CA3058551A1 - Method of detecting a fetal chromosomal abnormality - Google Patents

Method of detecting a fetal chromosomal abnormality Download PDF

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Publication number
CA3058551A1
CA3058551A1 CA3058551A CA3058551A CA3058551A1 CA 3058551 A1 CA3058551 A1 CA 3058551A1 CA 3058551 A CA3058551 A CA 3058551A CA 3058551 A CA3058551 A CA 3058551A CA 3058551 A1 CA3058551 A1 CA 3058551A1
Authority
CA
Canada
Prior art keywords
chromosome
fetal
size
fragments
target
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.)
Pending
Application number
CA3058551A
Other languages
English (en)
French (fr)
Inventor
Francesco Crea
Matthew FORMAN
Michael Risley
Rachel SHELMERDINE
Original Assignee
Premaitha Ltd
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
Priority claimed from GBGB1705281.2A external-priority patent/GB201705281D0/en
Priority claimed from GBGB1718623.0A external-priority patent/GB201718623D0/en
Application filed by Premaitha Ltd filed Critical Premaitha Ltd
Publication of CA3058551A1 publication Critical patent/CA3058551A1/en
Pending legal-status Critical Current

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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
    • C12Q1/6883—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
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/10—Processes for the isolation, preparation or purification of DNA or RNA
    • C12N15/1034—Isolating an individual clone by screening libraries
    • 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
    • C12Q1/6879—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for sex determination
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10—Sequence alignment; Homology search
    • 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)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Genetics & Genomics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Physics & Mathematics (AREA)
  • Analytical Chemistry (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • General Health & Medical Sciences (AREA)
  • Molecular Biology (AREA)
  • General Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • Immunology (AREA)
  • Theoretical Computer Science (AREA)
  • Medical Informatics (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Biomedical Technology (AREA)
  • Pathology (AREA)
  • Crystallography & Structural Chemistry (AREA)
  • Plant Pathology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
CA3058551A 2017-03-31 2018-03-29 Method of detecting a fetal chromosomal abnormality Pending CA3058551A1 (en)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
GBGB1705281.2A GB201705281D0 (en) 2017-03-31 2017-03-31 Method of detecting a fetal chromosomal abnormality
GB1705281.2 2017-03-31
GB1718623.0 2017-11-10
GBGB1718623.0A GB201718623D0 (en) 2017-11-10 2017-11-10 Method of detecting a fetal chromosomal abnormality
PCT/GB2018/050855 WO2018178700A1 (en) 2017-03-31 2018-03-29 Method of detecting a fetal chromosomal abnormality

Publications (1)

Publication Number Publication Date
CA3058551A1 true CA3058551A1 (en) 2018-10-04

Family

ID=61906775

Family Applications (1)

Application Number Title Priority Date Filing Date
CA3058551A Pending CA3058551A1 (en) 2017-03-31 2018-03-29 Method of detecting a fetal chromosomal abnormality

Country Status (7)

Country Link
US (1) US20200109452A1 (https=)
EP (1) EP3601591A1 (https=)
JP (1) JP2020512000A (https=)
CN (1) CN110914456A (https=)
AU (1) AU2018244815A1 (https=)
CA (1) CA3058551A1 (https=)
WO (1) WO2018178700A1 (https=)

Families Citing this family (7)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
JP2022519159A (ja) * 2018-12-17 2022-03-22 ナテラ， インコーポレイテッド 循環細胞の分析方法
KR102532991B1 (ko) * 2019-12-23 2023-05-18 주식회사 랩 지노믹스 태아의 염색체 이수성 검출방법
CN112037174B (zh) * 2020-08-05 2024-03-01 湖南自兴智慧医疗科技有限公司 染色体异常检测方法、装置、设备及计算机可读存储介质
CA3200221A1 (en) * 2020-11-27 2022-06-02 Yong Bai Method and system of detecting fetal chromosomal abnormalities
WO2024049915A1 (en) * 2022-08-30 2024-03-07 The General Hospital Corporation High-resolution and non-invasive fetal sequencing
CN115798578B (zh) * 2022-12-06 2024-06-18 中国人民解放军军事科学院军事医学研究院 一种分析与检测病毒新流行变异株的装置及方法
PL445283A1 (pl) * 2023-06-20 2024-12-23 Instytut Centrum Zdrowia Matki Polki Sposób nieinwazyjnej analizy płodowego DNA oraz frakcji płodu z wykorzystaniem reakcji multipleks digital PCR

Family Cites Families (12)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20100216153A1 (en) * 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
CA2780016C (en) * 2009-11-06 2017-09-19 The Chinese University Of Hong Kong Size-based genomic analysis
PL2561103T3 (pl) * 2011-06-29 2015-02-27 Bgi Diagnosis Co Ltd Nieinwazyjna detekcja anomalii genetycznych płodu
EP2768978B1 (en) * 2011-10-18 2017-11-22 Multiplicom NV Fetal chromosomal aneuploidy diagnosis
GB201215449D0 (en) * 2012-08-30 2012-10-17 Zoragen Biotechnologies Llp Method of detecting chromosonal abnormalities
CN103923987A (zh) * 2014-04-01 2014-07-16 中山大学达安基因股份有限公司 一种基于高通量测序检测13、18、21三体综合征的方法
CN105296606B (zh) * 2014-07-25 2019-08-09 深圳华大基因股份有限公司 确定生物样本中游离核酸比例的方法、装置及其用途
CN104232778B (zh) * 2014-09-19 2016-08-17 天津华大基因科技有限公司 同时确定胎儿单体型及染色体非整倍性的方法及装置
EP3018213A1 (en) * 2014-11-04 2016-05-11 Genesupport SA Method for determining the presence of a biological condition by determining total and relative amounts of two different nucleic acids
EP3502273B1 (en) * 2014-12-12 2020-07-08 Verinata Health, Inc. Cell-free dna fragment
CN105695567B (zh) * 2015-11-30 2019-04-05 北京昱晟达医疗科技有限公司 一种用于检测胎儿染色体非整倍体的试剂盒、引物和探针序列及检测方法
CN105926043B (zh) * 2016-04-19 2018-08-28 苏州贝康医疗器械有限公司 一种提高孕妇血浆游离dna测序文库中胎儿游离dna占比的方法

Also Published As

Publication number Publication date
US20200109452A1 (en) 2020-04-09
WO2018178700A1 (en) 2018-10-04
AU2018244815A1 (en) 2019-10-31
JP2020512000A (ja) 2020-04-23
EP3601591A1 (en) 2020-02-05
CN110914456A (zh) 2020-03-24

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