孕早期母血清产前筛查结果分析  

Analysis on the results of prenatal screening during the fi rst trimester of pregnancy

作　　者：刘芙蓉[1] 郝胜菊[1] 郑雷[1] 王兴[1] 闫有圣[1] 

机构地区：[1]甘肃省妇幼保健院医学遗传学中心,兰州730050

出　　处：《中国优生与遗传杂志》2015年第11期70-72,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的评价孕早期产前筛查在降低出生缺陷中的实用性和可行性。方法利用时间分辨免疫荧光法检测909例妊娠早期(孕9-14w)孕母血清中妊娠相关蛋白A(PAPP-A)和游离人绒毛膜促性腺激素β亚基(Free-h CGbβ)的浓度,结合孕早期(11-13w+6天)超声测定胎儿颈部透明带厚度(NT)值,综合孕妇的年龄、体重、孕周等参数,利用评估软件Life Cycle3.2,计算出胎儿患唐氏综合症和爱德华综合症的风险率,高风险孕妇经产前诊断确诊。结果 909例孕妇中筛出高风险共47例,阳性筛查率为5.17%,对高风险孕妇行产前诊断,确诊异常核型5例,阳性预测率为10.6%,检出唐氏综合症患儿3例,爱德华综合症患儿1例,特纳综合症患儿1例。结论孕早期产前筛查可有效筛出染色体异常胎儿。Objective：To explore the availability and feasibility of prenatal screening during the first trimester of pregnancy in reducing birth defects. Methods：Time resolved fluorescence method was applied to evaluate serum PAPP-A,free-h CGbβand nuchal translucency（NT）in 909 cases during 9-14 gestational weeks,and the results combined with age,weight and gestational weeks of the pregnant women,using Life Cycle3.2 evaluation software,the risks of the fetus with Down syndrome and Edward syndrome were evaluated,and prenatal diagnosis was carried out for the high risk population. Results：A total of 47 cases were diagnosed as high risk population of target diseases in 909 pregnant women,and the positive rate of screening was 5.17%. Among them,high risk pregnant women accepted fluffy prenatal diagnosis,5 cases of abnormal karyotype were confirmed,the positive predictive rate was 10.6%. Including 3 cases with Down syndrome were checked,one case with Edward syndrome were diagnosedm,one case with Turner syndrome were confirmed. Conclusion：It effectively that prenatal screening during the first trimester of pregnancy can screen out the chromosomal abnormalities fetus.

关 键 词：孕早期 染色体异常 妊娠相关蛋白A 游离人绒毛膜促性腺激素β亚基 胎儿颈部透明带厚度 

分 类 号：R714.5[医药卫生—妇产科学]