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BMJ:出生缺陷的病因和临床表现!

2017-06-02 xing.T MedSci原创

这些发现强调了研究人员对出生缺陷原因认识的差距。对于已知的原因,如吸烟或糖尿病,分配病因在个别情况下仍然具有挑战性。然而,这些风险暴露对胎儿发育的持续影响突出了以人群为基础的预防干预措施的紧迫性和益处。对于病因尚不清楚的患儿,需要更好的策略。

近日,顶级杂志BMJ上发表了一篇研究文章,研究人员旨在评估主要出生缺陷的原因和临床表现。

该研究是一项基于人群的病例队列。研究人员通过犹太人群为基础监测系统确定了在2005年至2009年出生的缺陷患儿,所有记录均进行临床复查。研究对象为270878名出生儿童中的5504名出生缺陷患儿(患病率为2.03%),不包括轻微的孤立性疾病(如肌部室间隔缺损、远端尿道下裂)。该研究的结局指标为已知病因(如染色体、遗传、人类致畸和孪生)或病因不明的出生缺陷比例,通过形态学(孤立性、多发性、只是轻微)以及通过发病机制(序列、发育缺陷或已知的出生缺陷模式)来确定。

20.2%名患儿(n=1114)具有明确的原因:染色体或遗传性疾病占94.4%(n=1052),致畸性疾病占4.1%(n=46,主要为控制不佳的孕前糖尿病)和孪生1.4%(n=16,连体或无心)。其余79.8%的患儿(n=4390)被列为病因不明,其中88.2%(n=3874)的病因不明患儿为孤立性出生缺陷。家族史(受一级亲属相似的影响)被证实存在于4.8%的患儿(n=266)。在这个队列中,92.1%(5067/5504)是活产婴儿(孤立和非孤立的出生缺陷):75.3%(4147/5504)被归类为孤立性出生缺陷(病因不明或已知病因)。

这些发现强调了研究人员对出生缺陷原因认识的差距。对于已知的原因,如吸烟或糖尿病,分配病因在个别情况下仍然具有挑战性。然而,这些风险暴露对胎儿发育的持续影响突出了以人群为基础的预防干预措施的紧迫性和益处。对于病因尚不清楚的患儿,需要更好的策略。这些包括病因、形态学和发病机制的关键因素更大范围的整合;研究者(如发育生物学家)、临床医生(如医学遗传学家)和流行病学家之间更广泛的合作;更好的方法来客观地测量胎儿暴露(不仅仅产妇自我报告)以及更加接近(产前)器官形成的关键期等。

原始出处:

Marcia L Feldkamp, et al. Etiology and clinical presentation of birth defects: population based study. BMJ 2017; https://doi.org/10.1136/bmj.j2249

本文系梅斯医学(MedSci)原创编译整理,转载需授权!

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    2017-07-11 gaoxiaoe
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    2017-07-06 1dd8c52fm63(暂无匿称)

    了解了解

    0

  3. [GetPortalCommentsPageByObjectIdResponse(id=1848322, encodeId=89d61848322ce, content=<a href='/topic/show?id=2977356edc' target=_blank style='color:#2F92EE;'>#BMJ#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=70, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=3567, encryptionId=2977356edc, topicName=BMJ)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=148754, createdName=gaoxiaoe, createdTime=Tue Jul 11 08:54:00 CST 2017, time=2017-07-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=219032, encodeId=f88e219032df, content=了解了解, beContent=null, objectType=article, channel=null, level=null, likeNumber=98, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=93f31631454, createdName=1dd8c52fm63(暂无匿称), createdTime=Thu Jul 06 07:15:58 CST 2017, time=2017-07-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=206207, encodeId=df2920620e11, content=谢谢了,学习, beContent=null, objectType=article, channel=null, level=null, likeNumber=99, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=30331616752, createdName=txqjm, createdTime=Sun Jun 04 06:13:24 CST 2017, time=2017-06-04, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=205883, encodeId=a58a2058834c, content=学习啦谢谢分享, beContent=null, objectType=article, channel=null, level=null, likeNumber=103, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3zSn0GqHrsfLK1wzJZRTON4gxYUibhUyOypBwMibC4R7SsppicGhz5Ogoy0VVq4CWnqaD2Moeib8RWxI5lOiaVmnxpan/0, createdBy=c53f1730331, createdName=tanxingdoctor, createdTime=Sat Jun 03 08:07:28 CST 2017, time=2017-06-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=205837, encodeId=aa3720583e6c, content=以后基因检测越来越先进, beContent=null, objectType=article, channel=null, level=null, likeNumber=93, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/ajNVdqHZLLDcohE5MKT1FYlH69x7qib45icLgBDMANxIiauEA62nuQI1eE8Ez2rO3yqOkRLH6ha6Lw0x1IBRm0N7g/0, createdBy=e1ff2033933, createdName=187****0626, createdTime=Sat Jun 03 06:56:23 CST 2017, time=2017-06-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=205794, encodeId=0d41205e9435, content=除了婚前检查,产前检查,这些填表也是预防的一项重要措施。, beContent=null, objectType=article, channel=null, level=null, likeNumber=102, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/xkvRjYnJzzRJ2R0y7VhicibvkjPWHjIMmu4ZpKnE9cWAu4lVicS3uDUCfF4M4JWvrkrYfpb2KehPV0Ee29tPqyPEebBUibiaKhnvD/0, createdBy=f8412001184, createdName=惠映实验室, createdTime=Sat Jun 03 00:25:45 CST 2017, time=2017-06-03, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=205754, encodeId=c928205e5414, content=很不错,学习了!谢谢分享!, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NdqKgfW3nMpOkC3jXxiaW2po0PtglY5ZuVjERqKADW4HyMI8bcZXWlKgH7tEP9ULBoBzuQMibia4pr1s9rQPqLvqQJ/0, createdBy=e8c02060444, createdName=中医痴, createdTime=Fri Jun 02 23:49:47 CST 2017, time=2017-06-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=205750, encodeId=4747205e50b7, content=感谢梅斯医学,受教了, beContent=null, objectType=article, channel=null, level=null, likeNumber=45, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/icyLhIGqru6gIknBJqfuPhbPwBo0yCebU4qpdSwzpBA1WFXMEUicoTnJDickpj9Ve1cUdNjjTiaDXmpXL47LYh3DdYkPOA2kddyZ/0, createdBy=508c2054450, createdName=solarjin, createdTime=Fri Jun 02 23:23:31 CST 2017, time=2017-06-02, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=205742, encodeId=274e205e42d8, content=学习了,涨知识, beContent=null, objectType=article, channel=null, level=null, likeNumber=67, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://img.medsci.cn/20220115/46bcf39c32de4aa6b45c5f9d66c8ee77/6cb4a20c55bb4b7691122f47747bfca2.jpg, createdBy=9dad1662329, createdName=1ddf0692m34(暂无匿称), createdTime=Fri Jun 02 22:58:47 CST 2017, time=2017-06-02, status=1, ipAttribution=)]
    2017-06-04 txqjm

    谢谢了,学习

    0

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    2017-06-03 tanxingdoctor

    学习啦谢谢分享

    0

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    2017-06-03 187****0626

    以后基因检测越来越先进

    0

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    2017-06-03 惠映实验室

    除了婚前检查,产前检查,这些填表也是预防的一项重要措施。

    0

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    2017-06-02 中医痴

    很不错,学习了!谢谢分享!

    0

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    2017-06-02 solarjin

    感谢梅斯医学,受教了

    0

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    2017-06-02 1ddf0692m34(暂无匿称)

    学习了,涨知识

    0

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