CA2770256C - Method for detecting chromosomal aneuploidy - Google Patents

Method for detecting chromosomal aneuploidy Download PDF

Info

Publication number
CA2770256C
CA2770256C CA2770256A CA2770256A CA2770256C CA 2770256 C CA2770256 C CA 2770256C CA 2770256 A CA2770256 A CA 2770256A CA 2770256 A CA2770256 A CA 2770256A CA 2770256 C CA2770256 C CA 2770256C
Authority
CA
Canada
Prior art keywords
dna
marker
methylation
chromosome
fetal
Prior art date
Legal status (The legal status 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 status listed.)
Active
Application number
CA2770256A
Other languages
English (en)
French (fr)
Other versions
CA2770256A1 (en
Inventor
Yuk Ming Dennis Lo
Rossa Wai Kwun Chiu
Yu Kwan Tong
Shengnan Jin
Siu Chung Stephen Chim
Wai Yi Tsui
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Chinese University of Hong Kong CUHK
Original Assignee
Chinese University of Hong Kong CUHK
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 Chinese University of Hong Kong CUHK filed Critical Chinese University of Hong Kong CUHK
Publication of CA2770256A1 publication Critical patent/CA2770256A1/en
Application granted granted Critical
Publication of CA2770256C publication Critical patent/CA2770256C/en
Active legal-status Critical Current
Anticipated expiration legal-status Critical

Links

Classifications

    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813Hybridisation assays
    • C12Q1/6827Hybridisation assays for detection of mutation or polymorphism
    • YGENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y10TECHNICAL SUBJECTS COVERED BY FORMER USPC
    • Y10TTECHNICAL SUBJECTS COVERED BY FORMER US CLASSIFICATION
    • Y10T436/00Chemistry: analytical and immunological testing
    • Y10T436/14Heterocyclic carbon compound [i.e., O, S, N, Se, Te, as only ring hetero atom]
    • Y10T436/142222Hetero-O [e.g., ascorbic acid, etc.]
    • Y10T436/143333Saccharide [e.g., DNA, etc.]

Landscapes

  • Chemical & Material Sciences (AREA)
  • Organic Chemistry (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Physics & Mathematics (AREA)
  • Molecular Biology (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Analytical Chemistry (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
CA2770256A 2009-08-11 2010-07-12 Method for detecting chromosomal aneuploidy Active CA2770256C (en)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US23304209P 2009-08-11 2009-08-11
US61/233,042 2009-08-11
US30857810P 2010-02-26 2010-02-26
US61/308,578 2010-02-26
PCT/GB2010/001327 WO2011018600A1 (en) 2009-08-11 2010-07-12 Method for detecting chromosomal aneuploidy

Publications (2)

Publication Number Publication Date
CA2770256A1 CA2770256A1 (en) 2011-02-17
CA2770256C true CA2770256C (en) 2018-09-25

Family

ID=42797276

Family Applications (1)

Application Number Title Priority Date Filing Date
CA2770256A Active CA2770256C (en) 2009-08-11 2010-07-12 Method for detecting chromosomal aneuploidy

Country Status (7)

Country Link
US (1) US8563242B2 (enExample)
EP (1) EP2464743B1 (enExample)
JP (1) JP5789605B2 (enExample)
CN (1) CN102625854B (enExample)
AU (1) AU2010283621B2 (enExample)
CA (1) CA2770256C (enExample)
WO (1) WO2011018600A1 (enExample)

