孕妇小片段游离胎儿DNA进行β-地中海贫血无创性产前基因诊断

浏览数:338次

分享到：

微信

新浪微博

赵娟李辉^※张成芳沈菲陈广新

（广州市花都区人民医院，广东广州，510800）

中图分类号：R714.5 文献标识码：A 文章编号：1674-7860（2016）12-0049-03 证型：BGA

【摘要】目的：探讨利用孕妇外周血浆中小片段游离胎儿DNA（cfDNA）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cfDNA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cfDNA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cfDNA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。

【关键词】cfDNA；β-地中海贫血；无创性；产前基因诊断

【Abstract】Objective: To explore the clinical value of DNA (cfDNA)in the non invasive prenatal gene diagnosis of beta- Mediterranean anemia byusing small fragment free fetal plasma from peripheral blood of pregnant women.Methods: 24 pregnant women who were ,to have severe beta- Mediterranean anemiain our hospital were collected in this study. A routine prenatal diagnosis wasmade by the extraction of chorionic villi or amniotic fluid, and anotherdiagnosis was made after collecting the peripheral blood samples (8～10 ml) of pregnant woman, and all patients were usedthe ACD anticoagulation. After two PCR reaction to cfDNA, the beta bead proteingene 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 cfDNA can be successfully amplified, the parental genotypeswere identical in 8 specimens, the diagnostic accordance rate was 87.5% (7/8), and1 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 weremisdiagnosed, out of which 1 case was misdiagnosed as normal fetal betathalassemia gene carriers, and 1 patients with beta thalassemia gene carriersmisdiagnosed as severe beta thalassemia patients. Conclusion: Use of cfDNA todiagnose the non-invasive prenatal gene diagnosis of β-Mediterranean anemia has very good clinicalvalue.

【Keywords】cfDNA; β-Mediterranean anemia; Noninvasive; Prenatalgene diagnosis

doi:10.3969/j.issn.1674-7860.2016.12.023

参考文献：

[1]陈永春,陈小梅,许桢,等.膳食食物宣教对住院糖尿病患者饮食行为的影响研究[J].中国全科医学,2012,15(4):1607-1610.