Quality evaluation of tandem mass spectrometry screening for neonatalinherited metabolic diseases in Zhejiang Province from 2009 to 2021
CHEN Chi, XU Yihong, WU Cuilu, XU Yanhua, MAO Huaqing, YANG Rulai
Department of Genetics and Metabolism, Children's Hospital Affiliated to Zhejiang University School of Medicine(National Clinical Research Center for Child Health), Hangzhou, Zhejiang 310052, China
Abstract：Objective To evaluate the quality of tandem mass spectrometry (MSMS) screening for neonatal inherited metabolic diseases in Zhejiang Province from 2009 to 2021. Methods The data pertaining to MSMS screening for neonatal inherited metabolic diseases in Zhejiang Province from 2009 to 2021 were collected from the database created by Zhejiang Provincial Center for Neonatal Disease Screening. The percentage of MSMS screening, percentage of recall of suspected screening-positive infants and incidence of neonatal inherited metabolic diseases were analyzed retrospectively to evaluate the quality of MSMS screening for inherited metabolic diseases. Results A total of 4 706 916 newborns were screened among 8 297 039 live births by MSMS in Zhejiang Province from 2009 to 2021, and the percentage of MSMS screening increased from 5.48% to 97.54%, with a mean percentage of 56.73%. Of 46 838 suspected screening-positive infants, 45 527 infants were recalled, and the percentage of recall increased from 94.57% to 98.62%, with a mean percentage of 97.20%. A total of 1 038 infants were definitively diagnosed with inherited metabolic diseases in Zhejiang Province from 2009 to 2021, with an overall incidence rate of 1/4 535, and the incidence rates of amino acid metabolic disorder, fatty acid oxidation metabolic disorder and organic acid metabolic disorder were 1/11 767, 1/13 763 and 1/15 902, respectively. Of the 11 cities in Zhejiang Province, the highest percentage of tandem mass spectrometry screening for inherited metabolic diseases was found in Hangzhou City (83.01%), and the highest percentage of recall of suspected screening-positive infants was seen in Zhoushan City (99.08%). Conclusions A high percentage of MSMS screening for neonatal inherited metabolic diseases was observed in Zhejiang Province from 2009 to 2021; however, there was a region-specific percentage of screening, and the recall of suspected screening-positive infants remains to be improved.
陈迟, 徐益红, 吴璀璐, 徐艳华, 毛华庆, 杨茹莱. 2009—2021年浙江省新生儿遗传代谢病串联质谱法筛查工作质量评价[J]. 预防医学, 2022, 34(8): 765-770.
CHEN Chi, XU Yihong, WU Cuilu, XU Yanhua, MAO Huaqing, YANG Rulai. Quality evaluation of tandem mass spectrometry screening for neonatalinherited metabolic diseases in Zhejiang Province from 2009 to 2021. Preventive Medicine, 2022, 34(8): 765-770.
[1] 刘齐,武红梅,刘翼飞,等.串联质谱在新生儿遗传代谢疾病筛查中的应用[J].中华检验医学杂志,2019,42(6):403-406. LIU Q,WU H M,LIU Y F,et al.Application of tandem mass spectrometry in newborn genetic metabolic disease screening[J].Chin J Lab Med,2019,42(6):403-406. [2] OMBRONE D,GIOCALIERE E,FORNI G,et al.Expanded newborn screening by mass spectrometry:new tests,future perspectives[J].Mass Spectrom Rev,2016,35(1):71-84. [3] MOAT S J,GEORGE R S,CARLING R S.Use of dried blood spot specimens to monitor patients with inherited metabolic disorders[J/OL].Int J Neonatal Screen,2020,6(2)[2022-06-06].https://doi.org/10.3390/ijns6020026. [4] 中华人民共和国卫生部临床检验中心新生儿遗传代谢疾病筛查室间质量评价委员会.新生儿疾病串联质谱筛查技术专家共识[J].中华检验医学杂志,2019,42(2):89-97. Interlaboratory Quality Evaluation Committee of Neonatal Inherited Metabolic Disease Screening,Clinical Test Center,Ministry of Health of the People's Republic of China.Expert consensus on tandem mass spectrometry for neonatal disease screening[J].Chin J Lab Med,2019,42(2):89-97. [5] 中华人民共和国国家卫生和计划生育委员会临床检验中心新生儿遗传代谢病筛查实验室专家组.