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/10.1515/CCLM.2011.765 |
引用次数
Web of Sciencehttp://aims.cuhk.edu.hk/converis/portal/Publication/3WOS source URL
Scopushttp://aims.cuhk.edu.hk/converis/portal/Publication/6Scopus source URL
其它资讯
摘要Fetal DNA is present at an approximate mean fractional concentration of 10 % in the plasma of pregnant women. The detection of paternally-inherited DNA sequences that are absent in the maternal genome, e.g., Y chromosomal sequences for fetal sexing and the RHD gene for blood group genotyping, is well established. The recent emergence of single molecule counting technologies, such as digital polymerase chain reaction and massively parallel sequencing has allowed circulating fetal DNA to be used for the non-invasive prenatal diagnosis of fetal chromosomal aneuploidies and monogenic diseases. With large scale clinical validation and further reduction in costs, it is expected that the analysis of circulating fetal DNA will play an increasingly important role in the future practice of prenatal diagnosis. ? 2012 by Walter de Gruyter ?Berlin ? Boston.
着者Lo Y.M.D.
期刊名称Clinical Chemistry and Laboratory Medicine
出版年份2012
月份http://aims.cuhk.edu.hk/converis/portal/Publication/6
日期1
卷号50
期次http://aims.cuhk.edu.hk/converis/portal/Publication/6
出版社Walter de Gruyter GmbH
出版地Germany
页次995 - 998
国际标準期刊号14http://aims.cuhk.edu.hk/converis/portal/Publication/34-http://aims.cuhk.edu.hk/converis/portal/Publication/6http://aims.cuhk.edu.hk/converis/portal/Publication/621
电子国际标準期刊号14http://aims.cuhk.edu.hk/converis/portal/Publication/37-4http://aims.cuhk.edu.hk/converis/portal/Publication/3http://aims.cuhk.edu.hk/converis/portal/Publication/31
语言英式英语
关键词Circulating nucleic acids, Down syndrome, Next-generation sequencing, Noninvasive prenatal diagnosis, Plasma DNA, Prenatal screening
