郴州地区103例胎儿地中海贫血产前基因诊断分析

Prenatal gene diagnosis of Thalassemia of 103 cases in Chenzhou District

[目的]通过对孕妇进行产前地中海贫血（简称地贫）基因分析，以避免中、重型地贫患儿出生，降低出生缺陷。[方法]收集2013年1月至2015年4月在本院确诊的同型地贫高风险夫妇103对，根据孕妇妊娠月份抽取羊水或脐带血进行胎儿地贫基因分析。采用Gap—PCR技术检测3种常见缺失型α-地贫，PCR-RDB技术检测17种常见β-地贫及3种非缺失型α-地贫。[结果]同型地贫高危夫妇103对，90例接受产前诊断，产前基因诊断率87．38％。检出重型α地贫胎儿12例（13．33％），中间型α地贫胎儿8例（8．89％），中重型β地贫胎儿14例（15．56％）。经产前诊断检出的中重型地贫胎儿中，除3例血红蛋白H病（HbH）病胎儿家属选择继续妊娠，其余均在知情同意下终止妊娠。引产标本结果与产前诊断一致。[结论]对同型地贫高危夫妇行产前诊断，可有效阻断Bart’s胎儿水肿及中、重型β地贫患儿的出生。

[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.