The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.

The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.

Date of Patent:
Oct. 03, 2017

Filed:

Jan. 19, 2010
Applicants:

Stephen Quake, Stanford, CA (US);

Hei-mun Christina Fan, Fremont, CA (US);

Inventors:

Stephen Quake, Stanford, CA (US);

Hei-Mun Christina Fan, Fremont, CA (US);

Attorney:
Primary Examiner:
Int. Cl.
CPC ...
G01N 33/50 (2006.01); C12Q 1/68 (2006.01);
U.S. Cl.
CPC ...
C12Q 1/6883 (2013.01); C12Q 1/6809 (2013.01); C12Q 1/6851 (2013.01); C12Q 1/6858 (2013.01); C12Q 1/6881 (2013.01); C12Q 2600/156 (2013.01); C12Q 2600/158 (2013.01); Y10T 436/143333 (2015.01);
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.


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