Families Citing this family (103)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
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
US11111543B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US8532930B2 (en) 2005-11-26 2013-09-10 Natera, Inc. Method for determining the number of copies of a chromosome in the genome of a target individual using genetic data from genetically related individuals
US11111544B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
WO2009105531A1 (en) * 2008-02-19 2009-08-27 Gene Security Network, Inc. Methods for cell genotyping
US20110092763A1 (en) * 2008-05-27 2011-04-21 Gene Security Network, Inc. Methods for Embryo Characterization and Comparison
ES2620431T3 (es) * 2008-08-04 2017-06-28 Natera, Inc. Métodos para la determinación de alelos y de ploidía
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
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
US20120252015A1 (en) * 2011-02-18 2012-10-04 Bio-Rad Laboratories Methods and compositions for detecting genetic material
WO2011041485A1 (en) 2009-09-30 2011-04-07 Gene Security Network, Inc. Methods for non-invasive prenatal ploidy calling
WO2011066476A1 (en) * 2009-11-25 2011-06-03 Quantalife, Inc. Methods and compositions for detecting genetic material
US11332785B2 (en) 2010-05-18 2022-05-17 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
US11939634B2 (en) 2010-05-18 2024-03-26 Natera, Inc. Methods for simultaneous amplification of target loci
US10316362B2 (en) 2010-05-18 2019-06-11 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
US12221653B2 (en) 2010-05-18 2025-02-11 Natera, Inc. Methods for simultaneous amplification of target loci
CA3207599A1 (en) 2010-05-18 2011-11-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US12152275B2 (en) 2010-05-18 2024-11-26 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11326208B2 (en) 2010-05-18 2022-05-10 Natera, Inc. Methods for nested PCR amplification of cell-free DNA
US11322224B2 (en) 2010-05-18 2022-05-03 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11332793B2 (en) 2010-05-18 2022-05-17 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
US20190010543A1 (en) 2010-05-18 2019-01-10 Natera, Inc. Methods for simultaneous amplification of target loci
US8603742B2 (en) 2010-07-06 2013-12-10 University of Pittsburgh—of the Commonwealth System of Higher Education Methods for the diagnosis of fetal disease
US8700338B2 (en) 2011-01-25 2014-04-15 Ariosa Diagnosis, Inc. Risk calculation for evaluation of fetal aneuploidy
US20130261003A1 (en) 2010-08-06 2013-10-03 Ariosa Diagnostics, In. Ligation-based detection of genetic variants
US11203786B2 (en) 2010-08-06 2021-12-21 Ariosa Diagnostics, Inc. Detection of target nucleic acids using hybridization
US20140342940A1 (en) 2011-01-25 2014-11-20 Ariosa Diagnostics, Inc. Detection of Target Nucleic Acids using Hybridization
US10533223B2 (en) 2010-08-06 2020-01-14 Ariosa Diagnostics, Inc. Detection of target nucleic acids using hybridization
US20130040375A1 (en) 2011-08-08 2013-02-14 Tandem Diagnotics, Inc. Assay systems for genetic analysis
BR112013016193B1 (pt) 2010-12-22 2019-10-22 Natera Inc método ex vivo para determinar se um suposto pai é o pai biológico de um feto que está em gestação em uma gestante e relatório
US8756020B2 (en) 2011-01-25 2014-06-17 Ariosa Diagnostics, Inc. Enhanced risk probabilities using biomolecule estimations
EP2673380B1 (en) 2011-02-09 2018-12-12 Bio-Rad Laboratories, Inc. Analysis of nucleic acids
BR112013020220B1 (pt) 2011-02-09 2020-03-17 Natera, Inc. Método para determinar o estado de ploidia de um cromossomo em um feto em gestação
US12097495B2 (en) * 2011-02-18 2024-09-24 Bio-Rad Laboratories, Inc. Methods and compositions for detecting genetic material
AU2012236200B2 (en) * 2011-03-30 2015-05-14 Verinata Health, Inc. Method for verifying bioassay samples
US8712697B2 (en) 2011-09-07 2014-04-29 Ariosa Diagnostics, Inc. Determination of copy number variations using binomial probability calculations
WO2013130857A1 (en) * 2012-02-29 2013-09-06 Bio Dx, Inc. Defining diagnostic and therapeutic targets of conserved fetal dna in maternal circulating blood
US9605313B2 (en) 2012-03-02 2017-03-28 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3573066B1 (en) 2012-03-13 2023-09-27 The Chinese University Of Hong Kong Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis
PL2831279T3 (pl) 2012-03-26 2023-12-04 The Johns Hopkins University Szybkie wykrywanie aneuploidii
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
JP2015522260A (ja) * 2012-06-15 2015-08-06 ハリー スティリ, 疾患または状態を検出する方法
EP2872648B1 (en) 2012-07-13 2019-09-04 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
CN104583421A (zh) 2012-07-19 2015-04-29 阿瑞奥萨诊断公司 遗传变体的基于多重的顺序连接的检测
US20140100126A1 (en) 2012-08-17 2014-04-10 Natera, Inc. Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data
FI4056712T3 (fi) * 2012-09-20 2024-08-29 Univ Hong Kong Chinese Kasvaimen metyloomin nonivasiivinen määrittäminen plasmasta
US10706957B2 (en) 2012-09-20 2020-07-07 The Chinese University Of Hong Kong Non-invasive determination of methylome of tumor from plasma
US9732390B2 (en) 2012-09-20 2017-08-15 The Chinese University Of Hong Kong Non-invasive determination of methylome of fetus or tumor from plasma
CN104838013A (zh) * 2012-09-26 2015-08-12 新加坡科技研究局 用于唐氏综合症产前诊断的生物标志物
