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孕中期唐氏综合征产前筛查的分析 被引量:1

Analysis of the Second Trimester Down Syndrome Prenatal Screening
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摘要 目的探讨孕中期母血清学指标筛查胎儿唐氏综合征的方法在中国人群中的运用,确定本地区孕妇各孕周筛查血清学指标的中位数。方法采用西门子IMMuLITE1000化学发光分析仪及配套试剂对2011年1月至2012年12月在本院产前检查的2854例孕15-20周的妇女进行血清标志物AFP、HCG、uE3检测,用西门子PRISCAVersion4.0风险评估软件进行风险率筛查,并对筛查出的高危孕妇进行羊水或脐血染色体核型分析以确诊。使用SPSS16.0软件统计分析本地区孕中期各孕周筛查血清学指标的中位数值。结果唐氏综合征风险筛查的阳性率为5.19%,其中经羊水或脐血染色体核型分析检出4例染色体异常胎儿,其中3例唐氏综合征、1例18三体综合征,唐氏综合征患儿的检出率为100%。初步建立了本实验室孕中期各孕周筛查血清学指标的中位数值。结论孕中期血清学筛查唐氏综合征的方法可提高胎儿染色体病的检出率。各实验室应建立自己的中位数,根据本地区实际情况选择适当的筛查策略,在提高唐氏综合筛查检出率的同时也可使假阳性率得到降低。 Objective To explore the application of second-trimester maternal serum markers screening for Down syndrome in the Chinese population, and to establish the screening serum markers of median value for each gestational age of pregnant women in this region. Method From January 2011 to December 2012, using the Siemens IMMULITE1000 chemiluminescent analyzer and ancillary reagents to detect the serum markers ofAFP, HCG, uE3 in pregnant 15-20 weeks women for antenatal check, and to Screening the Risk-free rate by Siemens the PRISCA Version 4.0 risk assessment software, to confirm the diagnosis with amniotic fluid or umbilical cord blood karyotype analysis for screening out high-risk pregnant women. To statistical analysis the second-trimester maternal serum markers of median value by Use SPSS16.0 sottware in this region. Results The risk of Down syndrome screening positive is 5.19%. There are four cases of chromosomal abnormalities Confirm by amniotic fluid or umbilical cord blood karyotype analysis, including three cases of Down syndrome, one cases of Trisomy 18,children with Down syndrome detection rate of 100%. Initially established the laboratory median value for the screening serum markers of median value for each gestational age of pregnant women. Conclusion The second trimester serological methods of screening for Down's syndrome can increase the detection rate of fetal chromosomal diseases. Each laboratory should establish its own median choose appropriate screening strategies, according to the actual situation of the region, the false-positive rate can be reduced to improve the detection rate of Down Syndrome screening.
出处 《中国医药指南》 2013年第24期191-192,共2页 Guide of China Medicine
关键词 孕中期 唐氏综合征 产前筛查 The second trimester Down syndrome Prenatal screening
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