员,博士学位,主要研究方向为新生儿疾病筛查和遗传代谢病机制
基金资助:
国家自然科学基金-青年科学基金项目(31700881);首都医科大学基础-临床科研合作基金(17JL58)

Evaluation of the performance of genetic screening processor in screening for congenital adrenal hyperplasia in newborns

WAN Zhi-hui, HU Jin-chun, JIAN Yong-jian, LIU Wei, MA Zhi-jun

Department of Clinical Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing 100026,China

Received:2018-05-31 Revised:2018-08-15
Contact: MA Zhi-jun, E-mail: masu7162000@hotmail.com

摘要/Abstract

摘要： 目的利用GSP分析仪检测新生儿先天性肾上腺皮质增生症(CAH)筛查的指标——血17羟孕酮(17-OHP),分析GSP性能,并比较GSP与AutoDELFIA 1235检测方法的一致性,评估GSP分析仪及检测方法应用于新生儿CAH筛查的可行性。方法 1)检测GSP 17-OHP测定试剂盒3305-0010自带质控品和美国疾病预防与控制中心(Centers for Disease Control and Prevention, CDC)发放的17-OHP室间质评标本,通过计算不精密度、正确度和线性评估GSP筛查CAH的性能;2)收集用AutoDELFIA 1235检测出的可疑阳性样本108例及未检测的新筛样本2 180例,分别用GSP和AutoDELFIA 1235进行检测,分析两种方法的一致性,并比对GSP与临床诊断的一致性;3)通过百分位法统计分析确定初始的切值(cut off值)。结果 1)GSP检测17-OHP的批内和批间精密度分别为3.35%~5.35% 和 3.07%~6.21%;正确度、线性符合要求;2)GSP和AutoDELFIA 1235筛查CAH的阳性、阴性和总的一致性分别为59.7%、99.8%和97.7%,GSP检测CAH的敏感性和特异性分别为100%、96.93%;(3)GSP筛查CAH时17-OHP的初始cut off值设为12.0 nmol/L。结论 1)GSP分析仪的性能满足实验室要求,可应用于新生儿CAH的筛查。2)GSP检测17-OHP与AutoDELFIA 1235相比,其检测方法的特异性更高,检测值更低,GSP应用于CAH筛查需要根据统计结果重新设定新的cut off值。

关键词: GSP, 新生儿疾病筛查, 全自动检测, 17羟孕酮

Abstract: Objectives To evaluate the feasibility of genetic screening processor (GSP) equipment applied in the screening for congenital adrenal hyperplasia (CAH) in newborns by detecting 17-OH-progesterone (17-OHP) in blood, and to analyze the consistency between GSP and AutoDELFIA 1235 method.Methods 1) The performance of GSP applied in CAH screening was evaluated through calculating the inaccuracy, precision and linearity of GSP in detecting 17-OHP of dried blood spots specimens from American centers for disease control and prevention(CDC)and the quality control in the reagent kit. 2) A total of 2288 samples (2180 unknown and 108 AutoDELFIA 1235 positive samples) were detected by GSP and AutoDELFIA 1235, and the consistency between GSP and AutoDELFIA 1235 as well as clinical diagnosis was analyzed.3) The initial cut off value was determined by percentile statistical analysis.Results 1) The average of within-run coefficient of variation (CV) and between-run CV were 3.35%~5.35% and 3.07%~6.21%, respectively. The precision and linearity of GSP detection were fine. 2) The positive, negative and total consistency of GSP and AutoDELFIA 1235 were 59.7%, 99.8% and 97.7% respectively.The sensitivity and specificity of GSP were 100% and 96.93%, respectively. 3) It is recommended to use 12 nmol/L as cutoff value.Conclusions 1) GSP equipment and kits are suitable for implementation and have acceptable performance for NBS of CAH. 2) GSP method has advantages compared with AutoDELFIA 1235, such as higher specificity. GSP methodology tends to underestimate 17-OHP concentration when compared with AutoDELFIA assay, so more clinical studies are warranted to reevaluate cutoff value.

Key words: genetic screening processor (GSP), newborn screening, full automatic detection, 17-OH-progesterone

中图分类号:

R179

万智慧,胡锦春,简永建,刘伟,马志军. 利用GSP分析仪筛查新生儿先天性肾上腺皮质增生症的性能验证及应用[J]. 中国儿童保健杂志, 2018, 26(11): 1172-1175.

WAN Zhi-hui, HU Jin-chun, JIAN Yong-jian, LIU Wei, MA Zhi-jun. Evaluation of the performance of genetic screening processor in screening for congenital adrenal hyperplasia in newborns[J]. journal1, 2018, 26(11): 1172-1175.

