【摘要】 目的:探讨并行基因组测序技术对唐氏综合征高危孕妇的诊断价值。方法:选择2011年5月~2012年7月唐氏综合征生化筛查高危的孕妇及在其他医院筛查高危复诊的孕妇270例作为研究对象,抽取孕妇外周血5 ml,提取血液中总DNA,并制备测序文库,测量基因序列,并与参考基因组进行对比,阳性孕妇行羊水或脐血传统染色体核型检查。结果:并行基因组测序结果显示,3例21-三体阳性,3例18-三体阳性,264例为阴性。6例阳性者均行脐血或羊水染色体核型检查,结果显示,3例21-三体阳性者中,有2例为21-三体核型,1例为XYY;3例18-三体阳性者核型检查均为18-三体;阴性者264例均已分娩,随访胎儿无异常。结论:并行基因组测序技术对唐氏综合征高危进行筛查,符合临床检测的要求,有较高的特异性、敏感性以及与染色体核型分析具有较好的一致性,具有显著的临床应用价值。更多还原

【Abstract】 Objective: To explore the value of parallel genome sequencing technology in non-invasive prenatal diagnosis of high risk pregnant women with Down’s syndrome. Methods: A total of 270 high risk pregnant women with Down’s syndrome were selected as study objects from May 2011 to July 2012,5 ml peripheral blood samples were obtained from the pregnant women,total DNA was abstracted,and gene sequencing library was prepared,gene sequencing was performed,and the results were compared with reference genome,the positive pregnant women received conventional amniotic fluid or umbilical cord chromosomal karyotyping. Results: Among the study objects,three pregnant women were found with positive trisomy 21,three pregnant women were found with trisomy 18,and 264 pregnant women were negative. All the six positive pregnant women received amniotic fluid or umbilical cord chromosomal karyotyping,the results showed that among three pregnant women with trisomy,two pregnant were trisomy karyotype and the other one was XYY; three pregnant women with trisomy 18were trisomy; 264 negative pregnant women gave birth to their babies and the fetuses were normal. Conclusion: Screening Down’s syndrome with parallel genome sequencing technology meets the requirements of clinical test,which has high specificity,sensitivity and consistency with chromosomal karyotyping,and the clinical application significance is high.更多还原