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染色体微阵列分析在产前诊断中的应用

2016-12-01 母胎医学会 协和妇产科文献月报.20162(9):27-31.

染色体微阵列分析产前诊断

染色体微阵列分析（chromosomal microarray analysis，CMA）技术是一项高分辨率的全基因组筛查技术，可以检出大多数通过传统核型分析可以检出的染色体不平衡性改变，以及那些被称之为拷贝数变异（copy number variants，CNV）的微小缺失和重复。CNV可导致很多人类疾病，包括神经发育性疾病以及先天性异常，如先天性心脏病。CMA是先天性异常和神经发育性疾病产后诊

中文标题：

染色体微阵列分析在产前诊断中的应用

发布机构：

母胎医学会

发布日期：

2016-12-01

简要介绍：

染色体微阵列分析（chromosomal microarray analysis，CMA）技术是一项高分辨率的全基因组筛查技术，可以检出大多数通过传统核型分析可以检出的染色体不平衡性改变，以及那些被称之为拷贝数变异（copy number variants，CNV）的微小缺失和重复。CNV可导致很多人类疾病，包括神经发育性疾病以及先天性异常，如先天性心脏病。CMA是先天性异常和神经发育性疾病产后诊断的一线检测技术，并被证明在产前诊断中也是一项有价值的诊断技术。CMA可用于未经培养的DNA样本，包括从CVS和羊膜腔穿刺术中获得样本，因此较核型分析的检验周期更快。

译者： 北京协和医院妇产科 戚庆炜

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染色体微阵列分析在产前诊断中的应用
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    2022-02-09 ms9000001870421516

    好

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=1191645, encodeId=707a11916452e, content=好, beContent=null, objectType=guider, channel=null, level=null, likeNumber=101, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=89006491654, createdName=ms9000001870421516, createdTime=Wed Feb 09 23:48:29 CST 2022, time=2022-02-09, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=954516, encodeId=00089545164d, content=受益匪浅！好文章。, beContent=null, objectType=guider, channel=null, level=null, likeNumber=112, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=6c905475903, createdName=湘雅科教, createdTime=Wed Apr 07 13:14:19 CST 2021, time=2021-04-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=897071, encodeId=4ff189e071b0, content=学习, beContent=null, objectType=guider, channel=null, level=null, likeNumber=130, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f68e5404003, createdName=朱玉娟, createdTime=Thu Nov 05 11:47:35 CST 2020, time=2020-11-05, status=1, ipAttribution=)]
    2021-04-07 湘雅科教

    受益匪浅！好文章。

    0

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    2020-11-05 朱玉娟

    学习

    0