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) |
| 梁德杨教授 (妇产科学系) |
| 陈君赐教授 (化学病理学系) |
| 蔡光伟教授 (妇产科学系) |
| 江培勇教授 (化学病理学系) |
全文
| 数位物件识别号 (DOI) http://dx.doi.org/10.1371/journal.pone.0060968 |
引用次数
Web of Sciencehttp://aims.cuhk.edu.hk/converis/portal/Publication/39WOS source URL
Scopushttp://aims.cuhk.edu.hk/converis/portal/Publication/37Scopus source URL
其它资讯
摘要Fetal DNA is present in the plasma of pregnant women. Massively parallel sequencing of maternal plasma DNA has been used to detect fetal trisomies 21, 18, 13 and selected sex chromosomal aneuploidies noninvasively. Case reports describing the detection of fetal microdeletions from maternal plasma using massively parallel sequencing have been reported. However, these previous reports were either polymorphism-dependent or used statistical analyses which were confined to one or a small number of selected parts of the genome. In this report, we reported a procedure for performing noninvasive prenatal karyotyping at 3 Mb resolution across the whole genome through the massively parallel sequencing of maternal plasma DNA. This method has been used to analyze the plasma obtained from 6 cases. In three cases, fetal microdeletions have been detected successfully from maternal plasma. In two cases, fetal microduplications have been detected successfully from maternal plasma. In the remaining case, the plasma DNA sequencing result was consistent with the pregnant mother being a carrier of a microduplication. Simulation analyses were performed for determining the number of plasma DNA molecules that would need to be sequenced and aligned for enhancing the diagnostic resolution of noninvasive prenatal karyotyping to 2 Mb and 1 Mb. In conclusion, noninvasive prenatal molecular karyotyping from maternal plasma by massively parallel sequencing is feasible and would enhance the diagnostic spectrum of noninvasive prenatal testing. ? 2013 Yu et al.
着者Yu S.C.Y., Jiang P., Choy K.W., Chan K.C.A., Won H.-S., Leung W.C., Lau E.T., Tang M.H.Y., Leung T.Y., Lo Y.M.D., Chiu R.W.K.
期刊名称PLoS ONE
出版年份2013
月份4
日期17
卷号8
期次4
出版社Public Library of Science
出版地United States
国际标準期刊号1932-6203
语言英式英语