US20130189684A1 (en) * 2013-03-12 2013-07-25 Sequenom, Inc. Quantification of cell-specific nucleic acid markers
EP3597774A1 (en) 2013-03-13 2020-01-22 Sequenom, Inc. Primers for dna methylation analysis
EP3008215B1 (en) * 2013-06-13 2020-01-01 Ariosa Diagnostics, Inc. Statistical analysis for non-invasive sex chromosome aneuploidy determination
WO2015002845A1 (en) * 2013-07-01 2015-01-08 Anderson Cindy Biomarker for preeclampsia
ES2685893T3 (es) * 2013-07-30 2018-10-15 Bgi Genomics Co., Limited Método para determinar la composición de ácidos nucleicos de una mezcla de ácidos nucleicos
US10262755B2 (en) 2014-04-21 2019-04-16 Natera, Inc. Detecting cancer mutations and aneuploidy in chromosomal segments
WO2015048535A1 (en) 2013-09-27 2015-04-02 Natera, Inc. Prenatal diagnostic resting standards
US10577655B2 (en) 2013-09-27 2020-03-03 Natera, Inc. Cell free DNA diagnostic testing standards
BR112016007401B1 (pt) * 2013-10-04 2023-04-11 Sequenom, Inc. Método para determinar a presença ou ausência de uma aneuploidia cromossômica em uma amostra
CA2938451C (en) * 2014-01-30 2023-10-17 The Regents Of The University Of California Methylation haplotyping for non-invasive diagnosis (monod)
EP3117011B1 (en) 2014-03-13 2020-05-06 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3134541B1 (en) 2014-04-21 2020-08-19 Natera, Inc. Detecting copy number variations (cnv) of chromosomal segments in cancer
US12492429B2 (en) 2014-04-21 2025-12-09 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
EP2942401A1 (en) 2014-05-09 2015-11-11 Lifecodexx AG Detection of DNA that originates from a specific cell-type
EP2942400A1 (en) 2014-05-09 2015-11-11 Lifecodexx AG Multiplex detection of DNA that originates from a specific cell-type
EP3521454A1 (en) 2014-05-09 2019-08-07 LifeCodexx AG Detection of dna that originates from a specific cell-type and related methods
WO2015175562A1 (en) * 2014-05-15 2015-11-19 Kellbenx Incorporated Preparation of fetal nucleated red blood cells (nrbcs) for diagnostic testing
US20180173846A1 (en) 2014-06-05 2018-06-21 Natera, Inc. Systems and Methods for Detection of Aneuploidy
JPWO2016052405A1 (ja) * 2014-09-29 2017-05-25 富士フイルム株式会社 胎児の染色体異数性の非侵襲的判別方法および判別システム
CN104789686B (zh) * 2015-05-06 2018-09-07 浙江安诺优达生物科技有限公司 检测染色体非整倍性的试剂盒和装置
WO2016176846A1 (zh) * 2015-05-06 2016-11-10 安诺优达基因科技(北京)有限公司 检测染色体非整倍性的试剂盒、装置和方法
US11479812B2 (en) 2015-05-11 2022-10-25 Natera, Inc. Methods and compositions for determining ploidy
EP3739061B1 (en) * 2015-07-20 2022-03-23 The Chinese University Of Hong Kong Methylation pattern analysis of haplotypes in tissues in dna mixture
CN105132572B (zh) * 2015-09-25 2018-03-02 邯郸市康业生物科技有限公司 一种无创产前筛查21‑三体综合征试剂盒
KR101848438B1 (ko) * 2015-10-29 2018-04-13 바이오코아 주식회사 디지털 pcr을 이용한 산전진단 방법
EP4180532A1 (en) * 2015-11-09 2023-05-17 Roche Molecular Systems, Inc. Methods for determining the origin of dna molecules
DK3168309T3 (da) * 2015-11-10 2020-06-22 Eurofins Lifecodexx Gmbh Detektion af føtale kromosomale aneuploidier under anvendelse af dna-regioner med forskellig metylering mellem fosteret og det gravide hunkøn
US10982286B2 (en) 2016-01-22 2021-04-20 Mayo Foundation For Medical Education And Research Algorithmic approach for determining the plasma genome abnormality PGA and the urine genome abnormality UGA scores based on cell free cfDNA copy number variations in plasma and urine
RU2760913C2 (ru) 2016-04-15 2021-12-01 Натера, Инк. Способы выявления рака легкого
CN106086243A (zh) * 2016-08-01 2016-11-09 王燕芸 一种无创式检测怀孕中胎儿是否健康的系统及其应用
WO2018064486A1 (en) 2016-09-29 2018-04-05 Counsyl, Inc. Noninvasive prenatal screening using dynamic iterative depth optimization
WO2018067517A1 (en) 2016-10-04 2018-04-12 Natera, Inc. Methods for characterizing copy number variation using proximity-litigation sequencing
JPWO2018066317A1 (ja) * 2016-10-05 2019-08-15 富士フイルム株式会社 必要なローカス数を決定する方法および必要なSNPs座位数を決定する方法
GB201618485D0 (en) 2016-11-02 2016-12-14 Ucl Business Plc Method of detecting tumour recurrence
US10011870B2 (en) 2016-12-07 2018-07-03 Natera, Inc. Compositions and methods for identifying nucleic acid molecules
CN106916893A (zh) * 2016-12-26 2017-07-04 中国科学院上海微系统与信息技术研究所 一种基于数字pcr芯片的基因甲基化程度定量方法
CN110191951A (zh) * 2017-01-24 2019-08-30 深圳华大生命科学研究院 基于外泌体dna进行无创产前诊断的方法及其应用
CA3049139A1 (en) 2017-02-21 2018-08-30 Natera, Inc. Compositions, methods, and kits for isolating nucleic acids
US12084720B2 (en) 2017-12-14 2024-09-10 Natera, Inc. Assessing graft suitability for transplantation
WO2019161244A1 (en) 2018-02-15 2019-08-22 Natera, Inc. Methods for isolating nucleic acids with size selection
US12024738B2 (en) 2018-04-14 2024-07-02 Natera, Inc. Methods for cancer detection and monitoring
US12234509B2 (en) 2018-07-03 2025-02-25 Natera, Inc. Methods for detection of donor-derived cell-free DNA
CN109022541A (zh) * 2018-07-16 2018-12-18 苏州大学附属第二医院 一种浓集胎儿游离dna的试剂盒、方法及其应用
CN109136363A (zh) * 2018-08-31 2019-01-04 领航基因科技(杭州)有限公司 一种检测胎儿染色体非整数倍的试剂盒和检测胎儿甲基化dna拷贝数的方法
WO2020247263A1 (en) 2019-06-06 2020-12-10 Natera, Inc. Methods for detecting immune cell dna and monitoring immune system
WO2020264051A1 (en) * 2019-06-24 2020-12-30 ChromaCode, Inc. Methods for differentially quantifying nucleic acids
CN110964073B (zh) * 2019-11-28 2023-06-02 上海市第一妇婴保健院 用于捕获胎儿特有dna甲基化修饰结合蛋白的探针及方法
CN113046435B (zh) * 2021-05-14 2023-10-03 吉林大学第一医院 一种用于制备产前胎儿21-三体综合征检测的pcr反应体系的特异性引物

