中孕期血清甲胎蛋白和人绒毛膜促性腺激素β亚基二联唐氏综合征筛查效果评价

Evaluation of serum AFP and free β-h CG duplex process prenatal screening in the second trimester

目的评估中孕期血清学甲胎蛋白(AFP)和人绒毛膜促性腺激素β亚基(freeβ-h CG)二联产前筛查唐氏综合征(Down's syndrome,DS)、18三体综合征(Edwards syndrome,ES)和开放性神经管畸形(open neural tube defects,ONTD)的筛查效果。方法回顾性分析2008年10月-2014年9月杭州市余杭区5家产前筛查采血点,自愿接受产前筛查的71 275例中孕期妇女血清学产前筛查结果和染色体核型分析情况。结果筛查出DS高风险2 155例,ES高风险189例,ONTD高风险396例,高风险阳性率分别为3.02%、0.27%和0.56%。本地区DS、ES和ONTD的筛查灵敏度分别为57.14%、88.89%和53.57%;特异度分别为97.01%、99.75%和99.47%;假阳性率分别为2.99%、0.25%和0.53%。结论中孕期妇女血清产前筛查检测,是目前降低本地区缺陷胎儿出生的有效措施之一。

Objective To evaluate the efficiency of prenatal screening with serum alpha-fetoprotein（ AFP） and free β subunit of human chorionic gonadotropin（ β-h CG） duplex process about Down＇ s syndrome（ DS） Edwards syndrome（ ES） and open neural tube defects（ ONTD） in the second trimester. Methods From October 2008 to September 2014,we retrospectively analyzed the serological prenatal screening results and chromosome karyotypes of 71 275 pregnant women for prenatal screening voluntarily at 5 prenatal screening blood sampling sites in Yuhang District of Hangzhou. Results There were 2 155 cases of DS（ 3. 02%）,189 cases of ES（ 0. 27%） and 396 cases of ONTD（ 0. 56%） at high risk. The urban results showed that the sensitivity of DS,ES and ONTD was 57. 14%（ 12/21）,88. 89%（ 8/9） and 53. 57%（ 15/28） respectively,and the specificity was97. 01%,99. 75% and 99. 47% in order,another,the false positive rates were 2. 99%,0. 25% and 0. 53% in turn. Conclusion The serum prenatal screening for second trimester is one of effective measures for reducing DS fetus birth rate in Yuhang district.