0
/ / 推荐

导出引用管理器 EndNote|Ris|BibTeX

链接本文: https://manu41.magtech.com.cn/Jwk_zgetbjzz/CN/10.11852/zgetbjzz2018-26-11-04

https://manu41.magtech.com.cn/Jwk_zgetbjzz/CN/Y2018/V26/I11/1172

参考文献

[1] Hayashi GY, Carvalho DF, Miranda MC, et al. Neonatal 17-hydroxyprogesterone levels adjusted according to age at sample collection and birthweight improve the efficacy of congenital adrenal hyperplasia newborn screening[J].Clinical endocrinology, 2017,86(4):480-487.
[2] 简永建, 胡锦春, 马志军, 等. 北京地区先天性肾上腺皮质增生症筛查实验结果的探讨分析[J].中国优生与遗传杂志,2017,25(7):90-92.
[3] Choi JH, Kim GH, Yoo HW. Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency[J].Ann Pediatr Endocrinol Metab,2016,21(1):1-6.
[4] 叶军. 先天性肾上腺皮质增生症新生儿筛查[J].中国实用儿科杂志, 2016,31(6):422-425.
[5] 简永建, 潘迎. 新生儿先天性肾上腺皮质增生症筛查诊断实验方法学发展[J].中国儿童保健杂志,2014,22(10):1065-1067.
[6] Ginalska-Malinowska M. Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency-the next disease included in the neonatal screening program in Poland[J].Dev Period Med,2018,22(2):197-200.
[7] Sahakitrungruang T. Clinical and molecular review of atypical congenital adrenal hyperplasia[J].Ann Pediatr Endocrinol Metab,2015,20(1):1-7.
[8] 王燕敏, 田国力, 周卓, 等. GSP 分析仪筛查新生儿疾病的性能验证和应用[J].临床检验杂志,2017,35(2):152-154.
[9] Kemper EA, Boelen A, Bosch AM, et al. Establishing new cut-off limits for galactose 1-phosphate-uridyltransferase deficiency for the Dutch newborn screening programme[J].JIMD Rep,2017,32:1-6.
[10] de Castro S M, Filippon L, Souza A C, et al. Evaluation of the genetic screening processor for the performance of newborn screening tests[J].Journal of Inborn Errors of Metabolism and Screening,2016,4:2326409816669370.

[1]	董丽萍, 张振, 崔艳国, 李庆波. 淄博市甲基丙二酸血症筛查指标应用分析[J]. 中国儿童保健杂志, 2022, 30(7): 792-795.
[2]	张亚果, 苏星月, 李婷, 胡琦, 周婧瑶, 张钰. 四川省部分地区新生儿遗传代谢病串联质谱筛查情况分析[J]. 中国儿童保健杂志, 2020, 28(7): 809-812.
[3]	刘鸿丽,李风侠. 2010-2016年陕西省新生儿疾病筛查治疗及随访结果分析[J]. 中国儿童保健杂志, 2018, 26(11): 1221-1223.
[4]	杨茹莱,童凡,徐艳华,赵正言. 先天性甲状腺功能低下症2 789例诊断标准与治疗探讨及预后研究[J]. 中国儿童保健杂志, 2017, 25(11): 1094-1097.
[5]	罗超,范歆,林彩娟,耿国兴,李旺,玉晋武,黄莹,文娟. 广西地区单胎和双胎新生儿先天性肾上腺皮质功能增生症筛查确诊结果分析[J]. 中国儿童保健杂志, 2016, 24(2): 183-184.
[6]	梁德武, 牟红梅, 张玲, 任紫兰, 李侠, 姜家艳, 刘锋, 杜芸芸, 刘晓莹. 安康市先天性甲状腺功能减低症筛查状况与治疗分析[J]. 中国儿童保健杂志, 2014, 22(7): 739-741.
[7]	姜雪锦,王晓蓉,王菁,顾雪珠,高静,王友洁. 先天性甲状腺功能低下症疗效评估及相关因素分析[J]. 中国儿童保健杂志, 2013, 21(4): 342-344.
[8]	王冰,闫学明. 2007-2011年北京市西城区新生儿疾病筛查管理现状分析[J]. 中国儿童保健杂志, 2013, 21(4): 412-414.
[9]	郑新灵. 台州市2000-2012年新生儿遗传代谢病筛查回顾分析[J]. 中国儿童保健杂志, 2013, 21(4): 414-416.
[10]	吴红波,吕魏峰,王云霞. 莱芜市133 866例新生儿疾病筛查结果分析[J]. 中国儿童保健杂志, 2013, 21(4): 442-443.
[11]	欧明才,张钰,胡琦,周靖瑶王蕊. 2000-2009年四川省新生儿苯丙酮尿症和先天性甲状腺功能减低症筛查情况分析[J]. 中国儿童保健杂志, 2013, 21(10): 1092-1095.
[12]	赵正言. 国际新生儿疾病筛查进展[J]. 中国儿童保健杂志, 2012, 20(3): 193-195.
[13]	杨茹莱. 关注甲状腺B超在先天性甲状腺功能减低症筛查中的作用[J]. 中国儿童保健杂志, 2012, 20(3): 196-198.
[14]	毛华庆,徐益红,杨茹莱,周雪莲,黄新文. 手机短消息服务在新生儿疾病筛查管理中的应用研究[J]. 中国儿童保健杂志, 2012, 20(3): 286-287.
[15]	裘蕾,丁辉,张玉敏,孔元原,杨海河,潘迎. 信息技术在新生儿疾病筛查领域中的研究与应用[J]. 中国儿童保健杂志, 2011, 19(8): 772-774.