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) |
| 徐仲?教授 (赛马会公共卫生及基层医疗学院) |
| 梁德杨教授 (妇产科学系) |
| 刘子建教授 (妇产科学系) |
| 庄家俊教授 (赛马会公共卫生及基层医疗学院) |
| 陈君赐教授 (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/10.1073/pnas.0705765104 |
引用次数
Web of Sciencehttp://aims.cuhk.edu.hk/converis/portal/Publication/216WOS source URL
其它资讯
摘要Trisomy 21 is the most common reason that women opt for prenatal diagnosis. Conventional prenatal diagnostic methods involve the sampling of fetal materials by invasive procedures such as amniocentesis. Screening by ultrasonography and biochemical markers have been used to risk-stratify pregnant women before definitive invasive diagnostic procedures. However, these screening methods generally target epiphenomena, such as nuchal translucency, associated with trisomy 21. it would be ideal if noninvasive genetic methods were available for the direct detection of the core pathology of trisomy 21. Here we outline an approach using digital PCR for the noninvasive detection of fetal trisomy 21 by analysis of fetal nucleic acids in maternal plasma. First, we demonstrate the use of digital PCR to determine the allelic imbalance of a SNP on PLAC4 mRNA, a placenta-expressed transcript on chromosome 21, in the maternal plasma of women bearing trisomy 21 fetuses. We named this the digital RNA SNP strategy. Second, we developed a nonpolymorphism-based method for the noninvasive prenatal detection of trisomy 21. We named this the digital relative chromosome dosage (RCD) method. Digital RCD involves the direct assessment of whether the total copy number of chromosome 21 in a sample containing fetal DNA is overrepresented with respect to a reference chromosome. Even without elaborate instrumentation, digital RCD allows the detection of trisomy 21 in samples containing 25% fetal DNA. We applied the sequential probability ratio test to interpret the digital PCR data. Computer simulation and empirical validation confirmed the high accuracy of the disease classification algorithm.
着者Lo YMD, Lun FMF, Chan KCA, Tsui NBY, Chong KC, Lau TK, Leung TY, Zee BCY, Cantor CR, Chiu RWK
期刊名称PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
出版年份2007
月份8
日期7
卷号104
期次32
出版社NATL ACAD SCIENCES
页次13116 - 13121
国际标準期刊号0027-8424
语言英式英语
关键词circulating fetal nucleic acids; noninvasive prenatal diagnosis; RNA SNP; sequential probability ratio test; trisomy 21
Web of Science 学科类别Multidisciplinary Sciences; MULTIDISCIPLINARY SCIENCES; Science & Technology - Other Topics
