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目的:探讨在高原地区孕妇中应用产前筛查对18-三体综合征的筛查效果。方法:对5 794例筛查孕妇进行血清甲胎蛋白和游离β-人绒毛促性腺激素二联指标检测,计算胎儿18-三体综合征风险,对所有筛查孕妇进行妊娠结局的随访。结果:胎儿18-三体综合征的总患病率为1.2‰;假阳性率为5.1%,阳性预测值为2.0%;高、低龄组胎儿18-三体综合征的患病率分别为7.6‰和0.7‰,差异有统计学意义。结论:胎儿18-三体综合征筛查是一种无创性检测手段,可降低先天性缺陷的出生。
Objective: To investigate the screening effect of prenatal screening on 18-trisomy syndrome in pregnant women in highland area. Methods: A total of 5 794 pregnant women under screening were tested for serum alpha-fetoprotein and free beta-human chorionic gonadotrophin, and the risk of fetal trisomy 8 was calculated. Pregnancy outcomes of all screening pregnant women were followed up. Results: The overall prevalence of fetal trisomy 8 was 1.2 ‰, the false positive rate was 5.1% and the positive predictive value was 2.0%. The prevalence rates of fetal trisomy 18 in high and low age group were 7.6 ‰ and 0.7 ‰, the difference was statistically significant. Conclusion: Fetal 18-trisomy syndrome screening is a noninvasive method to reduce the birth of congenital defects.