Application value of tandem mass spectrometry combined with high-throughput sequencing technology in the screening and diagnosis of neonatal genetic metabolic disease(IEM)
Application value of tandem mass spectrometry combined with high-throughput sequencing technology in the screening and diagnosis of neonatal genetic metabolic disease(IEM)
Objective:To explore the application value of tandem mass spectrometry combined with high-throughput sequencing technology in the screening and diagnosis of neonatal genetic metabolic disease(IEM).Methods:Clinical data on 3,625 newbo-rns screened by IEM received by our hospital from January 2023 to October 2023 were retrospectively analyzed,basic data on IEM patients and normal newborns were compared,and the variation of IEM newborns was analyzed.Results:There were 15 cases of genetic variants in this group of newborns;the difference in basic data between IEM patients and normal newborns was not statistically significant(P＞0.05);among 15 newborns with IEM-related gene variants,1 case of ACAD8 gene complex hybrid variant and 1 SLC22A5 gene mutation carrier.The former was diagnosed as isobutyl-CoA dehydrogenase deficiency;the latter was diagnosed as primary carnitine deficiency;The level of free carnitine in 3 neonates with SLC22A5 mutation(7.80± 1.26)μmol/L was significantly lower than that in 3622 neonates without SLC22A5 mutation(18.95±3.25)μmol/L(P＜0.05);Levels of succinyl carnitine+3-hydroxyisovaleryl base in 4 neonates with MCC1/MCC2 variant(0.48±0.08)μmol/L was significantly higher than the level of succinyl carnitine+3-hydroxyisovaleryl base(0.17±0.03)μmol/L in 3621 neonates without MCC1/MCC2 variation(P＜0.05).Conclusion:Tandem mass spectrometry combined with high-throughput sequen-cing technology can achieve accurate application results in neonatal IEM screening and diagnosis.For patients carrying genetic mutations,diagnosis work should be carried out in combination with their clinical symptoms to avoid missed diagnosis.
关键词
新生儿/遗传代谢病/串联质谱/高通量测序技术
Key words
Neonates/Genetic metabolic disease/Tandem mass spectrometry/High-throughput sequencing technology
维普
万方数据