血浆同型半胱胺酸的测定在唐氏筛查中的应用  

The application of plasma homocysteine detection in Down double screening

作　　者：王文[1] 刘福民[1] 严晓南[1] 

机构地区：[1]江苏省徐州医学院附属医院生殖遗传研究所,221002

出　　处：《中外妇儿健康（学术版）》2011年第5期33-34,共2页

摘　　要：目的:研究血浆中同型半胱胺酸(homocysteine,HCY)水平与唐氏综合征(Down syndrome,DS)的发生关系。方法:选择100例生育过DS患儿的汉族母亲为病例1组,100例相匹配的汉族母亲为对照1组,选择100例通过二联筛查(检测孕妇血清中的甲胎蛋白(AFP)和人绒毛膜促性腺激素β亚基(β-hCG)作为DS筛查的指标)筛查出的DS高危单胎孕妇为病例2组,100例正常的单胎孕妇为对照2组,化学发光法检测血浆中HCY的水平。结果:病例1组的血浆HCY浓度(9.04±3.85μmol/L)较对照1组(6.53±2.06μmol/L)增高(P<0.01)。筛查高危组孕妇与对照组孕妇血浆HCY水平无统计学差异(P>0.05)。结论:HCY代谢异常可能使DS发生风险增高。Objective：To Investigate whether the plasma homocysteine（HCY） is associated with Down syndrome（DS）.Methods 100 chinese mothers who gave birth to babies with DS were chosen as case group 1,and 100 matched chinese mothers were chosen as control group 1.100 singleton pregnant women with a risk of DS through double screening（measuring maternal serum levels of alpha—fetoprotein（AFP） and total beta—human chorionic gonadotrophin（β—hCG） as markers for DS） were chosen as case group 2,100 normal singleton pregnant women were chosen as control group 2,plasma homocysteine（HCY） was measured by chemiluminesence.Results The mean plasma HCY concentration（9.04±3. 85μmol/L） of case group 1 was significantly different from that of controls（6.53×2.06μmol/L）（P0.01）,The mean plasma HCY concentration did not significantly differ between pregnant women with a risk of DS through double screening and control ones（P0.05）.Conclusion The abnormal HCY pathway can increase the risk of DS.

关 键 词：唐氏综合症 同型半胱酸 二联筛查 

分 类 号：R742.89[医药卫生—神经病学与精神病学]