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目的:了解玉林市孕妇地中海贫血基因携带状况,提出干预措施。方法:对62 719例孕妇进行地中海贫血筛查,1 260对地贫双阳夫妇进行地贫基因诊断,436例孕妇进行地贫产前诊断数据进行统计分析。结果:玉林市孕妇地中海贫血α型基因携带率为6.45%,β型地中海贫血基因携带率为3.61%。夫妇双方均为同型地中海贫血基因携带者胎儿携带地中海贫血基因检出率70.64%(308/436)。其中,24例α重型,β中间型或重型29例,10例α中间型共63例终止了妊娠,所有终止妊娠的胎儿进行基因诊断核实与产前诊断结果一致。结论:对孕妇地中海贫血筛查、基因诊断,产前胎儿基因诊断是预防重型地中海贫血胎儿活产的有效措施。
Objective: To understand the status of carriers of thalassemia gene in pregnant women in Yulin and to propose intervention measures. Methods: 62 719 pregnant women were screened for thalassemia, 1 260 were diagnosed thalassemia double positive couple for thalassemia, and 436 pregnant women for thalassemia prenatal diagnosis were statistically analyzed. Results: The prevalence of α-thalassemia gene in pregnant women in Yulin city was 6.45%, while that of β-thalassemia gene was 3.61%. The prevalence of thalassemia gene in fetus was 70.64% (308/436) in both couples with homophilic thalassemia carriers. Among them, 24 cases of α heavy, β intermediate or heavy 29 cases, 10 cases of α intermediate type a total of 63 cases of termination of pregnancy, all of the fetus for termination of pregnancy genetic diagnosis and prenatal diagnosis consistent with the results. Conclusion: The screening of pregnant women thalassemia, genetic diagnosis, prenatal diagnosis of fetal genes is an effective measure to prevent fetal liveweight in thalassemia major.