【摘要】 目的:探讨利用孕妇外周血浆中小片段游离胎儿DNA(cf DNA)进行β-地中海贫血无创性产前基因诊断的临床价值。方法:本研究收集了来我院进行产前诊断可能生育重型β-地中海贫血的孕妇24例,抽取绒毛或羊水进行常规的地中海贫血的产前诊断,另外收集孕妇外周血液标本8~10 ml,均使用ACD抗凝,对cf DNA进行二次PCR反应后,对胎儿的β-珠蛋白基因型采取反向斑点杂交(RDB)检测,并与有创伤性产前诊断结果进行比较,分析其结果。结果:所有小片段cf DNA均可顺利扩增,父母基因型相同的8例标本中,诊断符合率为87.5%(7/8),1例正常胎儿误诊为携带者;父母基本型不同的16例标本中,诊断符合率为87.5%(14/16),有2例误诊,其中1例正常胎儿误诊为β-地贫基因携带者,1例β-地贫基因携带者误诊为重型β-地贫患者。结论:利用cf DNA进行β-地中海贫血无创性产前基因诊断具有良好的临床价值。更多还原

【Abstract】 Objective: To explore the clinical value of DNA(cf DNA) in the non invasive prenatal gene diagnosis of betaMediterranean anemia by using small fragment free fetal plasma from peripheral blood of pregnant women. Methods: 24 pregnant women who were,to have severe beta- Mediterranean anemia in our hospital were collected in this study. A routine prenatal diagnosis was made by the extraction of chorionic villi or amniotic fluid, and another diagnosis was made after collecting the peripheral blood samples(8~10 ml) of pregnant woman, and all patients were used the ACD anticoagulation. After two PCR reaction to cf DNA, the beta bead protein gene of the fetus were tested with the reverse dot blot hybridization(RDB) testing, and the results were compared and analyzed with traumatic prenatal diagnosis. Results: All small fragments cf DNA can be successfully amplified, the parental genotypes were identical in 8 specimens, the diagnostic accordance rate was 87.5%(7/8), and 1 normal fetuses were diagnosed as carriers. The diagnostic accuracy was 87.5%(14/16) in 16 samples of parents with different basic types, 2 cases were misdiagnosed, out of which 1 case was misdiagnosed as normal fetal beta thalassemia gene carriers, and 1 patients with beta thalassemia gene carriers misdiagnosed as severe beta thalassemia patients. Conclusion: Use of cf DNA to diagnose the non-invasive prenatal gene diagnosis of β-Mediterranean anemia has very good clinical value.更多还原