孕早期宫颈分泌物中获取胎儿细胞DNA进行产前诊断的可行性

First-trimester cervical samples: Feasibility of obtaining fetal cells DNA for prenatal diagnosis

目的 探索获取胎儿细胞DNA用于产前基因诊断的可行性 ,及能否用于预期胎儿性别。 方法 收集 92例孕早期人工流产妇女宫颈分泌物和绒毛组织 ,提取宫颈分泌物中DNA ,扩增Y染色体特异重复序列DNA。短期培养制备绒毛染色体 ,分析核型确定流产胎儿性别。 结果 92例经绒毛染色体核型分析的人工流产胎儿中 ,正确预期胎儿性别 72例 ,准确率 78%。结论 采集孕早期宫颈分泌物 ,可获得胎儿滋养层细胞DNA用于产前诊断 ,其准确性和可靠性有待进一步提高。

To determine the feasiblility of obtaining fetal cells DNA for first trimester of pregnancy prenatal gene diagnosis using cervical samples, and whether fetal sex can be predicted. Methods: Samples were collected from 92 women undergoing termination of pregnancy between 5 and 10 weeks of gestation. Detection of Y-chromosome specific DNA sequences by polymerase chain reaction was performed on cervical sampling, the results were compared with standard cytogenetic analysis using chorionic villous sampling. Results: correct predictions were made in 72 of the 92 pregnancies (78%) from the cervical samplings. conclusions: Fetal cells DNA may be retrieved from the cervix in the first trimester for prenatal diagnosis. The noninvasive method requires considerable additional effort being expended in further research and development.