串联质谱技术在新生儿遗传代谢病筛查中的应用研究进展

Advances in the application of tandem mass spectrometry in the screening of neonatal inherited metabolic disorders

近年来随着科学技术的发展,在新生儿遗传代谢病筛查过程中实施串联质谱技术的应用效果十分显著,其具有高敏感度和高特异性,还具有筛查时间短和筛查病种丰富的优势。串联质谱技术在国内外已广泛应用于新生儿疾病筛查中,该技术不但扩展了新生儿疾病筛查谱,也为疾病筛查开辟了新的领域。随着筛查技术的发展,人们对新生儿遗传代谢病的认识、诊疗也在不断更新中。串联质谱技术是出生缺陷防控的重要措施,本文对筛查结果的影响因素进行了总结。随着人们对各种遗传代谢性疾病机制认识的加深和质谱技术的日益成熟,串联质谱技术将会对更多的疾病进行筛查和诊断,临床应用意义重大。

With the development of science and technology in recent years,the tandem mass spectrometry(TMS)shows significant effect in the screening of neonatal inherited metabolic disorders,which presents high sensitivity and specificity,costs less screening time and is applicable to screening of many diseases.TMS has been widely used in the screening of neonatal diseases at home and abroad,which not only expands the spectrum of neonatal disease screening,but also broads new fields for disease screening.With the progress of screening technology,the understanding and treatment of neonatal inherited metabolic disorders are also being updated.TMS becomes an important measure for birth defect prevention and control,and the factors influencing screening results are also summarized in this paper.With the deepening understanding of the mechanisms of various inherited metabolic disorders and the increasing breakthrough and advances of mass spectrometry technology,TMS will show greater clinical significance as it can be applied to screen and diagno se more diseases.