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目的分析探讨桂林地区夫妇双方为同型地中海贫血基因携带的高危孕妇羊水产前诊断胎儿基因型构成情况,避免重型地贫患儿的出生,降低出生缺陷。方法对孕16-22w夫妇为同型地中海基因携带且有可能生育中、重型地中海贫血患儿的高危孕妇进行羊膜腔穿刺术,获取胎儿羊水细胞,应用基因诊断技术对胎儿羊水细胞进行地中海贫血基因诊断。结果 145例地中海贫血高危孕妇羊水产前诊断检出胎儿为α-地中海贫血70例,β-地中海贫血47例,α-与β-地中海贫血13例。其中重型地中海贫血24例,中间型地中海贫血13例,轻型地中海贫血73例,静止型地中海贫血:7例。结论通过对夫妇双方为同型地中海贫血且有可能生育中、重型地中海贫血儿的高危孕妇进行羊水产前诊断,能有效预防中、重型地中海贫血儿的出生,降低出生缺陷,提高人口素质。
Objective To investigate the genotypes of prenatal diagnosis of amniotic fluid in high-risk pregnant women carrying the same type of thalassemia gene in couples in Guilin, to prevent the birth and reduce the birth defects of children with severe thalassemia. Methods Amniocentesis was performed on high-risk pregnant women who were pregnant with 16-24 weeks-old couples with the same type of Mediterranean gene and were likely to give birth to moderate and severe thalassemia. Fetal amniotic fluid cells were obtained and genetic diagnosis of thalassemia gene in fetal amniocytes . Results A total of 145 pregnant women with high risk of thalassemia were diagnosed with prenatal amniotic fluid prenatal diagnosis of 70 cases of α-thalassemia, β-thalassemia in 47 cases, α- and β-thalassemia in 13 cases. Among them, 24 were heavy thalassemia major, 13 were intermediate thalassemia, 73 were thalassemia minor, and 7 were thalassemia major. Conclusions The prenatal diagnosis of prenatal amniotic fluid in pregnant women with the same type of thalassemia and high risk of developing middle and heavy thalassemia can effectively prevent the birth of middle and heavy thalassemia children, reduce the birth defects and improve the population quality.