Invention Grant
- Patent Title: Non-invasive fetal genetic screening by digital analysis
- Patent Title (中): 通过数字分析进行非侵入性胎儿遗传筛选
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Application No.: US12816043Application Date: 2010-06-15
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Publication No.: US09441273B2Publication Date: 2016-09-13
- Inventor: Stephen Quake , Hei-Mun Christina Fan
- Applicant: Stephen Quake , Hei-Mun Christina Fan
- Applicant Address: US CA Palo Alto
- Assignee: The Board of Trustees of the Leland Stanford Junior University
- Current Assignee: The Board of Trustees of the Leland Stanford Junior University
- Current Assignee Address: US CA Palo Alto
- Agency: Rothwell, Figg, Ernst & Manbeck, P.C.
- Main IPC: C12Q1/68
- IPC: C12Q1/68 ; C12P19/34

Abstract:
The present methods are exemplified by a process in which maternal blood containing fetal DNA is diluted to a nominal value of approximately 0.5 genome equivalent of DNA per reaction sample. Digital PCR is then be used to detect aneuploidy, such as the trisomy that causes Down Syndrome. Since aneuploidies do not present a mutational change in sequence, and are merely a change in the number of chromosomes, it has not been possible to detect them in a fetus without resorting to invasive techniques such as amniocentesis or chorionic villi sampling. Digital amplification allows the detection of aneuploidy using massively parallel amplification and detection methods, examining, e.g., 10,000 genome equivalents.
Public/Granted literature
- US20100255493A1 Non-Invasive Fetal Genetic Screening by Digital Analysis Public/Granted day:2010-10-07
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