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目的探讨孕早期绒毛膜细胞原位培养及在地中海贫血(简称地贫)产前诊断中的应用价值,评价其在产前诊断中的可行性。方法用COOK公司的绒毛活检吸管,经宫颈吸取绒毛膜细胞(chorion ic villous samp lings,CVS)标本,分两组:1组直接行地贫基因诊断,另1组进行绒毛膜细胞原位培养,收获细胞后行地贫基因诊断。结果取材手术69例,64例取材成功,63例绒毛膜细胞原位培养成功,1例培养失败,培养成功率为98.44%。64例中有6例绒毛取材量极少,无法直接提取DNA行地贫基因诊断,经培养后完成基因诊断。产前诊断结果:63例中29例正常儿,异常34例,其中:Bart’s胎儿2例,HbH胎儿1例,α地贫基因携带者12例,HbCS胎儿2例,β地贫纯合子3例,β重型地贫6例,β地贫基因携带者5例,α+β复合地贫纯合子1例,α+β复合地贫杂合子2例。结论孕早期绒毛膜细胞原位培养方法简单易行,技术稳定,需标本量少,安全,结果可靠。可应用于地贫的产前诊断。
Objective To investigate the value of in situ culture of chorionic cells in early pregnancy and prenatal diagnosis of thalassemia (thalassemia), and evaluate its feasibility in prenatal diagnosis. Methods COOK villi biopsy pipette, cervical chorion ic villous samp lings (CVS) specimens were divided into two groups: one group directly diagnosed thalassemia gene, another group of chorionic cells in situ culture, Harvest of cells after thalassemia gene diagnosis. RESULTS: Totally 69 surgeries were performed, 64 cases were successfully obtained, 63 cases of choriocarcinoma cells were successfully cultured in situ, 1 case failed to culture, and the success rate of culturing was 98.44%. Sixty-four of the 64 cases had very little amount of villus material and were unable to directly extract DNA for diagnosis of thalassemia gene. After being cultured, gene diagnosis was completed. Prenatal diagnosis: 29 cases of normal in 63 cases, 34 cases of abnormal, including: Bart’s fetus in 2 cases, HbH fetus in 1 case, 12 cases of α-thalassemia carriers, HbCS fetus in 2 cases, β-thalassemia homozygotes in 3 cases , 6 cases of β-thalassemia major, 5 cases of β thalassemia carriers, 1 case of α + β-thalassemia homozygotes and 2 cases of α + β-thalassemia heterozygotes. Conclusion The method of in situ culture of chorionic cells in early pregnancy is simple, stable and requires less amount of sample, safety and reliable results. Prenatal diagnosis of thalassemia can be applied.