摘要
遗传代谢病是一类表现为代谢异常的出生缺陷。生化检查是检测代谢异常的传统手段,其中串联质谱技术可高效实现一种实验检测多种疾病,对新生儿筛查具有重要意义。由于筛查的仪器、试剂和分析软件大量依赖进口,筛查成本高,加之不同地区操作水平和技术规范存在差异,我国新生儿串联质谱筛查存在检测质量不均一、人工初筛假阳性率高、筛诊治脱节等问题。针对这些问题,“生殖健康及重大出生缺陷防控研究”十三五国家重点研发计划项目“新生儿遗传代谢病筛查诊断集成化产品自主研发”集合产业创新技术力量,从串联质谱设备和配套试剂开发入手,建立了从前处理、质谱分析到数据人工智能化诊断的国产化新筛产品体系。初筛阳性率降低至0.5%以下,减轻了召回负担,提升了诊断准确性。在遗传诊断产品研发上,基于微流控芯片技术、核酸质谱技术和高通量测序技术,分别形成可覆盖中低、中高、高通量等不同通量需求的基因诊断产品,为遗传代谢病明确诊断提供有利手段。立足于筛诊实践经验和研究成果,项目组技术和临床专家形成了关于串联质谱筛查技术操作规范和多种遗传代谢病诊疗的专家共识。从而从技术、产品、标准和推广应用上全方位构建起一套为新生儿遗传代谢病精准防控服务的筛查诊断体系。
Inherited metabolic disorder(IMD)is a group of birth defects,which is characterized by metabolic abnormalities.Biochemical test is the traditional analyzing method for metabolic abnormality,in which tandem mass spectrometry plays a vital role in the neonatal screening and diagnosis of IMD because of the high performance for the detection of multiple disease types in one test.Due to the high cost in screening caused by high price of the importation of instruments,reagents and analysis software,and combined with the regional technical diversity,new born screening(NBS)via tandem mass spectrometry in China presents with multiple problems,including uneven test quality,high false positive rate of artificial primary screening and the disconnection between diagnosis and treatment,etc.With considerations of the above problems,as one of the“Researches on the reproductive health and prevention and control of major birth defects”National Key Research and Development Projects in the 13^(th) five year plan,“Innovative Research and Development of Integrated Products for Screening and Diagnosis of Neonatal Inherited Metabolic Disorders”united industrial innovative technical forces,started the development of mass spectrometry equipment and analytical reagents,and formed domestic product sets covering processes from pre-processing,mass spectrometry analysis to artificial intelligent diagnosis for NBS.A better diagnostic accuracy has been achieved with the lower positive rate of primary screening less than 0.5%,which has reduced the clinical burden of recall.As for genetic diagnosis development,products based on microfluidic chip,nucleic acid mass spectrometry and high-throughput sequencing technologies have been produced to provide favorable means for precise diagnosis,which meet various clinical requirements for multiplex detection with mid-low,mid-high and high throughput,respectively.Established on practical experiences and research findings from screening and diagnosis,clinical and technical experts in the projects hav
作者
吉栩
张春燕
李锦
李晶
沈鸣
田亚平
JI Xu;ZHANG Chunyan;LI Jin;LI Jing;SHEN Ming;TIAN Yaping(Research Center of Translational Medicine,Medical Innovation Research Division of Chinese PLA General Hospital,Beijing 100853,China;Research Center of Birth Defect Prevention Technology, Medical Innovation Research Division of Chinese PLA General Hospital, Beijing 100853, China)
出处
《标记免疫分析与临床》
CAS
2021年第10期1621-1625,共5页
Labeled Immunoassays and Clinical Medicine
基金
国家重点研发项目(编号:2017YFC1001700)。
关键词
遗传代谢病
新生儿筛查
串联质谱
人工智能诊断
遗传诊断
Inherited metabolic disorders
New born screening
Tandem mass spectrometry
Artificial intelligent diagnosis
Genetic diagnosis
