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/10.1146/annurev-genom-090711-163806 |
引用次数
Web of Sciencehttp://aims.cuhk.edu.hk/converis/portal/Publication/34WOS source URL
Scopushttp://aims.cuhk.edu.hk/converis/portal/Publication/41Scopus source URL
其它资讯
摘要The 15 years since the discovery of fetal DNA in maternal plasma have witnessed remarkable developments in noninvasive prenatal diagnosis. An understanding of biological parameters governing this phenomenon, such as the concentration and molecular size of circulating fetal DNA, has guided its diagnostic applications. Early efforts focused on the detection of paternally inherited sequences, which were absent in the maternal genome, in maternal plasma. Recent developments in precise measurement technologies such as digital polymerase chain reaction (PCR) have allowed the detection of minute allelic imbalances in plasma and have catalyzed analysis of single-gene disorders such as the hemoglobinopathies and hemophilia. The advent of massively parallel sequencing has enabled the robust detection of fetal trisomies in maternal plasma. Recent proof-of-concept studies have detected a chromosomal translocation and a microdeletion and have deduced a genome-wide genetic map of a fetus from maternal plasma. Understanding the ethical, legal, and social aspects in light of such rapid developments is thus a priority for future research. ? 2012 by Annual Reviews. All rights reserved.
着者Lo Y.M.D., Chiu R.W.K.
期刊名称Annual Review of Genomics and Human Genetics
出版年份2012
月份9
日期1
卷号13
出版社Annual Reviews, Inc.
出版地United States
页次285 - 306
国际标準期刊号1527-8204
语言英式英语
关键词Down syndrome screening, fetal DNA in maternal plasma, massively parallel sequencing, noninvasive prenatal diagnosis
