Chẩn đoán trước sinh bệnh thiếu máu huyết tán beta thalassemia

• Tác giả: Hải Nam Bùi, Thị Ngọc Lan Hoàng, Danh Cường Trần
• Ngôn ngữ: vie
• Ký hiệu phân loại: 618.92 Pediatrics
• Thông tin xuất bản: Y học Việt Nam, 2013
• Mô tả vật lý: 156-158
• Bộ sưu tập: Metadata
• ID: 630042

Tóm tắt

Objective: To evaluate the results of amniotic fluid aspiration initially diagnosed before birth beta Thalassemia. Methods: Screening on the family history of the birth of children with beta thalassemia, both the father and the mother were the mutations carriers, analysis fetuses chromosomes and ADN from amniocytes to detected mutations in fetuses. Results: of the 21 women with gene mutations of beta thalassemia is aspirate fluid to analysis chromosome and look for mutations in the fetus. one twin fetus (a total of 22 fetuses). The rate of severe P thalassemia accounted for 18.2 percent. the rate of fetal gene carriers 54.5 percent. normal fetal rate is 27.3 percent. Conclusion: Using the method aspirate amniotic fluid to collect fetal cells for diagnosis the genetic mutations of beta Thalassemia in fetuses of couples who carry the disease gene is entirely possible to do and give very good results to move management of pregnancy.