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目的:了解同型地中海贫血(简称地贫)基因携带者夫妇胎儿基因诊断情况,为遗传咨询提供依据。方法:2008年5月~2014年12月在本院确诊均为同型地贫基因携带者夫妇269对(同为α地贫基因携带者177对,同为β地贫基因携带者87对,其中一方为复合α、β地贫携带者5对),通过胎儿绒毛、羊水、脐血获取胎儿标本提取DNA,应用Gap-PCR和PCR结合反向斑点杂交技术等方法进行α、β地贫基因诊断,胎儿标本同时行染色体核型分析。产前诊断后1年随访妊娠结局。结果:177对α地贫基因携带者夫妇产前基因诊断结果为46例(26.0%)正常;68例(38.4%)杂合子;63例(35.7%)严重型地贫基因,其中55例巴氏水肿胎(51例东南亚缺失型纯合子,4例少见泰国缺失型α地贫1和东南亚型双重杂合子),8例HbH病。87对β地贫基因携带者夫妇产前基因诊断结果为23例(26.4%)正常;39例(44.8%)杂合子;25例(28.7%)严重型地贫基因,其中9例纯合子及16例双重杂合子。5对一方为复合α、β地贫携带者夫妇中产前基因诊断结果正常1例,地贫杂合子2例,α、β复合地贫1例,β地贫双重杂合子1例。266例胎儿细胞染色体核型分析正常,3例胎儿核型异常,分别为21三体1例、13三体1例、45,X1例。63例严重类型α地贫胎儿、26例严重类型β地贫胎儿、3例染色体异常胎儿均在孕期引产。结论:同型地贫基因携带者夫妇胎儿基因诊断可检出Hb Bart’s胎儿水肿综合征、Hb H病等重中型α地贫胎儿,以及β地贫纯合子、双重杂合子重型β地贫胎儿,应重视罕见突变基因型的检测,检测地贫基因同时应行染色体检查以排除染色体病。
Objective: To understand the fetal genetic diagnosis of couples with hom thalassemia (thalassemia) carriers and to provide evidence for genetic counseling. Methods: From May 2008 to December 2014, 269 couples were diagnosed as homozygous thalassemia carriers in our hospital (177 pairs were carriers of α-thalassemia gene, 87 pairs were carriers of β-thalassemia gene, of which, One is compound α, β thalassemia carriers 5 pairs), fetus samples obtained from fetal villi, amniotic fluid, cord blood DNA extraction, Gap-PCR and PCR combined with reverse dot blot hybridization techniques for the diagnosis of α, β thalassemia , Fetal specimens at the same time chromosome karyotype analysis. One year follow-up of pregnancy outcome after prenatal diagnosis. Results: Of the 177 carriers of α thalassemia family, 46 cases (26.0%) were diagnosed as normal, 68 (38.4%) were heterozygous and 63 (35.7%) were severe thalassemia genes. Among them, 55 (51 cases of missing homozygote in Southeast Asia, 4 cases of rare thalassemia thalassemia 1 and Southeast Asian double heterozygote) and 8 cases of HbH disease. Among the 87 carriers of β thalassemia gene, 23 cases (26.4%) were diagnosed as normal, 39 (44.8%) were heterozygous and 25 (28.7%) were severe thalassemia genes, of which 9 were homozygous 16 cases of double heterozygotes. Five cases were diagnosed as having a prenatal diagnosis of one case, two cases of thalassemia heterozygotes, one case of α and β thalassemia and one case of β thalassemia heterozygote in couples who had a combination of α, β thalassemia carriers. 266 cases of fetal cell chromosome karyotype analysis of normal, 3 cases of fetal karyotype abnormalities were 21 trisomy in 1 case, 13 trisomy in 1 case, 45, X1 cases. 63 cases of α-thalassemia major, 26 cases of severe type β-thalassemia, and 3 cases of chromosomal abnormalities were induced during pregnancy. CONCLUSION: Fetal genetic diagnosis of couples with homotrophic thalassemia carriers can detect Hb Bart’s fetal edema syndrome, Hb H disease and other severe α-thalamic fetuses, as well as beta thalassemia homozygotes and double heterozygote Attention should be paid to the detection of rare mutation genotypes and the detection of thalassemia genes should also be performed on chromosomes to rule out chromosome disease.