Abstract：【Objective】 To study on the prenatal Thalassemia gene analysis for pregnant women in order to avoid and reduce birth defects by intermediate and severe Thalassemia. 【Methods】 One hundred and three high-risk couples diagnosed as the same Thalassemia in our hospital from January 2013 to April 2015 were selected. According to the different pregnancy, amniotic fluid or umbilical cord blood was extracted to analyze fetal Thalassemia gene. Gap-PCR was used to detect the 3 common deletional α- Thalassemia, and 17 common β-Thalassemia and 3 non deletional α- Thalassemia were detected by PCR-RDB.【Results】 Among 103 couples with the same Thalassemia, 90 cases received prenatal diagnosis, the prenatal gene diagnose rate was 87.38 %. The results showed that 12 cases(13.33 %) with severe α-thalassemia, 8 cases(8.98 %) with intermediate α-Thalassemia and 14 cases(15.56%) with severe β-Thalassemia . Among the intermediate or severe thalassemia fetuses, except for 3 HbH fetuses whose parents selected to continue pregnancy, the rest chose to terminate pregnancy under informed consent. The results of induced labor were consistent with the prenatal diagnosis. 【Conclusion】 Prenatal diagnosis on high-risk couples with the same Thalassemia can effectively block the Bart 's fetal edema and the birth of children with severe Thalassemia.
谭菊芳;李彩云;雷冬竹. 郴州地区103例胎儿地中海贫血产前基因诊断分析[J]. 医学临床研究, 2016, 33(10): 1915-1917.
TAN Ju-fang, LI Cai-yun, LEI Dong-zhu. Prenatal gene diagnosis of Thalassemia of 103 cases in Chenzhou District. JOURNAL OF CLINICAL RESEARCH, 2016, 33(10): 1915-1917.
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2016, Vol. 33 
