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作 者:吴行飞[1] 石鑫玮[2] 陈馨[1] 赵岚[1] 崔天盆[1] 乔福元[2]
机构地区:[1]武汉市第一医院检验科,武汉430022 [2]华中科技大学同济医学院附属同济医院妇产科,武汉430030
出 处:《中国优生与遗传杂志》2013年第5期54-55,66,F0004,共4页Chinese Journal of Birth Health & Heredity
摘 要:目的研究孕妇孕中期唐氏综合征筛查预测异常胎儿的价值,分析唐氏综合征筛查高风险与不良妊娠结局的关系。方法采用化学发光免疫技术定量检测孕中期(14-22周)孕妇血清中的三项指标(AFP、HCG、uE3),通过配套软件估算唐氏综合征、爱德华氏综合征、神经管缺陷的风险度,参考风险阈值筛选出高风险孕妇。通过产前诊断结果以及回访数据分析唐氏综合征筛查高风险与妊娠结局之间的相关性。结果筛查为高风险的179例孕妇中有:唐氏综合征4例,爱德华氏综合征1例,神经管缺陷2例,其他染色体异常2例,超声提示其他畸形3例,1例孕妇在羊膜腔穿刺术2周后流产。结论孕中期唐氏综合征筛查高风险是一项提示胎儿可能存在异常十分敏感的指标,普及唐氏综合征筛查对降低新生儿缺陷率、提高人口素质有着重要意义。Objective: To investigate the value of Down syndrome screening at 2st trimester and analysis the relationship of high risk for Down syndrome screening and adverse pregnancy outcome. Methods: The study detected the concentration of AFP, HCG and uE3 in serum of pregnant women at 2st trimester ( gestational week : 14 - 22) by chemiluminescence assay ; estimated the risk of Down' s syndrome, Edward's syndrome and neural tube defect by software; screened pregnant women with high risk. Acquire the pregnancy outcome through tracing the results of prenatal diagnosis and calling back. Results: Among 179 cases with high risk for Down syndrome screening, there were 4 cases with Down syndrome, I case with Edward's syndrome, 2 cases with neural tube defect, 2 cases with oth- er chromosome abnormality, 3 cases with other malformation by ultrasound, and 1 case with abortion after amniotic cavity puncture. Conclusion: High risk for Down syndrome screening is a very sensitive indicator, which hints that the fetus may be with abnormality. Spreading'the screening is important for reducing the rate of birth defect and improving the population quality.
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