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目的:探讨孕中期妇女产前唐氏筛查的临床应用价值,并探讨影响其风险值的主要因素。方法:检测2128例孕中期(14周~21周)孕妇血清中的甲胎蛋白(AFP)人绒毛膜促性腺激素β亚单位(β-HCG)游离雌三醇(uE3)的浓度。AFP、β-HCG、uE3均采用微粒子化学发光法检测,使用唐氏筛查软件(上海天臣计算机软件有限公司设计评估风险。建议唐氏综合征或18-三体综合征高风险孕妇行胎儿羊水染色体核型分析,神经管缺陷高风险者接受高分辨超声检查。结果:唐氏综合征、18-三体综合征、神经管缺陷高风险发生率分别为5.16%、0.42%、0.98%。高风险孕妇经产前诊断确诊唐氏综合征1例,18-三体综合征1例,神经管缺陷1例。结论:对孕中期孕妇进行产前唐氏筛查是减少患染色体疾病和神经管缺陷及唐氏综合征患儿出生的有效方法。
Objective: To investigate the clinical value of prenatal screening of Down’s syndrome in pregnant women of the second trimester, and to explore the main factors influencing their risk. Methods: The concentrations of human estrogen-β-subunit (β-HCG) free estriol (uE3) in serum of 2128 pregnant women with gestational age from 14 weeks to 21 weeks were detected. AFP, β-HCG, and uE3 were detected by microparticle chemiluminescence assay using Down’s screening software designed by Shanghai Tienchen Computer Software Ltd. to assess the risk of Down’s syndrome or 18-trisomy syndrome Amniotic fluid karyotype analysis, high risk of neural tube defects were examined by high resolution ultrasound.Results: Down’s syndrome, 18 trisomy, high incidence of neural tube defects were 5.16%, 0.42%, 0.98%. Prenatal diagnosis of high risk pregnant women diagnosed Down Syndrome in 1 case, 18 cases of trisomy syndrome in 1 case, 1 case of neural tube defects.Conclusion: Prenatal screening for pregnant women in the second trimester is to reduce the risk of chromosomal diseases and nerves Tube defects and children with Down Syndrome is an effective method of birth.