产前遗传学诊断技术研究进展

doi:10.3969/j.issn.2095-5340.2019.03.002

发育医学电子杂志

2019, Vol. 7

Issue (3): 168-172 DOI: 10.3969/j.issn.2095-5340.2019.03.002

围产医学专题笔谈｜产科

产前遗传学诊断技术研究进展

潘虹　陈倩

北京大学第一医院

Advances in prenatal genetic diagnosis techniques

PAN Hong, CHEN Qian

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摘要 2012 年9 月发布的《中国出生缺陷防治报告（2012）》中报告，我国出生缺陷率大约为5.6%^［1］。遗传病是引起出生缺陷的重要原因。由于遗传病常常在生命的早期就有所表现，如染色体数目或大片段的结构异常，影响胚胎正常发育，引起胎停育；染色体小片段的结构异常或一些单基因病可能影响不同器官的正常发育和功能，引起宫内影像检查时可见的结构畸形或胎儿生长受限等。一部分疾病通过准确的产前诊断方法能够得以诊断，通过遗传咨询父母有机会选择性生育，从而避免或减少有严重出生缺陷的胎儿出生。这是目前降低出生缺陷的有效方法之一。

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关键词: 产前诊断')" href="#">产前诊断遗传病染色体微阵列分析二代测序

收稿日期: 2019-04-09 出版日期: 2019-07-30 发布日期: 2019-07-26 期的出版日期: 2019-07-30

通讯作者: 潘虹 E-mail: Email：panmuren@263.net）

引用本文:

潘虹　陈倩. 产前遗传学诊断技术研究进展[J]. 发育医学电子杂志, 2019, 7(3): 168-172.
PAN Hong, CHEN Qian. Advances in prenatal genetic diagnosis techniques. Journal of Developmental Medicine(Electronic Version), 2019, 7(3): 168-172.

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[2]	闻小慧　戚红　祝建疆　唐国栋　蔡莉蓉　曾雯　雒瑶. 联合运用分子细胞遗传学技术对染色体微小结构异常胎儿进行产前诊断[J]. 发育医学电子杂志, 2019, 7(4): 264-268,281.
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