遗传性耳聋基因筛查规范

2021-01-12 中华医学杂志.2021.101(2):97-102.

基因筛查是实现疾病群体预防、早诊断、早干预的重要举措。遗传性耳聋基因筛查在我国开展已有10余年,在预防耳聋出生缺陷、减少听力言语残疾中发挥了重要作用。随着遗传性耳聋研究的深入、筛查技术的发展、筛查工具

中文标题:

遗传性耳聋基因筛查规范

发布机构:

发布日期:

2021-01-12

简要介绍:

基因筛查是实现疾病群体预防、早诊断、早干预的重要举措。遗传性耳聋基因筛查在我国开展已有10余年,在预防耳聋出生缺陷、减少听力言语残疾中发挥了重要作用。随着遗传性耳聋研究的深入、筛查技术的发展、筛查工具的更新、实验室条件的完善及政府政策的支持,形成了更多具有遗传咨询资质的医师队伍,开展遗传性耳聋基因筛查的地区逐渐增多。目前已覆盖中国大部分省份的主要城市,受检人群从最初的耳聋患者或耳聋高危家庭成员转变为覆盖新生儿、婚前、孕前、产前的大规模人群筛查,并且技术方法逐步多样化。本文围绕耳聋基因筛查原则、流程、技术方法、报告解读、遗传咨询等方面进行阐述,旨在为从事此项工作的专业人员提供指导性意见,规范中国的耳聋基因筛查及筛查后的工作流程,使耳聋基因筛查更有效地服务于耳聋的早期诊断、治疗和预防。

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#插入话题
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    2021-03-10 ms4000000393344335

    学习了

    0

  2. [GetPortalCommentsPageByObjectIdResponse(id=947246, encodeId=b70294e246ae, content=学习了, beContent=null, objectType=guider, channel=null, level=null, likeNumber=82, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=ecd35465654, createdName=ms4000000393344335, createdTime=Wed Mar 10 21:55:29 CST 2021, time=2021-03-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=926528, encodeId=b13d92652853, content=意义很重要, beContent=null, objectType=guider, channel=null, level=null, likeNumber=90, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/Q0j4TwGTfTKsCFCNsYeQhwGsLhbrKVQGbfbgiaichQoH68fSWzZzWppuIC1gyXrKAtozcdOTsk5e2IW9vibnxAhdQ/132, createdBy=3ef92098568, createdName=Dr xiaowu, createdTime=Tue Feb 23 08:30:28 CST 2021, time=2021-02-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=926515, encodeId=5ce0926515a3, content=意义很大, beContent=null, objectType=guider, channel=null, level=null, likeNumber=89, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20210127/50a003c4097845e182c08afd64d8a509/bd766dfebe9c40e0bca2dae964601bdc.jpg, createdBy=22de5454917, createdName=carrotlyl, createdTime=Tue Feb 23 06:39:13 CST 2021, time=2021-02-23, status=1, ipAttribution=)]
    2021-02-23 Dr xiaowu

    意义很重要

    0

  3. [GetPortalCommentsPageByObjectIdResponse(id=947246, encodeId=b70294e246ae, content=学习了, beContent=null, objectType=guider, channel=null, level=null, likeNumber=82, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=ecd35465654, createdName=ms4000000393344335, createdTime=Wed Mar 10 21:55:29 CST 2021, time=2021-03-10, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=926528, encodeId=b13d92652853, content=意义很重要, beContent=null, objectType=guider, channel=null, level=null, likeNumber=90, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/Q0j4TwGTfTKsCFCNsYeQhwGsLhbrKVQGbfbgiaichQoH68fSWzZzWppuIC1gyXrKAtozcdOTsk5e2IW9vibnxAhdQ/132, createdBy=3ef92098568, createdName=Dr xiaowu, createdTime=Tue Feb 23 08:30:28 CST 2021, time=2021-02-23, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=926515, encodeId=5ce0926515a3, content=意义很大, beContent=null, objectType=guider, channel=null, level=null, likeNumber=89, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20210127/50a003c4097845e182c08afd64d8a509/bd766dfebe9c40e0bca2dae964601bdc.jpg, createdBy=22de5454917, createdName=carrotlyl, createdTime=Tue Feb 23 06:39:13 CST 2021, time=2021-02-23, status=1, ipAttribution=)]
    2021-02-23 carrotlyl

    意义很大

    0

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