Publication in refereed journal
香港中文大学研究人员 ( 现职)
| 赵慧君教授 (化学病理学系) |
| 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/10.1016/j.tig.2009.05.004 |
引用次数
Web of Sciencehttp://aims.cuhk.edu.hk/converis/portal/Publication/62WOS source URL
其它资讯
摘要Non-invasive prenatal diagnosis of fetal chromosomal aneuploidies and monogenic diseases by analysing fetal DNA present in maternal plasma poses a challenging goal. In particular, the presence of background maternal DNA interferes with the analysis of fetal DNA. Using single molecule counting methods, including digital PCR and massively parallel sequencing, many of the former problems have been solved. Digital mutation dosage assessment can detect the number of mutant alleles a fetus has inherited from its parents for fetal monogenic disease diagnosis, and massively parallel plasma DNA sequencing enables the direct detection of fetal chromosomal aneuploidies from maternal plasma. The analytical power of these methods, namely sensitivity, specificity, accuracy and precision, should catalyse the eventual clinical use of non-invasive prenatal diagnosis.
着者Chiu RWK, Cantor CR, Lo YMD
期刊名称TRENDS IN GENETICS
出版年份2009
月份7
日期1
卷号25
期次7
出版社Elsevier
页次324 - 331
国际标準期刊号0168-9525
语言英式英语
Web of Science 学科类别Genetics & Heredity; GENETICS & HEREDITY
