Methods and compositions for noninvasive prenatal diagnosis through targeted covalent labeling of genomic sites
- Kryptis: Biotechnologijos
This invention relates to a method that covalently modifies unmodified and hydroxymethylated genomic sites in fetal specific genetic material present in maternal blood DNA samples and produce the adjacent genomic regions for detecting fetal aneuploidies and fetal gender using quantitative real time PCR or sequencing. A large panel of differently labeled sites and regions between maternal and fetal genetic material has been identified and they validity for diagnostic purposes of fetal trisomy of chromosome 21 has been demonstrated.
Inventors: Edita Kriukienė; Juozas Gordevičius; Milda Narmontė; Povilas Gibas
Jurisdiction: PCT