孕中期三联筛查唐氏综合征和18三体综合征的临床价值  

Clinical value of serum triple-marker(AFP、uE_3、Total-βHCG) screening in second trimester pregnancy for prediction of Down syndrome and Trisomy 18 syndrome

作　　者：罗军[1] 沈觎忱[1] 唐振华[1] 

机构地区：[1]上海交通大学附属国际和平妇幼保健院检验科,上海200030

出　　处：《诊断学理论与实践》2011年第3期255-259,共5页Journal of Diagnostics Concepts & Practice

摘　　要：目的:采用血清三联[甲胎蛋白(AFP)、游离雌三醇(uE3)、总β人绒毛膜促性腺激素(Total-βHCG)]筛查19 730名孕中期妇女,以探讨三联筛查对唐氏综合征和18三体综合征诊断的临床价值。方法:检测2008年5月至2010年4月间19 730名单胎孕中期妇女的血清AFP、uE3、Total-βHCG水平,取其中位数倍数(multiple of median,MoM),并结合孕妇体重,计算胎儿发生唐氏综合征及18三体综合征的风险率。根据唐氏综合征和预期分娩年龄(expected date of delivery,EDD)为35.5岁时的自然发生率约为1∶380,本研究将唐氏综合征三联筛查的临界值(cut-off)设定为1∶380,将18三体综合征筛查的临界值设定为1∶334。对风险率大于临界值的孕妇行羊水细胞染色体分析。结果:19 730名孕妇中,唐氏综合征风险率大于临界值者有1 130名,阳性率为5.73%,对1 130名唐氏综合征风险率大于临界值的孕妇进行羊水细胞染色体核型分析,发现有6例胎儿为唐氏综合征,其中EDD<35.5岁以下者有4例;唐氏综合征三联筛查风险率小于临界值的18 600名孕妇中共产下4例唐氏综合征患儿,假阴性率为40.0%(6例检出,4例漏检),其中EDD<35.5岁的孕妇有3例;18三体综合征筛查风险率大于临界值者有102名,占0.52%,经羊水细胞染色体核型分析,结果有3例胎儿为18三体综合征,18三体综合征筛查阴性的孕妇中无18三体综合征患儿出生。结论:孕中期行血清三联(AFP、uE3、Total-βHCG)筛查,对于EDD<35.5岁的孕妇有较高的胎儿唐氏综合征和18三体综合征筛出率,但也漏检了3例EDD<35.5岁的孕妇。对于漏检孕妇的数据进行回顾分析可发现,75%的漏检孕妇筛查结果提示风险率大于1∶1 000,而如血清三联筛查采用临界值为1∶700,则能使将检出唐氏综合征胎儿数提高到9例。Objective To analyze the clinical value of serum triple-marker（AFP、uE3、Total-βHCG） screening in second trimester pregnancy for the prediction of Down syndrome and Trisomy 18 syndrome.Methods Maternal blood serum triple-marker（AFP,uE3 and Total-βHCG） screening was performed in 19 730 normal singleton pregnancies from May 2008 to April 2010,risk rates of Down syndrome and Trisomy 18 syndrome were calculated by its multiple of median（MoM） value in association with the weight of pregnant woman.According to the natural prevalence of Down syndrome in pregnant women with an expected date of delivery（EDD） age 35.5 years old is around 1∶380,the cut-off value of Down syndrome was set at 1∶380,and the cut-off value of Trisomy 18 syndrome was set at 1∶344.Pregnancies with risk rate higher than the cut-off value accepted amniocentesis and karyotype analysis.Results There were 1 130 pregnancies with a risk rate of Down syndrome higher than the cut-off value,the positive rate of triple-marker screening was 5.73%.Amniocentesis and karyotype analysis showed that there were 6 Down syndromes,4 were pregnancies with an expected date of delivery lower than 35.5 years old.Four Down syndromes were found among the 18 600 pregnancies whose risk rate of Down syndrome was lower than the cut-off value,the false negative rate was 40.0%.Of them 3 were pregnancies with an expected date of delivery lower than 35.5 years old.There were 102 pregnancies with a risk rate of Trisomy 18 syndrome higher than the cut-off value,the positive rate of triple-marker screening was 0.52%.Amniocentesis and karyotype analysis showed that there were 3 Trisomy 18 syndromes.No false negative was found.Conclusions The detection rate of Down syndrome by triple-marker screening is showing a fairly high screen rate for pregnancies with EDD lower than 35.5 years old.However,there is a false negative rate of 40.0%.If 1∶700 is taken as the cut-off value of risk rate of Down syndrome then the detection rate will be increased,however,the false

关 键 词：三联筛查 母体血清筛查 唐氏综合征 18三体综合征 羊水细胞染色体核型分析 

分 类 号：R715.2[医药卫生—妇产科学]