Application of genetic screening processor in screening neonatal glucose-6-phosphate dehydrogenase deficiency

频谱分析仪 变异系数 医学 百分位 新生儿筛查 化学 色谱法 计算机科学 儿科 数学 统计 电信
作者
Haixia Miao,Yu Zhang,Kexin Fang,Yezhen Shi,Ting Zhang,Rongqing Chen,Dingwen Wu,Rulai Yang,Xinwen Huang
出处
期刊:Journal of Zhejiang University (Medical Sciences) [Science Press]
卷期号:50 (4): 487-493 被引量:1
标识
DOI:10.3724/zdxbyxb-2021-0275
摘要

To evaluate the performance of genetic screening processor (GSP analyzer) in neonatal screening for glucose-6-phosphate dehydrogenase (G6PD)deficiency. The accuracy and precision of GSP analyzer was evaluated with the control materials from National Center for Clinical Laboratories and the low and high quality G6PD control kit (fluorescence analysis). GSP analyzer and semi-automatic fluorescence immunoanalyzer (1420 analyzer) were simultaneously used to detect 2622 neonatal screening samples and 41 confirmed samples to analyze the correlation and consistency of the test results; 78 floating samples and 78 non-floating samples were detected to compare the result. A total of 1 100 384 neonatal screening samples from January 2017 to December 2018 and 855 856 neonatal screening samples from January 2019 to December 2020 were detected with 1420 analyzer and GSP analyzer, respectively. Referring to the percentile method and the expert consensus, the new cut-off value of GSP analyzer for G6PD deficiency in screening was established. The relative bias of GSP analyzer in detecting G6PD was 0.71%-4.23%; the intra assay precision was 4.34%-4.91%, the inter assay precision was 0.85%-2.12%, and the total coefficient of variation was 5.44%-5.72%. There was a significant positive correlation between G6PD activity detected by GSP analyzer and 1420 analyzer (=0.740, <0.01). Forty-one clinical confirmed patients were identified by both 1420 analyzer and GSP analyzer (=0.945). The G6PD activity in floating dry blood spots detected by 1420 analyzer was significantly lower than that in non-floating dry blood spots (<0.05), but there was no significant difference in G6PD activity between floating and non-floating dry blood spots detected by GSP analyzer (>0.05). The sensitivities of GSP analyzer and 1420 analyzer in screening G6PD deficiency were both 100.00%, and the specificities were both more than 99.80%. Compared with 1420 analyzer, the positive predictive value, positive rate and prevalence of G6PD deficiency detected by GSP analyzer were increased, and the false positive rate was decreased (all <0.01). The new cut-off value was 26.1 U/dL for male and 29.1 U/dL for female according to the 99.1% percentile of the population. GSP analyzer has better detection performance with high automation, efficiency and throughput, which can be used in large-scale screening for neonatal G6PD deficiency.

科研通智能强力驱动
Strongly Powered by AbleSci AI
更新
PDF的下载单位、IP信息已删除 (2025-6-4)

科研通是完全免费的文献互助平台,具备全网最快的应助速度,最高的求助完成率。 对每一个文献求助,科研通都将尽心尽力,给求助人一个满意的交代。
实时播报
wuy发布了新的文献求助10
1秒前
郑仲禹完成签到 ,获得积分10
1秒前
哈哈军哥哥完成签到,获得积分10
1秒前
张六六完成签到,获得积分10
2秒前
烟花应助淡淡夕阳采纳,获得10
2秒前
汉堡包应助收手吧大哥采纳,获得10
4秒前
sylnd126发布了新的文献求助10
4秒前
4秒前
lemon完成签到,获得积分10
4秒前
小烦同学完成签到,获得积分10
5秒前
SYLH应助橙子采纳,获得20
6秒前
我是鸡汤发布了新的文献求助10
6秒前
6秒前
7秒前
7秒前
7秒前
8秒前
8秒前
科研助手6应助能干的吐司采纳,获得10
8秒前
9秒前
CipherSage应助123采纳,获得10
9秒前
9秒前
谦让之云发布了新的文献求助10
10秒前
嗯哼发布了新的文献求助10
10秒前
小蘑菇应助明亮飞双采纳,获得10
11秒前
why发布了新的文献求助10
11秒前
粥粥完成签到 ,获得积分10
11秒前
郭小宝发布了新的文献求助10
11秒前
12秒前
13秒前
白日梦完成签到,获得积分20
13秒前
13秒前
大模型应助张张张采纳,获得10
13秒前
ding应助亭亭1234采纳,获得10
14秒前
14秒前
15秒前
15秒前
16秒前
善学以致用应助苏利文采纳,获得30
17秒前
17秒前
高分求助中
A new approach to the extrapolation of accelerated life test data 1000
ACSM’s Guidelines for Exercise Testing and Prescription, 12th edition 500
‘Unruly’ Children: Historical Fieldnotes and Learning Morality in a Taiwan Village (New Departures in Anthropology) 400
Indomethacinのヒトにおける経皮吸収 400
Phylogenetic study of the order Polydesmida (Myriapoda: Diplopoda) 370
基于可调谐半导体激光吸收光谱技术泄漏气体检测系统的研究 350
Robot-supported joining of reinforcement textiles with one-sided sewing heads 320
热门求助领域 (近24小时)
化学 材料科学 医学 生物 工程类 有机化学 生物化学 物理 内科学 纳米技术 计算机科学 化学工程 复合材料 遗传学 基因 物理化学 催化作用 冶金 细胞生物学 免疫学
热门帖子
关注 科研通微信公众号,转发送积分 3988786
求助须知:如何正确求助?哪些是违规求助? 3531116
关于积分的说明 11252493
捐赠科研通 3269766
什么是DOI,文献DOI怎么找? 1804771
邀请新用户注册赠送积分活动 881870
科研通“疑难数据库(出版商)”最低求助积分说明 809021