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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 evaluate the effect of prenatal screening of second trimester of pregnancy on the detection of trisomy 21, trisomy 18 and neural tube defects in Hangzhou region and further evaluate the efficacy of prenatal screening. Methods Pregnant women aged 15-19 + 6w were divided into two groups, the serum of venous blood was collected and the serum AFP and Free-β-HCG were detected by time-resolved immunofluorescence. Age, gestational age, weight and other parameters, prenatal diagnosis of pregnant women by Lifecycle software, prenatal diagnosis of high-risk pregnant women, follow-up of pregnancy outcomes for all pregnant women involved in prenatal screening. Results The positive rates of NTD screening in 21,919 pregnant women were 2.99% (872 cases), 0.11% (31 cases) and 0.28% (83 cases) in prenatal screening of prenatal screening. The prenatal screening test The rate of false positive rate was 57.14% and false positive rate was 3.35%. Four cases of trisomy 21 and 2 cases of neural tube defects were observed at low risk. Conclusion The prenatal screening in the second trimester is an important preventive measure for the intervention of birth defects. However, it is still necessary to improve and optimize the program and improve the detection rate of Down Syndrome.