武汉地区2046例孕中期孕妇唐氏综合征筛查的结果分析  

Analysis on results of Down's syndrome screening in 2046 pregnant women in second trimester in Wuhan

作　　者：吴行飞[1] 石鑫玮[2] 赵岚[1] 段秀娟[2] 崔天盆[1] 陈馨[1] 胡必成[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8期44-46,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的探讨孕妇孕中期唐氏综合征筛查对异常胎儿检出的价值,分析孕妇年龄与唐氏综合征筛查风险度之间的关系。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。以35岁为界限将筛查孕妇分为两组,比较它们之间的风险差异。结果筛查2046例孕妇有179例筛查为高风险,其中唐氏综合征高风险136例、爱德华氏综合征高风险15例、神经管缺陷高风险29例(1例2项指标均为高风险)。经过产前诊断并结合回访数据发现179名高风险孕妇中,有唐氏综合征4例,爱德华氏综合征1例,神经管缺陷2例,其他异常染色体2例。经过统计分析,不同年龄组间的唐氏综合征筛查高风险率有显著性差异。结论孕中期血清唐氏综合征筛查是预防胎儿出生缺陷的有效检测方法。高龄孕妇的逐步增多加大了患儿产生的风险,这应引起相关部门的重视,也是优生优育工作面临的新问题。Objective： To explore the value of Down＇s syndrome screening in second trimester for detecting the abnormal fetuses and analyze the relationship between the maternal age and the risk for Down＇s syndrome screening.Methods： The study detected the concentration of AFP,HCG and uE3 in serum of pregnant women in second trimester（gestational week： 14-22） by chemiluminescence assay;estimated the risk of Down＇s syndrome,Edward＇s syndrome and neural tube defect by software.The cases were divided into two groups according to the age;and the risks in the two groups were compared.Results： Among 2046 cases,there were 179 cases with high risk for screening（136 cases with high risk for Down syndrome,15 cases with high risk for Edward＇s syndrome,29 cases with high risk for neural tube defect）.The results of prenatal diagnosis showed that there were 4 cases with Down syndrome,1 case with Edward＇s syndrome,2 cases with neural tube defect,and 2 cases with other chromosome abnormality.The rate of high risk for Down＇s syndrome screening in the two groups was significantly different by statistical analysis.Conclusion： Down＇s syndrome screening in pregnancy trimester is the effective method for screening fetal birth defects.As the number of pregnant women with advanced maternal age gradually increases,the risk of abnormal fetuses increases.This should cause the attention of the appropriate departments,and it＇s also the new problem which the prenatal and postnatal care faces.

关 键 词：唐氏综合征 爱德华氏综合征 神经管缺陷 产前筛查 高龄孕妇 

分 类 号：R714.5[医药卫生—妇产科学]