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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。
Objective To investigate the second trimester serological screening of Down’s syndrome in Zhongshan area. Methods The serum AFP, F-βHCG and uE3 levels in 9146 pregnant women from 14 weeks to 20 weeks in 23 townships in Zhongshan and in our hospital from January 2009 to June 2009 were detected by time-resolved fluorescence immunoassay. And the screening of high-risk pregnant women for amniotic fluid or cord blood chromosome diagnosis, all screening pregnant women were followed up until after delivery. Results Among the 9146 pregnant women who were screened, there were 789 high-risk pregnant women with 3 trisomy 21, 3 trisomy 18 and 1 NTD. The positive rate of screening was 8.63% and the rate of diagnosis was 0.89%. One negative 21 trisomy was detected in negative pregnant women, with a detection rate of Down Syndrome of 75% (3/4). According to the screening data in Zhongshan, the median gestational age screening index in this area was established. Conclusion The second trimester screening of Down’s syndrome serological methods to improve the detection of fetal chromosomal abnormalities, to reduce birth defects, improve the quality of the population of great significance. Taking into account the differences among different ethnic groups and different regions, we established a laboratory median value of screening indicators to improve the detection rate and reduce the false positive rate.