Publication in refereed journal
香港中文大学研究人员 ( 现职)
| 陈君赐教授 (化学病理学系) |
| 江培勇教授 (化学病理学系) |
| 孙坤教授 (化学病理学系) |
全文
| 数位物件识别号 (DOI) http://dx.doi.org/10.1586/14737159.2015.1084227 |
引用次数
Web of Sciencehttp://aims.cuhk.edu.hk/converis/portal/Publication/3WOS source URL
其它资讯
摘要The discovery of cell-free DNA molecules in maternal plasma has opened up numerous opportunities for noninvasive prenatal testing. The advent of new digital counting technologies, including digital polymerase chain reaction and massive parallel sequencing, has provided the opportunity to quantify the cell-free DNA molecules in maternal plasma in an unprecedentedly precise manner. Powered by these technologies, prenatal testing of different kinds of hereditary conditions, ranging from monogenic diseases to chromosome aneuploidies, has been shown to be possible through the analysis of maternal plasma DNA. Discussed here are the principles of the approaches used in the noninvasive testing of different fetal conditions, with an emphasis on the impact that different digital DNA counting strategies have made on the development of these tests.
着者Sun K, Jiang PY, Chan KCA
期刊名称Expert Review of Molecular Diagnostics
出版年份2015
月份10
日期http://aims.cuhk.edu.hk/converis/portal/Publication/3
卷号15
期次10
出版社TAYLOR & FRANCIS LTD
页次1261 - 1268
国际标準期刊号147http://aims.cuhk.edu.hk/converis/portal/Publication/3-7159
电子国际标準期刊号1744-8http://aims.cuhk.edu.hk/converis/portal/Publication/352
语言英式英语
关键词cell-free fetal DNA; digital PCR; massive parallel sequencing; maternal plasma; NIPT
Web of Science 学科类别Pathology
