10442例孕中期孕妇胎儿唐氏综合征的筛查分析

Screening analysis of Down syndrome in 10442 second-trimester pregnancy cases

目的评价产前唐氏综合征(DS)筛查的临床应用价值。方法应用Beckm an Cou lter公司Access全自动分析仪对10 442例孕中期孕妇血清进行甲胎蛋白(AFP)、总β绒毛膜促性腺激素(TβHCG)及游离雌三醇(uE3)3项指标检测,并用专用软件分析,预测胎儿患DS的风险。结果10 442例中,DS高风险526例,其中373例作了羊水细胞培养染色体核型分析,确诊21三体7例。在筛查阴性的9 916例中,出生DS患儿4例,经外周血染色体核型分析证实为21三体。该筛查方法的筛查阳性率5.04%,筛出率63.64%。结论孕中期母血清筛查是预防DS患儿出生的重要途径,这一筛查系统同样适合于中国人群,对特殊人群采用特殊处理方法可使筛出率提高至81.82%。

Objective To evaluate the clinical practice value of the screening analysis of Down syndrome （DS） on second-trimester pregnancy. Methods The levels of maternal serum alpha-fetoprotein （ AFP）, total beta human chorionic gonadotropin （ TβHCG） and unconjugated estriol （ uE3 ） in 10 442 second-trimester pregnancy cases were measured by Beckman Coulter Access immunoassay system. High-risk case of DS was forecasted by special software. Results 526 high-risk cases of DS were found,among which 373 cases were taken prenatal diagnosis. It turned out that 7 cases were found with trisomy 21. 4 cases among the 9 916 negative-screening cases were born with trisomy 21 ,according to the analysis of the chromosome karyotypes in peripheral blood. The rate of the detection of trisomy 21 was 63.64% with a 5.04% positive rate. Conclusions Screening analysis of second-trimester pregnancy serum is a major way to prevent DS. The system of maternal serum screening for DS is also applicable to Chinese people. It can utilize the specific methods towards target population to increase the sensitivity to 81.82%.