发育医学电子杂志  2021, Vol. 9 Issue (6): 475-480 DOI: 10.3969/j.issn.2095-5340.2021.06.015 |
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临床遗传
综述
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| 生物标志物在神经管畸形产前诊断方面的进展及应用 |
| 刘晴 袁正伟 |
中国医科大学附属盛京医院 卫生部小儿先天畸形重点实验室，辽宁 沈阳 110004
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| Progress and application of biomarkers in prenatal diagnosis of neural tube defects |
| Liu Qing, Yuan Zhengwei |
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摘要 神经管畸形（neural tube defects，NTDs）是一种严重的小儿神经系统先天畸形，据报道2015年全
球NTDs患病率为1.86‰，世界不同地区的NTDs患病率为0.75‰～3.12‰［1］。该病于妊娠早期
21～28 d发生，因神经皱襞在中线融合失败，神经管未闭合所致，是最常见和致残率最高的出生
缺陷之一［2］。根据中枢神经组织是否暴露于外部环境，可将神经管缺陷划分为两种类型，即开放
性和闭合性缺陷；根据神经管闭合失败的解剖部位，开放性缺陷又可分为颅轴裂、前脑无脑和脊
髓脊膜膨出，闭合性缺陷又可分为脑膨出、脊膜膨出和隐性脊柱裂［3］。
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| 关键词:
神经管畸形')" href="#">神经管畸形
甲胎蛋白')" href="#">甲胎蛋白
基因')" href="#">基因
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收稿日期: 2020-07-13
发布日期: 2021-11-30
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| 基金资助: 国家自然科学基金（81671469） |
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通讯作者:
袁正伟
E-mail: yuanzw@hotmail.com
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