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.