羊水细胞原位培养法在β-珠蛋白生成障碍性贫血产前诊断中的应用

Application of amniotic fluid cells in situ cultivation for prenatal diagnosis of β thalassemia

目的探讨羊水细胞原位培养法在β-珠蛋白生成障碍性贫血产前诊断中的应用价值。方法对羊水细胞进行原位培养,应用培养后细胞,采用聚合酶链反应,结合反向点杂交技术检测β-珠蛋白生成障碍性贫血突变类型。结果 426例羊水细胞均培养成功,共检出β-珠蛋白生成障碍性贫血302例,26种基因型。其中纯合子30例,双重杂合子71例,杂合子201例。胎儿合并α-珠蛋白生成障碍性贫血杂合子27例,其中Hb Bart′s水肿胎9例,HbH病1例。结论在孕中期行羊膜腔穿刺术获取羊水细胞,对羊水细胞进行原位培养,利用培养细胞进行β-珠蛋白生成障碍性贫血基因诊断,避免因母体血污染、多次取材导致重型珠蛋白生成障碍性贫血胎儿的误诊或漏诊,可准确地检出各类β-珠蛋白生成障碍性贫血基因型。

Objective To investigste the value of amniotic fluid cells in situ cultivation for prenatal diagnosis of β thalassemia（thal）.Methods Amniotic fluid cells in situ cultivation were used to detect the β globin genotypes using the polymerase chain reaction followed by reverse dot blot hybridization.Results 426 specimens were cultivated successfully.26 different genotypes were identified in 302 gravidas with β thal.30 cases were homozygot β thal.71 cases were double heterozygote β-thal.201 case were heterozygote β thal.There were 27 fetuses compounded with α-thal.9 cases of Hb Bart′s hydrops fetalis syndrome and 1 caseof Hb H diseasd were included.Conclusion Using the amniotic fluid cells in situ cultivation to detect β-globin genotypes,which can detect fefus with homozygot and double heterozygote β-thal accurately,can avoid misdiagnosis or misseddiagnosis caused by maternal blood cells.