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:
Dec. 26, 2023

Filed:

Sep. 29, 2017
Applicant:

Myriad Women's Health, Inc., South San Francisco, CA (US);

Inventors:

Dale Muzzey, San Francisco, CA (US);

Carlo G. Artieri, San Bruno, CA (US);

Eric Andrew Evans, Brisbane, CA (US);

Imran Saeedul Haque, San Francisco, CA (US);

Assignee:

Myriad Women's Health, Inc., South San Francisco, CA (US);

Attorney:
Primary Examiner:
Int. Cl.
CPC ...
G16B 20/10 (2019.01); G16B 20/00 (2019.01); G16B 30/00 (2019.01); G16B 40/00 (2019.01); G16B 30/10 (2019.01); G16B 40/30 (2019.01); G16B 20/20 (2019.01); C12Q 1/6869 (2018.01); C12Q 1/6883 (2018.01); C12Q 1/6809 (2018.01);
U.S. Cl.
CPC ...
G16B 20/10 (2019.02); C12Q 1/6869 (2013.01); C12Q 1/6883 (2013.01); G16B 20/00 (2019.02); G16B 30/00 (2019.02); G16B 30/10 (2019.02); G16B 40/00 (2019.02); G16B 40/30 (2019.02); C12Q 1/6809 (2013.01); G16B 20/20 (2019.02);
Abstract

Fetal maternal samples taken from pregnant women include both maternal cell-free DNA and fetal cell-free DNA. Described herein are methods for determining a chromosomal abnormality of a test chromosome or a portion thereof in a fetus by analyzing a test maternal sample of a woman carrying said fetus, wherein the test maternal sample comprises fetal cell-free DNA and maternal cell-free DNA. The chromosomal abnormality can be, for example, aneuploidy or the presence of a microdeletion. In some embodiments, the chromosomal abnormality is determined by measuring a dosage of the test chromosome or portion thereof in the test maternal sample, measuring a fetal fraction of cell-free DNA in the test maternal sample, and determining an initial value of likelihood that the test chromosome or the portion thereof in the fetal cell-free DNA is abnormal based on the measured dosage, an expected dosage of the test chromosome or portion thereof, and the measured fetal fraction.


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