河南省新生儿遗传代谢病串联质谱技术筛查结果分析

Analysis of screening results of neonatal genetic metabolic diseases in Henan province by tandem mass spectrometry

目的串联质谱技术(tandem mass spectrometry,MS/MS)受到临床医师高度重视,其有助于新生儿遗传代谢病(Inherited metabolic disease,IMD)筛查。本研究分析河南省120531名新生儿IMD初步筛查结果。方法选取2016-10-01-2018-02-28河南省各地市具有开展产科资质且与河南省新生儿筛查中心合作的医疗机构的120531名新生儿作为研究对象,以MS/MS技术进行IMD筛查,并对确诊患儿进行治疗与随访。结果120531名新生儿经串联质谱技术发现999例可疑阳性,可疑阳性率0.83%,对其中959例进行综合诊断,确诊51例IMD患儿,阳性预测值为5.32%,包含21例甲基丙二酸血症(methylmalonic acidemia,MMA)、19例高苯丙氨酸血症(hyperphenylalaninemia,HPA)、3例3-甲基巴豆酰辅酶A羧化酶(3-methylcrotonyl-coenzyme A carboxylase deficiency,3 MCC)、1例希特林(Citrin)蛋白、4例原发性肉碱缺乏症(primary carnitine deficiency,PCD)、1例短链酰基辅酶A脱氢酶缺乏症(short-chain acyl-Co A dehydrogenase,SCAD)、2例中链酰基辅酶A脱氢酶缺乏症(medium chain acyl-Co A dehydrogenase deficiency,MCADD);51例确诊IMD患儿中除6例因各种原因失访外,剩余45例均接受规范治疗及随访,诊治率为88.24%(45/51)。结论河南省IMD存在一定发病率,MS/MS技术应用于新生儿IMD筛查具有一定临床意义。

OBJECTIVE Tandem mass spectrometry(MS/MS)is highly valued by clinicians and contributes to the screening of neoinherited metabolic diseases(IMD).This study analyzes the initial screening results of 120531 neonatal IMD in Henan Province.METHODS Selecting 120531 newborns from medical institutions in Henan Province who have developed obstetric qualifications and cooperated with Henan Newborn Screening Center in October 1,2016 to February 28,2018 as the research object.IMD was performed by MS/MS technology.Screening and treatment and follow-up of confirmed children.RESULTS Totally 120531 neonates were found to be suspicious positive in 999 cases by serial mass spectrometry.The positive rate was 0.83%.A comprehensive diagnosis was made in 959 cases,and 51 cases of IMD were diagnosed.The positive predictive value was 5.32%,including 21 cases of methylmalonic acid.Methylmalonic acidemia(MMA),19 cases of hyperphenylalaninemia(HPA),3 cases of 3-methylcrotonyl-coenzyme A carboxylase deficiency(3 MCC)1,1 case of Citrin protein,4 cases of primary carnitine deficiency(PCD),and 1 case of short-chain acyl-co a dehydrogenase short-chain acyl-Co A dehydrogenase(SCAD),two cases of medium chain acyl-Co A dehydrogenase deficiency(MCADD).Except for 6 cases of IMD diagnosed in 6 cases,the remaining 45 cases were lost for various reasons.After standard treatment and follow-up,the diagnosis rate was 88.24%(45/51).CONCLUSION There is a certain incidence rate of IMD in Henan Province,and MS/MS technology has certain clinical significance in the screening of neonatal IMD.