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目的探讨唐氏综合征血清学筛查联合无创基因检测技术在增加唐氏综合征的检出率,降低假阳性率的意义。方法应用时间分辨荧光免疫分析技术,对11 748例孕妇进行血清标志物(PAPP-A/freeβ-h CG或者AFP/freeβ-h CG/u E3)联合筛查,使用Multical软件筛查高风险对象,血清学高风险孕妇抽取静脉血10ml,提取游离DNA,采用新一代高通量测序技术,结合生物信息分析,得出胎儿唐氏综合征的风险率。结果共筛查出高风险孕妇1024例,其中21三体高风险891例,18三体高风险133例,无创基因检测21三体高风险13例,18三体高风险4例,16例高风险孕妇经介入性产前诊断细胞培养均确诊为染色体异常,1例高风险孕妇染色体核型正常。结论无创基因检测在临床工作中可以改善血清学筛查结局,可以在临床工作中建立一套快速无创性产前诊断的有效模式。
Objective To investigate the significance of Down’s Syndrome serological screening combined with non-invasive genetic testing in increasing the detection rate of Down’s Syndrome and reducing the false positive rate. Methods Serum markers (PAPP-A / free β-h CG or AFP / free β-h CG / u E3) were screened in 11 748 pregnant women using time-resolved fluorescence immunoassay. Multical software was used to screen high-risk subjects Serum risk pregnant women were drawn venous blood 10ml, extracted free DNA, using a new generation of high-throughput sequencing technology, combined with bioinformatics analysis, derived fetal Down’s syndrome risk. Results A total of 1024 high-risk pregnant women were screened out, of whom 891 were high risk of trisomy 21, 133 were high risk of trisomy 18, 13 were high risk of trisomy 21, 4 were high risk trisomy 18, and 16 were high risk pregnant women Prenatal diagnosis of cell culture were diagnosed as chromosomal abnormalities, 1 case of high-risk pregnant women with normal karyotype. Conclusion Noninvasive genetic testing can improve the outcome of serological screening in clinical work and establish a rapid and noninvasive model of prenatal diagnosis in clinical practice.