Publication in refereed journal
香港中文大学研究人员 ( 现职)
| 卢煜明教授 (化学病理学系) |
全文
| 数位物件识别号 (DOI) http://dx.doi.org/10.1146/annurev-med-091014-115715 |
引用次数
Web of Sciencehttp://aims.cuhk.edu.hk/converis/portal/Publication/15WOS source URL
其它资讯
摘要Noninvasive prenatal testing (NIPT) is accomplished by analysis of circulating cell-free fetal nucleic acids in maternal plasma. The advent of massively parallel sequencing (MPS) has enabled NIPT of chromosomal aneuploidies with unprecedented robustness, and these tests are now widely available for clinical use. Moreover, MPS-based NIPT of subchromosomal deletions/duplications and single-gene disorders has also been achieved, and the number of applications is growing. In addition to specific fetal genetic disorders, the whole fetal genome, transcriptome, and methylome have been revealed by deep sequencing of maternal plasma. The analysis of the fetal transcriptome and methylome may yield valuable information on fetal and maternal health. With continued improvement in sequencing technology and reduction in sequencing costs, the analysis of cell-free nucleic acids would play an increasingly important role in prenatal screening, diagnosis, monitoring, and risk stratification of fetal as well as maternal conditions.
着者Wong FCK, Lo YMD
期刊名称Annual Review of Medicine
出版年份2016
月份1
日期1
卷号67
出版社ANNUAL REVIEWS
页次419 - 432
电子国际标準书号978-0-8243-0567-3
国际标準期刊号0066-4219
语言英式英语
关键词cell-free DNA; methylome; next-generation sequencing; noninvasive prenatal testing; transcriptome
Web of Science 学科类别Medicine, Research & Experimental; Research & Experimental Medicine
