不同方法在唐氏综合征产前筛查中的比较研究

目的：比较不同时期二联筛查与传统孕中期二联筛查在唐氏综合征产前筛查中的效果。方法：采用罗氏电化学检测技术，对1289例同意接受产前筛查的孕妇及5例已确诊的唐氏综合征妊娠孕妇的冻存血清标本在孕周11-14周的孕妇测定PAPP—A、Free8-HCG，再于孕16-20周检测AFP、B—HcG浓度，分别计算不同时期二联筛查和传统孕中期二联筛查的风险值、检出率和假阳性率。结果：本研究中孕早期栓出唐氏综合征高风险孕妇21例，孕中期检出高风险孕妇31例，其中包括一期高风险孕妇20例，共检出高风险孕妇32例，31例接受了羊膜腔穿刺检查，产前确诊1例，阳性率值为3．2％。32例筛查病例中，30-40岁者16例占（50．00％），可见高龄孕妇是唐氏综合征的危险人群。当截断值为1：270时，三联筛查与二联筛查对唐氏综合征的检出率均为65．2％；当截断值为1：380时，不同时期二联筛查的检出率明显高于孕中期传统二联法（p〈0．05）o结论：在孕妇不同时期进行二联筛查是更有效的唐氏综合征筛查方法，有必要制定适合本地区人群的风险切割值，以提高产前筛查的筛查效率。

Comparative study of different methods in Down's syndrome prenatal screening

Objective ： To comparison of different period of two GRC screening with the traditional two CILC screening in second trimester prenatal for Down＇s syndrome in effect. Methods ： Using the Roche electrochemical detection technology,1289 cases accepted antenatal screening of pregnant women and5 patients who had been diagnosed with Down syndrome pregnancy of cryopreserved serum specimens in gestational weeks11 to14weeks of pregnancy determination of PAPP-A, Free beta-HCG, and then in 16-20 weeks pregnancy detection of AFP, HCG, concentration, were calculated for two screening and triple screening for risk value, the detection rate and false positive rate.Results ： The study of early pregnancy detection of Down syndrome in 21 cases of high risk pregnant women, the second trimester detection of high risk pregnant women in 31 cases, including a period of high risk pregnant women in 20 cases, visible, there were32 cases of high risk pregnant women,31 cases underwent amnion cavity puncture examination, prenatal diagnosis in 1 cases, the positive rate is 3.2%. In 32 cases the screening case,30~40 years old accounted for 16 cases （50%）, visible in women of advanced maternal age is down syndrome risk population.When the cut-off value of 1 to 270, with two triple screening for CRC screening for Down syndrome detection rates were65.2%; when the cnt-offvalue of 1： 380, different period two CILC screening detection rate was significantly higher than that of the traditional two CR.C screening in（ P 〈 0.05） .Conclusions ： In pregnant women during different periods of the traditional two CRC screening in second trimester prenatal is more effective for Down syndrome screening method, it is necessary to develop the region for the risk of cutting value, in order to improve prenatal screening ef/iciency.