运用胚外体腔液产前诊断α地中海贫血的临床研究

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

目的探讨胚外体腔穿刺液应用于α地中海贫血产前诊断的安全性及准确性.方法对40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)检测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36例胚外体腔细胞成功地扩增α地中海贫血基因,结果均与绒毛检测结果相符.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,具有可行性.

Objective To investigate the safety and accuracy of diagnosing alpha-thalassemia with extraembryonic coelomic cells. Methods Coelocentesis was performed before artificial abortion to collect extraembryonic coelmic fluid in 40 women with singleton pregnancy during 6-10 gestational weeks. The villi was gathered after suction. PCR technique was used to amplify alpha-thalassemia gene in both extraembryonic coelomic cells and villi and concordant rate of two different kinds of samples were compared. Results The genotypes of alpha-thalassemia were successfully amplified in 37 cases of coelomic cells and all were concordant with the results of villi. Conclusion Extraembryonic coelomic cells can be used in early prenatal diagnosis of alpha-thalassemia by PCR technique and is practicable.