孕早期绒毛膜细胞原位培养法用于地中海贫血的产前诊断

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。

Chorionic villus cells in situ cultivation for diagnosis of thalassemia in the first trimester of pregnancy

Objective To evaluate the availability of villus cell in situ cultivation for early diagnosis of severe thalassemia.Methods Chorionic villus samples were taken via cervix of pregnant women at 7-10 weeks of gestation by COOK biopsy pipette and alpha or beta gene of thalassemia were then detected.Two research groups were designed.In the group 1 DNA determination for the chorionic villus cells was directly performed to diagnose severe thalassemia,and in the group 2 cultivation in situ was adopted to harvest the chorionic villus cells before gene diagnosis.Results Sixty-four samples of chorionic villus were collected from 69 pregnant women,and 63 samples of chorionic villus cells were successfully cultivated(success rate of 98.44%).As a result of taking only thimbleful chorionic villus cells,no enough DNA obtained in 6 samples,so the direct gene diagnosis can not be performed.By cultivation in situ to harvest chorionic villus cells,DNA detection for diagnosis of thalassemia was completed.Among 63 cases,29 were normal fetus and 34 was abnormal fetus in which 18 were carriers of thalassemia gene.Conclusion The method of chorionic villus cells in situ cultivation is rapid,safe and effective for prenatal gene diagnosis of thalassemia.