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.
Patent No.:
Date of Patent:
Sep. 07, 2021
Filed:
May. 20, 2016
Nipd Genetics Public Company Ltd, Nicosia, CY;
George Koumbaris, Lythrodontas, CY;
Elena Kypri, Nicosia, CY;
Kyriakos Tsangaras, Limassol, CY;
Achilleas Achilleos, Limassol, CY;
Petros Mina, Nicosia, CY;
Elisavet A. Papageorgiou, Nicosia, CY;
Philippos C. Patsalis, Nicosia, CY;
NIPD GENETICS PUBLIC COMPANY LTD, Nicosia, CY;
Abstract
The invention provides methods for non-invasive prenatal testing that allow for detecting risk of chromosomal and subchromosomal abnormalities, including but not limited to aneuploidies, microdeletions and microduplications, insertions, translocations, inversions and small-size mutations including point mutations and mutational signatures. The methods of the invention utilize a pool of TArget Capture Sequences (TACS) to enrich for sequences of interest in a mixed sample containing both maternal and fetal DNA, followed by massive parallel sequencing and statistical analysis of the enriched population to thereby detect the risk of a genetic abnormality in the fetal DNA. Kits for carrying out the methods of the invention are also provided.