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目的:研究通过多重荧光定量PCR诊断胎儿染色体非整倍体用于临床快速产前诊断的可行性。方法:从孕中期羊水中提取胎儿DNA,通过多重荧光定量PCR使用STR对13、18、21号染色体进行非整倍体筛查,筛查结果异常者再进行快速诊断。用PCR诊断的羊水标本同时使用“金标准”染色体核型分析法做对比。结果:34例羊水标本中2例标本由于母血污染严重未行PCR检测,1例标本经PCR及核型分析均失败,29例标本经PCR和核型分析诊断为正常染色体,2例标本经PCR和核型分析诊断为21-三体。结论:通过STR-PCR法使用多重荧光酶联聚合反应探针产前诊断胎儿唐氏综合征是临床快速产前诊断的有效方法之一。
OBJECTIVE: To study the feasibility of diagnosing fetal chromosome aneuploidy for rapid clinical prenatal diagnosis by multiplex fluorescence quantitative PCR. Methods: Fetal DNA was extracted from the second trimester of amniotic fluid. The chromosomes of chromosomes 13, 18, and 21 were screened by multiple fluorescence quantitative polymerase chain reaction (PCR) and the results of abnormal screening were further analyzed. The amniotic fluid samples diagnosed by PCR were also compared using the “golden standard” karyotype analysis method. Results: Two of the 34 cases of amniotic fluid samples were not detected by PCR because of the serious maternal blood contamination. One case had failed by PCR and karyotype analysis. The 29 cases were diagnosed as normal by PCR and karyotype analysis. Two cases PCR and karyotyping were diagnosed as 21-trisomy. Conclusion: Prenatal diagnosis of Down’s syndrome in fetuses by STR-PCR using multiple fluorescence enzyme-linked polymerization probes is one of the effective methods for rapid prenatal diagnosis.