QF-PCR技术应用于孕早期宫颈脱落滋养细胞产前诊断的研究

Application of QF-PCR technology in the first trimester cervical exfoliated trophoblast research

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 evaluate the quantitative fluorescence PCR composite amplification multiple short tandem repeat（STR） on pregnant women with early pregnancy cervical canal within the fetal loss trophoblast cell chromosome abnormality of noninvasive prenatal diagnosis.Methods： 80 cases of artificial abortion in pregnant women with cervical mouth rinse liquid,extraction of the rinse liquid DNA,at 21,X,Y chromosome7 loci and 13,18 on chromosome 8 loci in this paper applies the method of QF-PCR composite amplification detection and the analysis of the results.The stream of people after the chorionic villi using conventional karyotype analysis to determine the state of chromosome.Results： In 80 cases of trophoblast cell samples,69 cases were amplified successfully and accurately detected,gender and chromosome samples.20 cases were normal,the other sample presence of maternal cell contamination.Conclusion： The application of QF-PCR amplification of transcervical fetal trophoblast cells for chromosome abnormalities in the diagnosis of early pregnancy,for noninvasive prenatal diagnosis provides a possible way,but should adopt more effective measures and enrichment of fetal trophoblast cells,avoidance of maternal cell contamination.