WO2008157264A3 - Combined methods for the detection of chromosomal aneuploidy - Google Patents

Combined methods for the detection of chromosomal aneuploidy Download PDF

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Publication number
WO2008157264A3
WO2008157264A3 PCT/US2008/066791 US2008066791W WO2008157264A3 WO 2008157264 A3 WO2008157264 A3 WO 2008157264A3 US 2008066791 W US2008066791 W US 2008066791W WO 2008157264 A3 WO2008157264 A3 WO 2008157264A3
Authority
WO
WIPO (PCT)
Prior art keywords
detection
chromosomal aneuploidy
combined methods
fetal
diagnosis
Prior art date
Application number
PCT/US2008/066791
Other languages
French (fr)
Other versions
WO2008157264A2 (en
Inventor
Chari Georgiou Stylli
Original Assignee
Sequenom Inc
Chari Georgiou Stylli
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Sequenom Inc, Chari Georgiou Stylli filed Critical Sequenom Inc
Publication of WO2008157264A2 publication Critical patent/WO2008157264A2/en
Publication of WO2008157264A3 publication Critical patent/WO2008157264A3/en

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Classifications

    • 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
    • C12Q1/6881—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for tissue or cell typing, e.g. human leukocyte antigen [HLA] probes
    • 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
    • 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
    • C12Q2600/154—Methylation markers
    • 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
    • C12Q2600/156—Polymorphic or mutational markers

Abstract

The invention relates to methods for the detection and/or diagnosis of fetal chromosomal abnormalities. In particular, the invention concerns the diagnosis of fetal chromosomal abnormalities by combining free, fetal nucleic acid-based tests with other one or more non-free, fetal nucleic acid-based chromosomal abnormality tests.
PCT/US2008/066791 2007-06-15 2008-06-12 Combined methods for the detection of chromosomal aneuploidy WO2008157264A2 (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US94433107P 2007-06-15 2007-06-15
US60/944,331 2007-06-15

Publications (2)

Publication Number Publication Date
WO2008157264A2 WO2008157264A2 (en) 2008-12-24
WO2008157264A3 true WO2008157264A3 (en) 2009-03-05

Family

ID=40156903

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/US2008/066791 WO2008157264A2 (en) 2007-06-15 2008-06-12 Combined methods for the detection of chromosomal aneuploidy

Country Status (1)

Country Link
WO (1) WO2008157264A2 (en)

Families Citing this family (42)

* Cited by examiner, † Cited by third party
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US11111544B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US10083273B2 (en) 2005-07-29 2018-09-25 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US9424392B2 (en) 2005-11-26 2016-08-23 Natera, Inc. System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals
US11111543B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
EP2140031A4 (en) 2007-03-26 2011-04-20 Sequenom Inc Restriction endonuclease enhanced polymorphic sequence detection
WO2009120808A2 (en) 2008-03-26 2009-10-01 Sequenom, Inc. Restriction endonuclease enhanced polymorphic sequence detection
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US8962247B2 (en) 2008-09-16 2015-02-24 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses
EP2329021B1 (en) 2008-09-16 2016-08-10 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses
US8476013B2 (en) 2008-09-16 2013-07-02 Sequenom, Inc. Processes and compositions for methylation-based acid enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
US10017812B2 (en) 2010-05-18 2018-07-10 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US20120185176A1 (en) 2009-09-30 2012-07-19 Natera, Inc. Methods for Non-Invasive Prenatal Ploidy Calling
EP2516680B1 (en) 2009-12-22 2016-04-06 Sequenom, Inc. Processes and kits for identifying aneuploidy
US11332785B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11939634B2 (en) 2010-05-18 2024-03-26 Natera, Inc. Methods for simultaneous amplification of target loci
US20190010543A1 (en) 2010-05-18 2019-01-10 Natera, Inc. Methods for simultaneous amplification of target loci
US11339429B2 (en) 2010-05-18 2022-05-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11322224B2 (en) 2010-05-18 2022-05-03 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US9677118B2 (en) 2014-04-21 2017-06-13 Natera, Inc. Methods for simultaneous amplification of target loci
US11326208B2 (en) 2010-05-18 2022-05-10 Natera, Inc. Methods for nested PCR amplification of cell-free DNA
CA2798758C (en) 2010-05-18 2019-05-07 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US10316362B2 (en) 2010-05-18 2019-06-11 Natera, Inc. Methods for simultaneous amplification of target loci
US11408031B2 (en) 2010-05-18 2022-08-09 Natera, Inc. Methods for non-invasive prenatal paternity testing
US11332793B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for simultaneous amplification of target loci
WO2012088456A2 (en) 2010-12-22 2012-06-28 Natera, Inc. Methods for non-invasive prenatal paternity testing
EP4155401A1 (en) 2012-03-02 2023-03-29 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9920361B2 (en) 2012-05-21 2018-03-20 Sequenom, Inc. Methods and compositions for analyzing nucleic acid
WO2014011928A1 (en) 2012-07-13 2014-01-16 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
WO2014168711A1 (en) 2013-03-13 2014-10-16 Sequenom, Inc. Primers for dna methylation analysis
US10577655B2 (en) 2013-09-27 2020-03-03 Natera, Inc. Cell free DNA diagnostic testing standards
US9499870B2 (en) 2013-09-27 2016-11-22 Natera, Inc. Cell free DNA diagnostic testing standards
US10262755B2 (en) 2014-04-21 2019-04-16 Natera, Inc. Detecting cancer mutations and aneuploidy in chromosomal segments
CA2925528C (en) * 2013-10-04 2023-09-05 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3736344A1 (en) 2014-03-13 2020-11-11 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
RU2717641C2 (en) 2014-04-21 2020-03-24 Натера, Инк. Detection of mutations and ploidy in chromosomal segments
US11479812B2 (en) 2015-05-11 2022-10-25 Natera, Inc. Methods and compositions for determining ploidy
EP4043581A1 (en) * 2016-05-27 2022-08-17 Sequenom, Inc. Method for generating a paralog assay system
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Title
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