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目的探讨采用定量荧光PCR技术复合扩增多个短串联重复序列(STR)对孕早期妊娠妇女宫颈管内的胎儿脱落滋养细胞进行染色体异常无创性产前诊断方法的价值。方法收集80例人工流产孕妇宫颈内口冲洗液,提取冲洗液中的DNA,分别针对21号、X、Y染色体上7个位点和13号、18号染色体上8个位点应用QF-PCR方法进行复合扩增检测并分析结果。对人流后的绒毛采用常规染色体核型分析确定染色体状态。结果 80例滋养细胞样本中,69例扩增成功,并准确检出样本的性别及染色体。20例检出核型正常,其他样本存在母体细胞污染。结论应用QF-PCR扩增对经宫颈获取的胎儿滋养细胞进行染色体异常的诊断,为孕早期无创性产前诊断提供了一个可能途径,但应采取更有效的措施富集胎儿滋养细胞,避免母体细胞污染。
Objective To investigate the value of quantitative PCR amplification of multiple short tandem repeats (STR) in non-invasive prenatal diagnosis of fetal exfoliated trophoblasts in the cervix of pregnant women in early pregnancy. Methods Eighty cases of abortion cervix cervix irrigating fluid were collected and the DNA was extracted from the wash fluid. QF-PCR was performed on seven loci on chromosome 21, chromosome X and Y and on chromosomes 13 and 18 respectively Methods The multiplex amplification assay and analysis of the results. Chromosome status was determined using conventional chromosome karyotype analysis of human hair follicles. Results In 80 cases of trophoblast cells, 69 cases were successfully expanded and the sex and chromosome of the samples were accurately detected. 20 cases detected normal karyotype, other samples of maternal cell contamination. Conclusion QF-PCR amplification of cervical trophoblastic fetuses acquired by chromosome diagnosis of chromosomal abnormalities for the first trimester of noninvasive prenatal diagnosis provides a possible way, but should take more effective measures to enrich fetal trophoblast cells to avoid the mother Cell contamination.