全基因组扩增技术在产前诊断中的应用

发布时间：2018-09-19 13:24

【摘要】：目的:探讨全基因组扩增技术(WGA)结合微阵列比较基因组杂交技术(Array-CGH)在低DNA浓度的产前样本中的应用价值。方法:对18例有产前诊断指征的孕妇进行侵入性产前诊断,所抽取的羊水或绒毛样本经DNA提取后因DNA浓度较低行全基因组扩增,再应用微阵列比较基因组杂交技术分析。结果:所检测的18例样本中,有3例异常,均提示为45,X0,其余芯片结果正常。随访15例正常a CGH结果的胎儿,有9例出生后正常。结论:应用WGA技术辅助微阵列比较基因组杂交技术对早孕期超声提示异常的胎儿进行产前诊断是可行的,它不仅缩短了发报告的时间也保持了应用a CGH技术检测的敏感性和精确性。
[Abstract]:Objective: to investigate the application value of whole genome amplification technique (WGA) combined with microarray comparative genomic hybridization (Array-CGH) in prenatal samples with low DNA concentration. Methods: invasive prenatal diagnosis was performed in 18 pregnant women with prenatal diagnosis indications. The samples of amniotic fluid or chorionic villi were extracted by DNA and amplified by whole genome because of low DNA concentration. The microarray comparative genomic hybridization technique was used to analyze them. Results: of the 18 samples detected, 3 cases were abnormal, all of them showed 45 X 0. The results of the other chips were normal. Of the 15 normal CGH fetuses, 9 were normal postnatal. Conclusion: WGA assisted microarray comparative genomic hybridization is feasible for prenatal diagnosis of fetuses with abnormal early pregnancy. It not only shortens the reporting time, but also maintains the sensitivity and accuracy of using a CGH technique.
【作者单位】：广东省生殖医学重点实验室、广东省产科重大疾病重点实验室、广东省普通高校生殖与遗传重点实验室、广州医科大学附属第三医院生殖医学中心;广东省生殖医学重点实验室、广东省产科重大疾病重点实验室、广东省普通高校生殖与遗传重点实验室、广州医科大学附属第三医院妇产科研究所;
【基金】：广东省科技计划项目(编号:2013B022000005) 广州市科技计划项目(编号:穗科信字[2014]234号)
【分类号】：R714.5;R440

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