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目的降低来宾市“地中海贫血”(以下简称地贫)发生率,减少岀生缺陷发生,提高岀生人口素质。方法通过免费婚检、产检平台对来宾市男女双方地贫基因携带者进行基因诊断、跟踪,怀孕时进行胎儿地贫筛查诊断,发现重型地贫胎儿建议孕妇及时终止妊娠。结果来宾市婚检率、产检率逐年上升,分别由2008年的46.36%和94.14%上升到2011年的94.85%和98.45%;地贫筛查人数也逐年增加,筛查率明显提高;而岀生缺陷发生率逐年下降,从2007年的19.13‰下降到2011年的9.51‰。2011年检岀重型地贫胎儿24例、中间型地贫胎儿14例,轻型地贫胎儿107例。其中24例重型地贫胎儿已全部釆取终止妊娠措施;另有1例α地贫中间型地贫胎儿也釆取了终止妊娠措施,有效减少了地贫胎儿岀生。结论利用免费婚检、产检平台,筛查地贫基因携带者,并且对其进行跟踪,对怀孕者的胎儿进行地贫筛查和基因诊断,发现重型地贫胎儿及时采取终止妊娠,是避免地贫儿岀生、降低岀生缺陷发生率的有效措施。
Objectives To reduce the incidence of Laibin city “Thalassemia ” (hereinafter referred to as thalassemia), reduce the incidence of birth defects and improve the quality of life of students. Methods Through free premarital and antenatal examination platform, genetic diagnosis and follow-up of carriers of thalassemia gene in Laibin city were carried out. The diagnosis of fetal thalassemia was carried out during pregnancy. It was found that pregnant women with severe thalassemia terminal should terminate the pregnancy in time. Results The rate of premarital examination and rate of detection in Laibin increased year by year from 46.36% and 94.14% in 2008 to 94.85% and 98.45% respectively in 2011; the number of thalassemia screening increased year by year with a marked increase in screening rate; The incidence of defects decreased year by year, from 19.13 ‰ in 2007 to 9.51 ‰ in 2011. Twenty-four cases of severe thalassemia were detected in 2011, 14 cases of intermediate-type thalassemia and 107 cases of light-type thalamic. Among them, 24 cases of severe thalassemia have taken complete measures of termination of pregnancy; another case of intermediate thalassemia also took termination of pregnancy measures, effectively reducing the incidence of thalamic abortion. Conclusions The free premarital and antenatal screening platform was used to screen carriers of thalassemia carriers and track them. The screening and genetic diagnosis of thalassemia were carried out in fetuses of pregnant women. It was found that the termination of pregnancy in severe pre-eclampsia was avoided Child Health, reduce the incidence of birth defects effective measures.