Application of Region 4 Stork system in the neonatal screening for very long chain acyl-CoA dehydrogenase deficiency by tandem mass spectrometry
10.3760/cma.j.cn114452-20200224-00116
- VernacularTitle:Region 4 Stork系统在串联质谱新生儿极长链酰基辅酶A脱氢酶缺乏症筛查中的应用
- Author:
Chao ZHANG
1
;
Zhenzhen HU
;
Jianbin YANG
;
Shiqiang SHANG
;
Xinwen HUANG
;
Rulai YANG
;
Lingwei HU
;
Yu ZHANG
;
Dingwen WU
;
Zhengyan ZHAO
Author Information
1. 浙江大学医学院附属儿童医院遗传与代谢科 国家儿童健康与疾病临床医学研究中心，杭州 310052
- From:
Chinese Journal of Laboratory Medicine
2020;43(10):978-983
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the application feasibility of Region 4 Stork (R4S) system, an international collaborative newborn screening data platform, combined with cut-off value analysis in the neonatal screening for very long chain acyl-CoA dehydrogenase deficiency (VLCADD) by tandem mass spectrometry (MS/MS).Methods:The retrospective study was performed in 2, 040 072 neonates screened by MS/MS in Neonatal Screening Center of Zhejiang Province, China from October 2013 to July 2018. Nine hundred and ten cases were determined and identified as suspected positive VLCADD neonates by traditional cut-off method of tandem mass spectrometry. The original data of these 910 screened neonates were further analyzed by R4S system. Based on clinical diagnosis and ACADL gene test results, the screening efficiency between two methods was statistically compared.Results:The data of 910 suspected VLCADD-positive cases interpreted by cut-off method were further analyzed by R4S system, and the positive interpretation was reduced to 238 cases (including 9 confirmed positive cases). A total of 16 different mutations were found in ACADL gene sequencing among the confirmed children. The screening false positive rate (FPR) declined from 0.44‰ (901/2 040 072) to 0.11‰ (229/2 040 072), the rate of positive predictive value (PPV) increased from 0.99% (9/910) to 3.78% (9/238), and the specificity increased from 99.96% (2 039 162/2 040 063) to 99.99% (2 039 834/2 040 063). There was a statistically significant difference between cut-off method alone and cut-off method combined R4S system analysis (χ2=393.5, P<0.05). Conclusions:The R4S system combined with cut-off method applied in VLCADD neonatal screening by MS/MS can effectively improve screening performance, reduce false positive rate, and has certain value in clinical application.
