胚外体腔穿刺术应用于α地中海贫血产前诊断的探讨

Detection of alpha-thalassemia gene by coelocentesis in early prenatal diagnosis

目的 探讨胚外体腔穿刺术应用于α地中海贫血产前诊断的可行性。方法 对 5 0例妊娠 6 10周、要求人工流产的单胎妊娠孕妇在终止妊娠前行胚外体腔穿刺术抽吸胚外体腔液 ,吸宫术后取绒毛 ,采用聚合酶链反应(PCR)扩增胚外体腔细胞及绒毛的α地中海贫血基因 ,比较两种标本诊断的符合率。结果 40例胚外体腔细胞成功地扩增α地中海贫血基因 ,结果均与绒毛相符。结论 通过胚外体腔穿刺术取胚外体腔细胞行PCR检测可用于α地中海贫血的早期产前诊断 ,但应进一步提高诊断方法的敏感性。

Objective To investigate whether alpha-thalassemia can be diagnosed with extraembryonic coelomic cells.Methods Before artificial abortion coelocentesis was performed to get extraembryonic coelmic fluid in 50 women with singleton pregnancy during 6~10 gestational weeks,then to get villi after suction.PCR technique was used to amplify alpha-thalassemia gene in both extraembryonic coelomic cells and villi and the concordant rate of two kinds of samples were compared.Results The genotypes of alpha-thalassemia were successfully amplified in these 40 samples of coelomic cells,all of them were concordant with the results of villi.Conclusion Extraembryonic coelomic cells can be used in the early prenatal diagnosis of alpha-thalassemia by PCR technique.But the sensitivity of this technique should be increased.