摘要
目的评价孕中期二联血清学产前筛查对杭州地区21-三体综合征、18-三体综合征和神经管缺陷的检出效果,进一步评估产前筛查效能。方法对孕15-19+6w孕妇,采集静脉血分离血清,用时间分辨免疫荧光法对血清中的甲胎蛋白(AFP)和游离绒毛膜促性腺激素(Free-β-HCG)进行检测,结合年龄、孕周、体重等参数,通过Lifecycle软件评估孕妇风险,针对高风险孕妇进行产前诊断,对所有参与产前筛查的孕妇追踪随访妊娠结局。结果 29196例孕妇中期产前筛查21三体、18三体、NTD筛查阳性率分别为2.99%(872例)、0.11%(31例)、0.28%(83例),产前筛查检出率57.14%,假阳性率3.35%,随访发现低风险中发生4例21三体综合征,2例神经管畸形。结论孕中期产前筛查是出生缺陷干预重要的预防措施,但仍需不断改进完善和优化方案,提高唐氏综合征的检出率。
Objective：To investigate the clinic value of the double marker prenatal screening system for Down′s syndrome,Edwards′ syndrome and neural tube defects in Hangzhou. Methods：DELFLA double marker reagents are used to test the concentrations of AFP and free-β-HCG in the serum of 29 196 women with 15~19＋6 weeks pregnancy. With factors of age,children weeks,weight and so on,we evaluated the risk by Lifecycle software. Prenatal genetic diagnosis was applied to high-risk pregnant women and followed up visits were completed for all the participants. Results：29 196 pregnant women accepted prenatal screening,872 of them were at high risk with Down′s syndrome,31 cases with Edwards′ syndrome,83 cases with NTD. The detection rate of prenatal screening was 57.14%,the false positive rate was 3.35%. 4 cases were found with Down′s syndrome and 2 cases were found with NTD during follow-up among the low risk pregnant women. Conclusion：Prenatal screening during the second trimester of pregnancy is an effective method to screen fetal congenital defects. And we still need to improve and optimize prenatal screening for improving the detection rate of Down′s syndrome.
出处
《中国优生与遗传杂志》
2016年第4期48-49,87,共3页
Chinese Journal of Birth Health & Heredity
关键词
产前筛查
唐氏综合征
假阴性
Prenatal screening
Down′s syndrome
False negative
