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  

Quality evaluation of tandem mass spectrometry screening for neonatal inherited metabolic diseases in Zhejiang Province from 2009 to 2021

作　　者：陈迟[1] 徐益红[1] 吴璀璐 徐艳华[1] 毛华庆[1] 杨茹莱[1] 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)

机构地区：[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),浙江杭州310052

出　　处：《预防医学》2022年第8期765-770,共6页CHINA PREVENTIVE MEDICINE JOURNAL

基　　金：浙江省重点研发计划(2021C03099)。

摘　　要：目的评价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。方法通过浙江省新生儿疾病筛查中心新生儿疾病筛查数据库收集2009—2021年新生儿遗传代谢病串联质谱法筛查资料,回顾性分析串联质谱法筛查率、疑似阳性召回率和遗传代谢病发病率等,评价新生儿遗传代谢病串联质谱法筛查工作质量。结果2009—2021年浙江省活产儿8297039人,采用串联质谱法筛查4706916人,筛查率从5.48%上升至97.54%,平均为56.73%;筛查检出疑似阳性患儿46838例,召回45527例,召回率从94.57%上升至98.62%,平均为97.20%。累计确诊遗传代谢病1038例,总发病率为1/4535;其中氨基酸代谢障碍(AAD)400例,发病率为1/11767;脂肪酸氧化障碍(FAOD)342例,发病率为1/13763;有机酸代谢障碍(OAD)296例,发病率为1/15902。浙江省11个市串联质谱法筛查率杭州市最高,为83.01%;疑似阳性召回率舟山市最高,为99.08%。结论2009—2021年浙江省新生儿遗传代谢病串联质谱法筛查率较高,但各市串联质谱法筛查开展不平衡,疑似阳性召回率有待进一步提高。Objective To evaluate the quality of tandem mass spectrometry(MSMS)screening for neonatal inherited met⁃abolic diseases in Zhejiang Province from 2009 to 2021.Methods The data pertaining to MSMS screening for neona⁃tal 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 4706916 newborns were screened among 8297039 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 46838 suspected screening positive infants,45527 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 1038 infants were definitively diagnosed with inherited metabolic diseases in Zhejiang Province from 2009 to 2021,with an overall incidence rate of 1/4535,and the incidence rates of amino acid metabolic disorder,fatty acid oxidation metabolic disorder and organic acid metabolic disorder were 1/11767,1/13763 and 1/15902,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.

关 键 词：新生儿筛查 遗传代谢病 串联质谱法 筛查率 召回率 

分 类 号：R722.11[医药卫生—儿科]