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1. (WO2019025004) A METHOD FOR NON-INVASIVE PRENATAL DETECTION OF FETAL SEX CHROMOSOMAL ABNORMALITIES AND FETAL SEX DETERMINATION FOR SINGLETON AND TWIN PREGNANCIES
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Pub. No.: WO/2019/025004 International Application No.: PCT/EP2017/069795
Publication Date: 07.02.2019 International Filing Date: 04.08.2017
IPC:
C12Q 1/6869 (2018.01) ,G06F 19/18 (2011.01) ,G06F 19/22 (2011.01) ,C12Q 1/6879 (2018.01)
[IPC code unknown for C12Q 1/6869]
G PHYSICS
06
COMPUTING; CALCULATING; COUNTING
F
ELECTRIC DIGITAL DATA PROCESSING
19
Digital computing or data processing equipment or methods, specially adapted for specific applications
10
Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
18
for functional genomics or proteomics, e.g. genotype-phenotype associations, linkage disequilibrium, population genetics, binding site identification, mutagenesis, genotyping or genome annotation, protein-protein interactions or protein-nucleic acid interactions
G PHYSICS
06
COMPUTING; CALCULATING; COUNTING
F
ELECTRIC DIGITAL DATA PROCESSING
19
Digital computing or data processing equipment or methods, specially adapted for specific applications
10
Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
22
for sequence comparison involving nucleotides or amino acids, e.g. homology search, motif or SNP [Single-Nucleotide Polymorphism] discovery or sequence alignment
[IPC code unknown for C12Q 1/6879]
Applicants:
TRISOMYTEST, S.R.O. [SK/SK]; Ilkovicova 8 841 04 Bratislava - Karlova Ves, SK
Inventors:
DURIS, Frantisek; SK
GAZDARICA, Juraj; SK
KUCHARIK, Marcel; SK
HYBLOVA, Michaela; SK
SZEMES, Tomas; SK
BUDIS, Jaroslav; SK
Agent:
HAK, Roman; CZ
Priority Data:
Title (EN) A METHOD FOR NON-INVASIVE PRENATAL DETECTION OF FETAL SEX CHROMOSOMAL ABNORMALITIES AND FETAL SEX DETERMINATION FOR SINGLETON AND TWIN PREGNANCIES
(FR) PROCÉDÉ DE DÉTECTION PRÉNATALE NON INVASIVE D'ANOMALIES CHROMOSOMIQUES DU SEXE DU FŒTUS ET DE DÉTERMINATION DU SEXE DU FŒTUS EN VUE D'UNE GROSSESSE UNIQUE ET D'UNE GROSSESSE GÉMELLAIRE
Abstract:
(EN) The invention relates generally to the field of non-invasive prenatal screening and diagnostics. The invention provides reliable method that is applicable to the practice of non-invasive prenatal screening for sex chromosomes aneuploidies such as monosomy X (X0, Turner syndrome), XXY (Klinefelter syndrome), XXX (triple X syndrome), and XYY (Jacob syndrome), from the blood sample taken from mother in early stage of pregnancy. Moreover, the invention provides a novel approach to calculation of fetal fraction of cell free DNA fragments. The invention relates particularly to single or twin pregnancies, however, the extension of the invention to triple or quadruple pregnancies is contemplated.
(FR) L'invention concerne d'une manière générale le domaine du dépistage prénatal non invasif et des diagnostics. L'invention concerne un procédé fiable qui peut être appliqué à la pratique d'un dépistage prénatal non invasif pour des aneuploïdies des chromosomes sexuels, telles que la monosomie X (X0, syndrome de Turner), XXY (syndrome de Klinefelter), XXX (syndrome X triple), et XYY (syndrome de Jacob), à partir d'un échantillon de sang prélevé chez la mère dans un stade précoce de la grossesse. De plus, l'invention concerne une nouvelle approche pour le calcul d'une fraction fœtale de fragments d'ADN acellulaire. L'invention concerne en particulier des grossesses uniques ou gémellaires. Cependant, l'extension de l'invention aux grossesses triples ou quadruples est envisagée.
Designated States: AE, AG, AL, AM, AO, AT, AU, AZ, BA, BB, BG, BH, BN, BR, BW, BY, BZ, CA, CH, CL, CN, CO, CR, CU, CZ, DE, DJ, DK, DM, DO, DZ, EC, EE, EG, ES, FI, GB, GD, GE, GH, GM, GT, HN, HR, HU, ID, IL, IN, IR, IS, JO, JP, KE, KG, KH, KN, KP, KR, KW, KZ, LA, LC, LK, LR, LS, LU, LY, MA, MD, ME, MG, MK, MN, MW, MX, MY, MZ, NA, NG, NI, NO, NZ, OM, PA, PE, PG, PH, PL, PT, QA, RO, RS, RU, RW, SA, SC, SD, SE, SG, SK, SL, SM, ST, SV, SY, TH, TJ, TM, TN, TR, TT, TZ, UA, UG, US, UZ, VC, VN, ZA, ZM, ZW
African Regional Intellectual Property Organization (ARIPO) (BW, GH, GM, KE, LR, LS, MW, MZ, NA, RW, SD, SL, ST, SZ, TZ, UG, ZM, ZW)
Eurasian Patent Office (AM, AZ, BY, KG, KZ, RU, TJ, TM)
European Patent Office (EPO) (AL, AT, BE, BG, CH, CY, CZ, DE, DK, EE, ES, FI, FR, GB, GR, HR, HU, IE, IS, IT, LT, LU, LV, MC, MK, MT, NL, NO, PL, PT, RO, RS, SE, SI, SK, SM, TR)
African Intellectual Property Organization (BF, BJ, CF, CG, CI, CM, GA, GN, GQ, GW, KM, ML, MR, NE, SN, TD, TG)
Publication Language: English (EN)
Filing Language: English (EN)