摘要
目的 探讨孕中期血清学筛查唐氏综合征在中山地区的应用.方法 采用时间分辨荧光免疫技术,对2009年1月到2009年6月中山23家镇区及本院的共9146例孕14周～20周的妇女进行血清AFP、F-βHCG、uE3的检测,并对筛查出的高风险孕妇进行羊水或脐血染色体确诊,所有筛查孕妇都进行随访到分娩后.结果 筛查的9146例孕妇中,高风险789例,确诊21三体3例,18三体3例,NTD 1例,筛查阳性率8.63%,确诊率0.89%.筛查阴性的孕妇中检出21三体1例,唐氏综合征的检出率为75%(3/4).根据中山地区筛查数据建立了该地区各孕周筛查指标的中位数值.结论 孕中期血清学筛查唐氏综合征的方法有提高检出染色体异常胎儿的作用,对减少出生缺陷、提高人口素质有重要意义.因考虑到各民族、各地区的差异,建立实验室自己的筛查指标中位数值,以提高检出率,减低假阳性率.
Abstract
Objective; To explore the application of second - trimester maternal serum marker screening for Down's syndrome in the Zhongshan city population. Methods: From January 2009 to June 2009, 9146 pregnant women at 14 through 20 weeks of gestation received measurements of serum markers alpha - fetoprotein and free - |3 - human chorionic gonadotropin by using time- resolved flu-oroimmunoassay. Those who were deemed to be at high risk of having a baby with Down's syndrome received chromosomal detection in amniotic fluid or cord blood for further diagnosis, and all screening case must be visited. Results: 789 women were detected at high risk in 9146 pregnant women, 3 were diagnosed as Down's syndrome and 3 trisomy 18 and 1 neural tube defects. The positive rate was 8. 63% , the diagnostic rate was 0. 89%. 1 women with negative screening test were confirmed to have a baby with Down's syndrome. The detection rate for Down's syndrome was 75%. The median second - trimester serum markers in each gestation week were achieved according to Zhongshan data base. Conclusions; Second - trimester serological screening for Down's syndrome can increased the detection rate of fetal genetic disorders. The median value of serum markers differs among races and area. So clinical laboratories should established their own median marker values to improve the effectiveness of screening and reduce the false - positive rate.
NETL
NSTL
维普
万方数据