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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

Links

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

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Zoology (AREA)
  • Engineering & Computer Science (AREA)
  • Immunology (AREA)
  • Genetics & Genomics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Biochemistry (AREA)
  • Physics & Mathematics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Pathology (AREA)
  • Cell Biology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

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)

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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
US11111543B2 (en) 2005-07-29 2021-09-07 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
US10083273B2 (en) 2005-07-29 2018-09-25 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US10081839B2 (en) 2005-07-29 2018-09-25 Natera, Inc System and method for cleaning noisy genetic data and determining chromosome copy number
US8652780B2 (en) 2007-03-26 2014-02-18 Sequenom, Inc. Restriction endonuclease enhanced polymorphic sequence detection
AU2009228312B2 (en) 2008-03-26 2015-05-21 Sequenom, Inc. Restriction endonuclease enhanced polymorphic sequence detection
ES2620431T3 (en) 2008-08-04 2017-06-28 Natera, Inc. Methods for the determination of alleles and ploidy
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
AU2009293232B2 (en) 2008-09-16 2015-05-14 Sequenom Center For Molecular Medicine Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses
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
US20120185176A1 (en) 2009-09-30 2012-07-19 Natera, Inc. Methods for Non-Invasive Prenatal Ploidy Calling
ES2577017T3 (en) 2009-12-22 2016-07-12 Sequenom, Inc. Procedures and kits to identify aneuploidy
US9677118B2 (en) 2014-04-21 2017-06-13 Natera, Inc. Methods for simultaneous amplification of target loci
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
US11326208B2 (en) 2010-05-18 2022-05-10 Natera, Inc. Methods for nested PCR amplification of cell-free DNA
US11939634B2 (en) 2010-05-18 2024-03-26 Natera, Inc. Methods for simultaneous amplification of target loci
US11322224B2 (en) 2010-05-18 2022-05-03 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11332785B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for non-invasive prenatal ploidy calling
EP2854057B1 (en) 2010-05-18 2018-03-07 Natera, Inc. Methods for non-invasive pre-natal ploidy calling
US20190010543A1 (en) 2010-05-18 2019-01-10 Natera, Inc. Methods for simultaneous amplification of target loci
US10017812B2 (en) 2010-05-18 2018-07-10 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11408031B2 (en) 2010-05-18 2022-08-09 Natera, Inc. Methods for non-invasive prenatal paternity testing
US10316362B2 (en) 2010-05-18 2019-06-11 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
US11339429B2 (en) 2010-05-18 2022-05-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling
AU2011348100B2 (en) 2010-12-22 2016-08-25 Natera, Inc. Methods for non-invasive prenatal paternity testing
WO2013131021A1 (en) 2012-03-02 2013-09-06 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
US10504613B2 (en) 2012-12-20 2019-12-10 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
HK1206792A1 (en) 2012-07-13 2016-01-15 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
US20140100126A1 (en) 2012-08-17 2014-04-10 Natera, Inc. Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data
EP3597774A1 (en) 2013-03-13 2020-01-22 Sequenom, Inc. Primers for dna methylation analysis
US10577655B2 (en) 2013-09-27 2020-03-03 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
US9499870B2 (en) 2013-09-27 2016-11-22 Natera, Inc. Cell free DNA diagnostic testing standards
JP6525434B2 (en) * 2013-10-04 2019-06-05 セクエノム， インコーポレイテッド Methods and processes for non-invasive assessment of gene mutations
WO2015138774A1 (en) 2014-03-13 2015-09-17 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
JP6659575B2 (en) 2014-04-21 2020-03-04 ナテラ， インコーポレイテッド Mutation detection and chromosomal segment ploidy
US20180173845A1 (en) 2014-06-05 2018-06-21 Natera, Inc. Systems and Methods for Detection of Aneuploidy
DK3294906T3 (en) 2015-05-11 2024-08-05 Natera Inc Methods for determining ploidy
EP3443119B8 (en) 2016-04-15 2022-04-06 Natera, Inc. Methods for lung cancer detection
WO2017205826A1 (en) * 2016-05-27 2017-11-30 Sequenom, Inc. Methods for detecting genetic variations
WO2018067517A1 (en) 2016-10-04 2018-04-12 Natera, Inc. Methods for characterizing copy number variation using proximity-litigation sequencing
US10011870B2 (en) 2016-12-07 2018-07-03 Natera, Inc. Compositions and methods for identifying nucleic acid molecules
AU2018225348A1 (en) 2017-02-21 2019-07-18 Natera, Inc. Compositions, methods, and kits for isolating nucleic acids
CA3085933A1 (en) 2017-12-14 2019-06-20 Tai Diagnostics, Inc. Assessing graft suitability for transplantation
US12398389B2 (en) 2018-02-15 2025-08-26 Natera, Inc. Methods for isolating nucleic acids with size selection
WO2019200228A1 (en) 2018-04-14 2019-10-17 Natera, Inc. Methods for cancer detection and monitoring by means of personalized detection of circulating tumor dna
US12234509B2 (en) 2018-07-03 2025-02-25 Natera, Inc. Methods for detection of donor-derived cell-free DNA
US12305235B2 (en) 2019-06-06 2025-05-20 Natera, Inc. Methods for detecting immune cell DNA and monitoring immune system

Non-Patent Citations (5)

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Title
BIANCHI D.W.: "Fetal cells in the mother: from genetic diagnosis to diseases associated with fetal cell microchimerism", EUROPEAN JOURNAL OF OBSTETRICS & GYNAECOLOGY AND REPRODUCTIVE BIOLOGY, vol. 92, no. 1, September 2000 (2000-09-01), pages 103 - 108 *
HADDOW J.E. ET AL.: "Screening of material serum for fetal Down's syndrome in the first trimester", THE NEW ENGLAND JOURNAL OF MEDICINE, vol. 338, no. 14, 2 April 1998 (1998-04-02), pages 955 - 961 *
PRANAV P, ET AL.: "Screening for fetal trisomies by maternal age and fetal nuchal translucency thickness at 10 to 14 weeks of gestation", BJOG:AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, vol. 102, no. 12, 1995, pages 957 - 962 *
TRACY Y.H. ET AL.: "Fetal nucleic acids in maternal plasma", FETAL AND MATERNAL MEDICINE REVIEW, vol. 17, no. 2, 2006, pages 125 - 137 *
ZIMMERMANN LECTURER R. ET AL.: "Serum parameters and nuchal translucency in first trimester screening for fetal chromosomal abnormalities", BJOG: AN INTERNATIONAL JOURNAL OF OBSTETRICS & GYNAECOLOGY, vol. 103, no. 10, 1996, pages 1009 - 1014 *

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