论文部分内容阅读
目的探讨地中海贫血产前筛查与产前诊断在降低出生缺陷中的应用价值。方法采用血细胞分析联合血红蛋白电泳进行地中海贫血筛查,可疑有地中海贫血者进行基因诊断,对高风险夫妇进行产前诊断。结果在3219对育龄夫妇中,筛查出可疑地中海贫血夫妇184对。经基因确诊84对夫妇可能生育中、重型地中海贫血儿。对已妊娠的66例孕妇进行产前基因诊断,确诊中、重型地中海贫血胎儿20例,均终止妊娠。结论对育龄人群进行地中海贫血筛查,对高危夫妇进行产前诊断是避免重症地中海贫血儿出生的有效的方法。
Objective To investigate the value of prenatal screening and prenatal diagnosis of thalassemia in reducing birth defects. Methods Hemofluorescence analysis combined with hemoglobin electrophoresis for thalassemia screening, genetic diagnosis of suspected thalassemia, prenatal diagnosis of high-risk couples. Results Among 3219 pairs of couples of childbearing age, 184 pairs of suspicious thalassemia were screened out. Gene confirmed that 84 couples may have fertility, heavy thalassemia. 66 cases of pregnant women have been diagnosed prenatal genetic diagnosis of moderate and severe thalassemia major in 20 cases, all terminate the pregnancy. Conclusion The screening of thalassemia in children of childbearing age and prenatal diagnosis of high-risk couples are effective methods to avoid the birth of critically ill children with thalassemia.