Non-invasive prenatal diagnosis of fetal genetic condition using cellular DNA and cell free DNA
US10781485B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Apr 20, 2018 |
| Grant date | Sep 22, 2020 |
| Priority date | — |
| Expiry date | Nov 19, 2038 |
Classification
- Technology area (CPC G)Physics
- CPC primaryG16B40/20
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
Disclosed are methods for determining at least one sequence of interest of a fetus of a pregnant mother. In various embodiments, the method can determine one or more sequences of interest in a test sample that comprises a mixture of fetal cellular DNA and mother-and-fetus cfDNA. In some embodiments, methods are provided for determining whether the fetus has a genetic disease. In some embodiments, methods are provided for determining whether the fetus is homozygous in a disease causing allele when the mother is heterozygous of the same allele. In some embodiments, methods are provided for determining whether the fetus has a copy number variation (CNV) or a non-CNV genetic sequence anomaly.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.