关键词: 串联质谱技术, 筛查, 高危新生儿, 遗传代谢性疾病

Abstract: Objective To analyze the value of tandem mass spectrometry in screening genetic metabolic diseases in high-risk neonates．Methods From January 2023 to March 2024,a total of 995 high-risk neonates admitted to the neonatal department of our hospital were selected as the research subjects,tandem mass spectrometry was used for screening,and the screening results were analyzed．Results During the study period,83 of the 995 neonates were positive in the initial screening,5 cases were finally confirmed,78 cases were false positives,and 912 cases were true negatives,with a positive rate of 8.34%（83/995）and a true positive rate of 6.02%（5/83）．The confirmed cases included 4 cases of urea cycle disorder and hyperammonemia（2 cases were confirmed with ornithine carbamyltransferase deficiency by whole exome core family sequencing analysis,and the source of the gene variant was de novo）,and 1 case of maple syrup urine disease（genetic diagnosis,the source of the mutation was father and mother）．Conclusions In the screening of genetic metabolic diseases in high-risk neonates,the use of special examinations in tandem mass spectrometry can timely and effectively diagnosis genetic metabolic diseases,therefore timely control the progression of disease and reduce mortality and disability rates,consequently improve the quality of population and life．At the same time,we can provide guidance for good birth and good parenting by carrying out consultation to high-risk genetic metabolic diseases families．

Key words: tandem mass spectrometry, screening, high risk neonates, genetic metabolic diseases