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目的探讨羊水产前诊断在检测中、重型地中海贫血胎儿中的应用,以此降低出生缺陷。方法应用跨越断裂点PCR(Gap-PCR)法以及反向点杂交技术(RDB-PCR),对2226例孕妇羊水进行产前地贫基因检测。结果检测出正常胎儿575例占比例25.8%,异常胎儿1651例占比例74.2%。其中Bart′s水肿胎137例,血红蛋白H病180例,中、重型β-地贫96例,中、重型α复合β地贫46例。结论高危人群在孕中期行羊水产前诊断可以有效地阻止中、重型地贫患儿的出生,从而降低出生缺陷。
Objective To investigate the application of amniotic fluid prenatal diagnosis in detection of fetal thalassemia major, in order to reduce birth defects. Methods A total of 2226 pregnant women with amniotic fluid were tested for prenatal thalassemia gene using Gap-PCR and RDB-PCR. The results showed that 575 normal fetuses accounted for 25.8%, abnormal fetuses 1651 cases accounted for 74.2%. Among them, 137 cases of Bart’s edema, hemoglobin H disease in 180 cases, 96 cases of moderate and severe β-thalassemia, and 46 cases of moderate and severe α-thalassemia. Conclusion The diagnosis of prenatal amniotic fluid in middle-term pregnant women can effectively prevent the birth of middle- and heavy-weight thalassemia children and thus reduce the birth defects.