新疆地区新生儿遗传代谢病串联质谱筛查的结果分析  

Analysis of the results of neonatal inherited metabolic disorders screening using tandem mass spectrometry in Xinjiang

作　　者：陈琪 朱静潆 冯子奕 韩丽 何金芳 薛淑媛 CHEN Qil;ZHU Jingying;FENG Ziyi;HAN Li;HE Jinfang;XUE Shuyuan(School of Medicine,Shihezi University,Shihezi,Xinjiang 832000,China;Prenatal Diagnosis Center,Urumqi Maternal and Child Healthcare Hospital,Urumqi,Xinjiang 830000,China)

机构地区：[1]石河子大学医学院,新疆石河子市832000 [2]乌鲁木齐市妇幼保健院产前诊断中心,新疆乌鲁木齐市830000

出　　处：《中国优生与遗传杂志》2024年第4期869-873,共5页Chinese Journal of Birth Health & Heredity

基　　金：新疆维吾尔自治区“青年科技人才-乡村振兴”项目(WJWY-XCZX202226)。

摘　　要：目的分析新疆地区新生儿遗传代谢病串联质谱筛查结果,获得新疆地区新生儿遗传代谢病高发病种及疾病谱。方法采用串联质谱非衍生化法检测试剂盒,对新疆地区41690例新生儿进行遗传代谢病筛查,将初次筛查阳性的患儿召回复查,两次筛查均为阳性的患儿,需结合临床表现、生化及基因检测进行疾病诊断。结果41690例新生儿中初筛阳性1460例,初筛阳性率3.50%;召回1420例,召回阳性数为127例,最终确诊36例,总发病率为1/1158,阳性预测值为2.50%。36例患儿包含25例氨基酸代谢病(69.44%),2例脂肪酸代谢病(5.56%),9例有机酸代谢病(25.00%)。其中高苯丙氨酸血症最多,检出率1/1668,其次为甲基丙二酸血症,检出率1/8338。结论利用串联质谱筛查技术能够极大地提高筛查效率,实现早发现、早诊断、早治疗,提高患儿预后,对新疆地区出生缺陷防控策略的制订提供数据基础。Objective To analyse the results of neonatal inherited metabolic disorders screening using tandem mass spectrometry in Xinjiang and to obtain neonatal inherited metabolic disorders of high incidence and disease spectrum of the disorders in Xinjiang.Methods Tandem mass spectrometry non-derivatization detection kit was used to screen 41690 newborns in Xinjiang.Newborns who were positive for the first screen were recalled for recall and reexamination,and newborns who were positive in both screens needed to make disease diagnosis combined with clinical manifestations,biochemical and genetic tests.Results Among the 41690 neonates,1460 cases were positive in primary screening,with a positive rate of 3.50%.Among them,1420 cases were recalled,of which 127 neonates were positive for re-screening,and 36 cases were finally confirmed,with a total incidence rate of 1/1158 and a positive predictive value of 2.50%.Among the 36 children,25(69.44%)had amino acid metabolism disorders,2(5.56%)fatty acid metabolism disorders,and 9(25.00%)organic acid metabolism disorders.Among them,hyperphenylalanineemia was the most abundant,with a detection rate of 1/1668,followed by methylmalonic acidemia,with a detection rate of 1/8338.Conclusion Tandem mass spectrometry screening technology can greatly improve the screening efficiency,achieve early detection,early diagnosis and early treatment,improve the prognosis of children,and provide a data basis for the formulation of birth defect prevention and control strategies in Xinjiang.

关 键 词：遗传代谢病 串联质谱技术 新生儿筛查 

分 类 号：R722.1[医药卫生—儿科]