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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 the feasibility of pre-operative extracavitary puncture for prenatal diagnosis of α-thalassemia. Methods A total of 50 pregnant women with pregnancy of 60 weeks were enrolled in this study. Singleton pregnancy women who requested abortion were treated with extraembryonic body cavity aspiration and aspiration of the extraembryonic cavity fluid before termination of pregnancy. Polymerase chain reaction (PCR) Amplify α-thalassemia genes in extra-corporeal cells and villi, and compare the coincidence rates of the two specimens. Results Forty cases of extra-corporeal cells were successfully amplified α thalassemia genes, the results were consistent with the villi. Conclusion Extraembryonic extracorporeal cells can be used for early prenatal diagnosis of α-thalassemia by extra-corporeal biopsy. However, the sensitivity of diagnostic methods should be further improved.