DK2029778T3 - Diagnose af føtale abnormiteter - Google Patents
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Classifications
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- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
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- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
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- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/16—Primer sets for multiplex assays
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- Proteomics, Peptides & Aminoacids (AREA)
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- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Investigating Or Analysing Biological Materials (AREA)
Claims (5)
1. Fremgangsmåde til bestemmelse af tilstedeværelsen eller fraværet af en føtal aneuploidi, hvor fremgangsmåden omfatter følgende: Ud fra en blandet moderlig blodprøve, der omfatter føtale og moderlige celler, (a) berigelse af føtale celler i den blandede moderlige blodprøve; (b) sortering af den berigede prøve for at tilvejebringe en ren føtal celle eller flere rene føtale celler; (c) kvantificering af et multiplum af genomiske DNA-regioner i hvert af to eller flere kromosomer fra den berigede og sorterede moderlige blodprøve, hvor i det mindste et af kromosomerne er et mistænkt aneuploidt kromosom, og i det mindste et af kromosomerne er et kontrol-kromosom, og hvor kvantificeringstrinnet omfatter amplifikation og anvender en comparative genomic hybridization (CGH) array uden gennemførelse af en single nucleotide polymorphism (SNP) analyse eller en short tandem repeat (STR) analyse; (d) indlæsning af dataene fra kvantificeringstrinnet i en forudbestemt datamodel med henblik på tilordning af genomisk DNA-mængde til moderlige og ikke-moderlige alleler; og (e) bestemmelse af tilstedeværelsen eller fraværet af den føtale aneuploidi ud fra dataene fra (d) under anvendelse af en af en computer eksekverbar logik.
2. Fremgangsmåde ifølge krav 1, hvorved aneuploidien ertrisomi.
3. Fremgangsmåde ifølge krav 2, hvorved trisomien er trisomi 13,18 eller 21.
4. Fremgangsmåde ifølge krav 1, hvorved aneuploidien omfatter en segmentær aneuploidi.
5. Fremgangsmåde ifølge et af kravene 1-4, hvorved kvantificeringen er gennemført ved kvantitativ PCR.
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| PCT/US2007/071247 WO2007147073A2 (en) | 2006-06-14 | 2007-06-14 | Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats |
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| DK2029778T3 true DK2029778T3 (da) | 2018-08-20 |
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| DK (1) | DK2029778T3 (da) |
| WO (1) | WO2007147073A2 (da) |
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| US20080050739A1 (en) | 2006-06-14 | 2008-02-28 | Roland Stoughton | Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats |
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| WO2009035447A1 (en) * | 2006-06-14 | 2009-03-19 | Living Microsystems, Inc. | Diagnosis of fetal abnormalities by comparative genomic hybridization analysis |
| PL2557520T3 (pl) | 2007-07-23 | 2021-10-11 | The Chinese University Of Hong Kong | Określanie zaburzenia równowagi sekwencji kwasu nukleinowego |
| US12180549B2 (en) | 2007-07-23 | 2024-12-31 | The Chinese University Of Hong Kong | Diagnosing fetal chromosomal aneuploidy using genomic sequencing |
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| US12152275B2 (en) | 2010-05-18 | 2024-11-26 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| US12221653B2 (en) | 2010-05-18 | 2025-02-11 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US11332793B2 (en) | 2010-05-18 | 2022-05-17 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| CN103608466B (zh) | 2010-12-22 | 2020-09-18 | 纳特拉公司 | 非侵入性产前亲子鉴定方法 |
| RU2671980C2 (ru) | 2011-02-09 | 2018-11-08 | Натера, Инк. | Способы неинвазивного пренатального установления плоидности |
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| EP2029778B1 (en) | 2018-05-02 |
| WO2007147073A2 (en) | 2007-12-21 |
| EP3425058A1 (en) | 2019-01-09 |
| WO2007147073A3 (en) | 2008-05-02 |
| EP2029778A2 (en) | 2009-03-04 |
| EP2029778A4 (en) | 2010-01-20 |
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