Family Cites Families (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN101985619B (zh) 2003-10-08 2014-08-20 波士顿大学信托人 染色体异常的产前诊断方法
US7645576B2 (en) * 2005-03-18 2010-01-12 The Chinese University Of Hong Kong Method for the detection of chromosomal aneuploidies
US7537897B2 (en) 2006-01-23 2009-05-26 Population Genetics Technologies, Ltd. Molecular counting
MX2008011406A (es) 2006-03-06 2008-11-18 Univ Columbia Amplificacion especifica de secuencias de adn fetal de una fuente mixta, materno fetal.
US7901884B2 (en) 2006-05-03 2011-03-08 The Chinese University Of Hong Kong Markers for prenatal diagnosis and monitoring
EP3892736A1 (en) * 2007-07-23 2021-10-13 The Chinese University of Hong Kong Determining a nucleic acid sequence imbalance

Also Published As

Publication number Publication date
CA2770256A1 (en) 2011-02-17
EP2464743A1 (en) 2012-06-20
HK1166354A1 (en) 2012-10-26
EP2464743B1 (en) 2015-04-29
US8563242B2 (en) 2013-10-22
JP5789605B2 (ja) 2015-10-07
JP2013501514A (ja) 2013-01-17
AU2010283621A1 (en) 2012-03-01
CN102625854A (zh) 2012-08-01
CN102625854B (zh) 2017-10-20
US20110039724A1 (en) 2011-02-17
AU2010283621B2 (en) 2014-06-26
WO2011018600A1 (en) 2011-02-17

Similar Documents

Publication Publication Date Title
CA2770256C (en) Method for detecting chromosomal aneuploidy
CN101535502B (zh) 用于产前诊断和监测的新的胎儿标志物
US8603742B2 (en) Methods for the diagnosis of fetal disease
JP2009535049A (ja) 新規胎児メチル化マーカー
WO2005118852A2 (en) A marker for prenatal diagnosis and monitoring
HK1166354B (en) Method for detecting chromosomal aneuploidy

Legal Events

Date Code Title Description
EEER Examination request

Effective date: 20160428