海南省少数民族地区新生儿有机酸血症筛查结果分析  

Analysis of screening results of neonatal organic acidemia in minority areas of Hainan province

作　　者：许海珠 温英梅 赵振东 黄慈丹 王娇 XU Haizhu;WEN Yingmei;ZHAO Zhendong;HUANG Cidan;WANG Jiao(Neonatal Disease Screening Center of Hainan Women and Children’s Medical Center,Haikou,Hainan 570206,China)

机构地区：[1]海南省妇女儿童医学中心新生儿疾病筛查中心,海南海口570206

出　　处：《中国优生与遗传杂志》2023年第7期1491-1495,共5页Chinese Journal of Birth Health & Heredity

基　　金：海南省临床医学中心建设项目资助(琼卫医函[2021]75号)。

摘　　要：目的了解海南省少数民族地区新生儿有机酸血症的发病率,为海南预防出生缺陷提供依据。方法海南省少数民族地区2016年9月至2022年3月出生的新生儿干血斑样本46539例,对初筛阳性者召回复查,对复查阳性者进行尿有机酸分析,并进一步基因检测以明确诊断。结果筛查46539例样本,初筛阳性804例,初筛阳性率1.73%(804/46539);确诊有机酸血症8例,总发病率1/5817(8/46539)。确诊8例有机酸血症有7种疾病类型,分别是:甲基丙二酸血症(MMA)2例、3-甲基巴豆酰辅酶A羧化酶缺乏症(MCCD)、3-甲基-戊烯二酸尿症Ⅰ型(MGA)、戊二酸血症Ⅰ型(GA-Ⅰ)、MMA合并同型半胱氨酸血症、多种羧化酶缺乏症(MCD)、丙二酸血症(MAD)各1例。本地区少数民族新生儿有机酸血症整体发病率(1/9308)高于汉族(1/15513)。结论海南省少数民族地区新生儿有机酸血症发病率较高,为1/5817。建议在全省范围内开展新生儿遗传代谢病串联质谱筛查,为海南省出生缺陷防治工作提供参考依据。Objective The main objective of this study was to understand the incidence of neonatal organic acidemia in minority areas of Hainan province and provide a basis for the prevention of birth defects in Hainan province.Methods The method used in our study was tandem mass spectrometry to screen 46539 neonatal dry blood spot samples from neonates born between September 2016 and March 2022,The first-time positive neonates were re-examined,after which the second time positive ones were analyzed by urine GC-MS gas phase mass spectrometry,and further genetic detection was performed to confirm the diagnosis.Results Among 46539 samples,804 were positive in the initial screening,and the positive rate was 1.73%(804/46539).Eight cases of organic acidemia were confirmed,with a total incidence of 1/5817(8/46539).There were 7 disease types in 8 cases of organic acidemia,which were:2 cases of methylmalonic acidemia(MMA),1 case of 3-methylcrotonyl-Coenzyme A carboxylase deficiency(MCCD),1 case of 3-methyl-pentadionic aciduria type I(MGA),Glutaricemia I(GA-I)and MMA accompanied by homocysteinemia,multiple carboxylase deficiency(MCD)and malonic acidemia(MAD)in one case each.The overall incidence of organic acidemia in newborns of ethnic minorities(1/9308)was higher than that of Han nationality(1/15513).Conclusion The incidence of organic acidemia neonates in ethnic minority areas of Hainan province is relatively high(1/5817).It is suggested to carry out tandem mass spectrometry screening of newborn genetic metabolic diseases in the whole province to provide reference for the prevention of birth defects in Hainan.

关 键 词：新生儿筛查 干血斑 有机酸血症 串联质谱 遗传代谢病 

分 类 号：R722.1[医药卫生—儿科]