新生儿遗传代谢病筛查质量指标共识[J].中华检验医学杂志,2017,40(5):352-355. Expert Group of Neonatal Inherited Metabolic Disease Screening Laboratory,Clinical Test Center,National Health and Family Planning Commission of the People's Republic of China.Consensus on indicators of neonatal inherited metabolic disease screening quality[J].Chin J Lab Med,2017,40(5):352-355. [6] 赵正言,顾学范.新生儿遗传代谢病筛查[M].北京:人民卫生出版社,2015. ZHAO Z Y,GU X F.Newborn genetic metabolic diseases screening[M].Beijing:People's Medical Publishing House,2015. [7] HE F,YANG R,HUANG X,et al.Reference standards for newborn screening of metabolic disorders by tandem mass spectrometry:a nationwide study on millions of Chinese neonatal populations[J/OL].Front Mol Biosci,2021,8[2022-06-06].https://doi.org/10.3389/fmolb.2021.719866. [8] 何法霖,林博,王薇,等.我国新生儿遗传代谢病串联质谱切值调查分析[J].检验医学,2020,35(5):487-491. HE F L,LIN B,WANG W,et al.Investigation on the cut-off values of tandem mass spectrometry for neonatal inherited metabolic diseases in China[J].Lab Med,2020,35(5):487-491. [9] 李强,周莹,徐艳华,等.1999—2018年浙江省新生儿遗传代谢病筛查情况分析[J].预防医学,2019,31(11):1081-1085. LI Q,ZHOU Y,XU Y H.Analysis on neonatal screening for inherited metabolic diseases in Zhejiang Province from 1999 to 2018[J].Prev Med,2019,31(11):1081-1085. [10] 龚易晓,宋晓红,徐娟,等.新生儿遗传代谢病串联质谱筛查病种探讨[J].中国公共卫生,2022,38(1):20-24. GONG Y X,SONG X H,XU J,et al.Neonatal genetic metabolic disease entities ought to be included in tandem mass spectrometry screening in China[J].Chin J Public Health,2022,38(1):20-24. [11] 顾学范,韩连书,余永国.中国新生儿遗传代谢病筛查现状及展望[J].罕见病研究,2022,1(1):13-19. GU X F,HAN L S,YU Y G.Current status and prospects of screening for newborn hereditary metaboolic disease[J].J Rare Dis,2022,1(1):13-19. [12] 郑新灵,叶少燕,祝莎莎,等.台州市新生儿葡萄糖-6-磷酸脱氢酶缺乏症筛查资料分析[J].预防医学,2020,32(2): 187-189. ZHENG X L,YE S Y,ZHU S S,et al.Retrospective analysis of glucose-6-phosphate dehydrogenase deficiency in Taizhou newborns[J].Prev Med,2020,32(2):187-189. [13] 封志纯,张万巧.遗传代谢病筛查诊断系统的现状及未来发展[J].中华围产医学杂志,2021,24(2):81-84. FENG Z C,ZHANG W Q.Screening and diagnosis system for inherited metabolic diseases:present and future developments[J].Chin J Perinat Med,2021,24(2):81-84. [14] 国家卫生健康委员会临床检验中心新生儿遗传代谢病筛查室间质评委员会.新生儿遗传代谢病筛查随访专家共识[J].中华医学遗传学杂志,2020,37(4):367-372. Committee for Proficiency Testing,Neonatal Genetic Metabolic Disease Screening Center,National Health Commission of China. Expert consensus on the follow-up of newborn screening for neonatal genetic and metabolic diseases[J].Chin J Med Genet,2020,37(4):367-372. [15] 鄢慧明,贾政军,刘静,等.湖南省565 182例串联质谱新生儿疾病筛查分析[J].中华实用儿科临床杂志,2019,34(20):1541-1545. YAN H M,JIA Z J,LIU J,et al.Tandem mass spectrometry screening of 565 182 newborns for inherited metabolic diseases in Hunan province[J].Chin J Appl Clin Pediatr,2019,34(20):1541-1545. [16] 刘小瑜,吴维,石玲.梅州市新生儿遗传代谢病串联质谱筛查及随访结果分析[J].右江医学,2021,49(11):834-838. LIU X Y,WU W,SHI L.Analysis of tandem mass spectrometry screening and follow-up results of neonatal genetic metabolic disorders in Meizhou[J].Chin Youjiang Med J,2021,49(11):834-838. [17] 纪伟,田国力,王燕敏,等.上海部分地区新生儿遗传代谢病筛查和随访分析[J].中华新生儿科杂志,2021,36(2):10-15. JI W,TIAN G L,WANG Y M,et al.Newborn screening and prognosis of inherited metabolic disorders in Shanghai[J].Chin J Neonatol,36(2):10-15. [18] 唐诚芳,谭敏沂,谢婷,等.广州地区新生儿遗传代谢病串联质谱法筛查结果及筛查性能评估[J].浙江大学学报(医学版),2021,50(4):463-471. TANG C F,TAN M Y,XIE T,et al.Screening for neonatal inherited metabolic disorders by tandem mass spectrometry in Guangzhou[J].J Zhejiang Univ(Med Sci),2021,50(4):463-471. [19] 汪玉锋. 菏泽地区263 027例新生儿遗传代谢病筛查及治疗随访情况分析[J].中国优生与遗传杂志,2021,29(8):1192-1194. WANG Y F.Analysis of screening and follow-up treatment of genetic metabolic diseases in 263 027 neonates in Heze city[J].Chin J Birth Health Hered,2021,29(8):1192-1194.
