孕中期母血清标记物在唐氏综合征产前筛查中的应用

目的:探讨妊娠中期血清标记物甲胎蛋白(AFP)和人绒毛膜促性腺激素游离β亚基(Free-β-HCG)在妊娠中期唐氏综合征产前筛查中的应用价值。方法:应用时间分辨免疫荧光法对天津市2009年1月～2010年1月75 876例孕15～20+6周妇女进行血清AFP和Free-β-HCG含量检测,结合年龄、孕周、单双胎、体质量、既往异常妊娠史、有无糖尿病、吸烟史等因素,通过Life Cycle 3.0版软件进行风险率评估,对高风险妊娠妇女进行遗传咨询,在知情同意的情况下进行羊膜腔穿刺及B超检查以确诊。结果:75 876例妊娠妇女中,筛出染色体异常高风险妊娠妇女4 241例,其中1 036例接受羊膜腔穿刺产前诊断,发现唐氏综合征(DS)16例、18-三体综合征2例、其他胎儿染色体异常9例;27例中有18例<35岁;建立了该地区妊娠中期两项筛查指标的中位数值。DS胎儿母亲血中AFP水平较正常孕妇女降低,Free-β-HCG水平增加;18-三体胎儿的母亲血中AFP和Free-β-HCG水平均降低。结论:不能以年龄作为筛查DS的唯一指标,孕中期母体血清AFP、Free-β-HCG联合检测可能是预测胎儿染色体畸形的有效指标,经产前诊断及时采取措施,能降低出生缺陷,对优生工作具有重要意义。

The application of second trimester maternal serum in prenatal screening for Down 's syndrome

Objective:To explore the application of second trimester maternal serum marker,alpha-fetoprotein(AFP)and free-β-human chorionic gonadotropin(Free-β-HCG),in prenatal screening for Down's syndrome(DS). Methods:From January,2009 to January,2010.75 876 pregnant women at 15 through 20+6 weeks of gestation were received in Tianjin,and alpha-fetoprotein and free-β-human chorionic gonadotropin of them were measured by time-resolved fluoroimmunoassay.Then the risk of DS was evaluated by use of statistical software Life Cycle 3.0 combined with age,gestational weeks,weight,always unusually gravid history,without diabetic,smoking history and other factors.Those who were deemed to be at high risk of having a baby with Down's syndrome received Genetic consultation,In informed consent under the condition of amniotic fluid puncture and ultrasonic diagnosis. Results:Of 75 876 cases,4 241 cases were abnormality high-risk,including 1 036 cases accepted amniotic fluid puncture prenatal diagnosis,16 cases of them were diagnosed as Down's syndrome and 2 cases were trisomy 18,9 cases were other fetuses with chromosomal abnormalities..In the 27cases,18 patients were older less than 35 years old.Two gestation median values screening indexes were established in this area.The results showed that the AFP level in mother blood who had DS fetal was lower than normal pregnant women,and free-β-HCG level increased.But AFP level and free-β-HCG level of the mother who had fetal with trisomy 18 were reduced. Conclusion:Age is not only index for screening DS,AFP combined with free-β-HCG may be effective index for predicting a baby chromosome abnormalities.It plays an important role in the eugenics work.