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产前B超、MRI及高通量测序在先天性肾缺如中的应用

钟强 钱雯 张競之 林晓静 潘卫 周遵伦

钟强, 钱雯, 张競之, 林晓静, 潘卫, 周遵伦. 产前B超、MRI及高通量测序在先天性肾缺如中的应用[J]. 分子影像学杂志, 2020, 43(4): 643-646. doi: 10.12122/j.issn.1674-4500.2020.04.19
引用本文: 钟强, 钱雯, 张競之, 林晓静, 潘卫, 周遵伦. 产前B超、MRI及高通量测序在先天性肾缺如中的应用[J]. 分子影像学杂志, 2020, 43(4): 643-646. doi: 10.12122/j.issn.1674-4500.2020.04.19
Qiang ZHONG, Wen QIAN, Jingzhi ZHANG, Xiaojing LIN, Wei PAN, Zunlun ZHOU. Application of prenatal ultrasound, MRI and high-throughput sequencing in congenital renal agenesis[J]. Journal of Molecular Imaging, 2020, 43(4): 643-646. doi: 10.12122/j.issn.1674-4500.2020.04.19
Citation: Qiang ZHONG, Wen QIAN, Jingzhi ZHANG, Xiaojing LIN, Wei PAN, Zunlun ZHOU. Application of prenatal ultrasound, MRI and high-throughput sequencing in congenital renal agenesis[J]. Journal of Molecular Imaging, 2020, 43(4): 643-646. doi: 10.12122/j.issn.1674-4500.2020.04.19

产前B超、MRI及高通量测序在先天性肾缺如中的应用

doi: 10.12122/j.issn.1674-4500.2020.04.19
基金项目: 

贵州省科技支撑计划资助项目 黔科合同支撑[2017]2970

详细信息
    作者简介:

    钟强,在读硕士研究生,E-mail: 815490227@qq.com

    通讯作者:

    周遵伦,主任医师,硕士研究生导师,E-mail: 2689223097@qq.com

Application of prenatal ultrasound, MRI and high-throughput sequencing in congenital renal agenesis

  • 摘要: 肾缺如是一种罕见的先天性出生缺陷,单肾缺如发病率约为1‰,双肾缺如发病率为0.1‰~0.3‰,遗传是其主要致病因素,但其发病机制尚不明确。临床上,大多数肾缺如胎儿并不具有典型的体征和症状,同时也缺乏高特异性的诊断指标。目前,肾缺如的胎儿往往是孕妇在孕中晚期产检时,通过产前B超检查被发现,少数孕妇会选择进一步完善MRI进行确诊。因此,临床实践中肾缺如的产前诊断具有明显的局限性。近年来,随着高通量测序技术的发展,拷贝数变异测序和全外显子测序等技术逐渐被广泛运用于妇产与遗传学科领域。高通量测序技术用于胎儿产前诊断,具备母胎安全性高、准确性高、操作简便等优势,不仅为肾缺如的产前诊断方式提供了新的选择,也为探索其遗传病因及相关机制提供了科学依据。本文将就正常胚胎肾脏发育以及产前B超、MRI、拷贝数变异测序和全外显子测序等相关产前诊断技术在肾缺如中的应用进行综述。

     

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  • 收稿日期:  2020-06-13
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