Method capable of differentiating fetal sex and fetal sex chromosome abnormality on various platforms
US11339426B2 · kind B2 · utility
Assignee
Inventors
Key dates
| Filing date | Aug 8, 2016 |
| Grant date | May 24, 2022 |
| Priority date | — |
| Expiry date | Mar 20, 2039 |
Classification
- Technology area (CPC G)Physics
- CPC primaryG16B40/00
- WIPO fieldComputer technology
- WIPO sectorElectrical engineering
Abstract
The present invention relates to a method capable of, in order to diagnose fetal sex chromosome aneuploidy, differentiating Kleinfeiter's syndrome (XXY), triple X syndrome (XXX), and Turner's syndrome (monosomy X, XO) as well as male (XY) and female (XX) by using copy number variation (CNV). The differentiation method according to the present invention has significantly high sensitivity and accuracy since the reference line is evenly adjusted by performing normalization regardless of the kinds of platform and data. The present invention is useful in diagnosing the sex chromosome abnormality at an early stage through easy diagnosis of sex chromosomes X and Y, which are hard to diagnose, since an analysis is possible even with a small amount of fetal chromosomes, which corresponds to an advantage of noninvasive prenatal diagnosis, and copies are redundant.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.