发育医学电子杂志  2019, Vol. 7 Issue (3): 161-167 DOI: 10.3969/j.issn.2095-5340.2019.03.001 |
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围产医学
标准·方案·指南
｜产科
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| 无创产前检测临床应用相关指南解读 |
| 戚庆炜 |
| 中国医学科学院北京协和医院 |
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| Interpretation of relevant guidelines on the clinical application of noninvasive prenatal testing |
| QI Qing-wei |
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摘要 基于游离DNA（cell free DNA，cfDNA）的产前筛查，又称无创产前检测（non-invasive prenatal testing，NIPT）或无创产前筛查（non-invasive prenatal screening，NIPS）。1997 年，香港中文大学Lo 等［1］首次报道在母血中含有cfDNA 片段，而在临床上采用cfDNA 对胎儿染色体非整倍体进行筛查则始于2011 年。2011 年之后，基于大规模平行测序（massively parallel sequencing，
MPS）的NIPT 被迅速应用于产前筛查胎儿21、18 和13 三体综合征，自2013 年以来已快速整合进入产前检查体系。为进一步规范其应用，国内外相关专业团体纷纷提出针对其临床应用的行业指南或专家共识。根据进一步的大样本临床研究数据分析及临床
跟踪随访验证，国内外各专业团体也在不断地对NIPT临床应用指南或专家共识进行更新与修订。现结合NIPT 在临床应用中遇到的常见问题，结合国内外的指南或专家共识进行阐述。
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| 关键词:
无创产前检测
无创产前筛查
限制性胎盘嵌合体
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收稿日期: 2019-03-18
出版日期: 2019-07-30
发布日期: 2019-07-25
期的出版日期: 2019-07-30
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通讯作者:
戚庆炜
E-mail: qiqingwei@163.com
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