- 专利标题: Noninvasive prenatal screening using dynamic iterative depth optimization
-
申请号: US15720351申请日: 2017-09-29
-
公开(公告)号: US11854666B2公开(公告)日: 2023-12-26
- 发明人: Dale Muzzey , Carlo G. Artieri , Eric Andrew Evans , Imran Saeedul Haque
- 申请人: Myriad Women's Health, Inc.
- 申请人地址: US CA South San Francisco
- 专利权人: Myriad Women's Health, Inc.
- 当前专利权人: Myriad Women's Health, Inc.
- 当前专利权人地址: US CA South San Francisco
- 代理机构: Foley & Lardner LLP
- 主分类号: G16B20/10
- IPC分类号: G16B20/10 ; G16B20/00 ; G16B30/00 ; G16B40/00 ; G16B30/10 ; G16B40/30 ; G16B20/20 ; C12Q1/6869 ; C12Q1/6883 ; C12Q1/6809
摘要:
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.
公开/授权文献
信息查询