CN110914456A - 检测胎儿染色体异常的方法 - Google Patents

检测胎儿染色体异常的方法 Download PDF

Info

Publication number
CN110914456A
CN110914456A CN201880035942.XA CN201880035942A CN110914456A CN 110914456 A CN110914456 A CN 110914456A CN 201880035942 A CN201880035942 A CN 201880035942A CN 110914456 A CN110914456 A CN 110914456A
Authority
CN
China
Prior art keywords
chromosome
size
fetal
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
CN201880035942.XA
Other languages
English (en)
Chinese (zh)
Inventor
F.克雷亚
M.福尔曼
M.里斯利
R.舍尔默迪恩
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.)
Yourgene Health Ltd
Original Assignee
Premaitha Health 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 Health Ltd filed Critical Premaitha Health Ltd
Publication of CN110914456A publication Critical patent/CN110914456A/zh
Pending legal-status Critical Current

Links

Images

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)
CN201880035942.XA 2017-03-31 2018-03-29 检测胎儿染色体异常的方法 Pending CN110914456A (zh)

Applications Claiming Priority (5)

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

Publications (1)

Publication Number Publication Date
CN110914456A true CN110914456A (zh) 2020-03-24

Family

ID=61906775

Family Applications (1)

Application Number Title Priority Date Filing Date
CN201880035942.XA Pending CN110914456A (zh) 2017-03-31 2018-03-29 检测胎儿染色体异常的方法

Country Status (7)

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

Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN112037174A (zh) * 2020-08-05 2020-12-04 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

Families Citing this family (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN113330121A (zh) * 2018-12-17 2021-08-31 纳特拉公司 用于循环细胞分析的方法
KR102532991B1 (ko) * 2019-12-23 2023-05-18 주식회사 랩 지노믹스 태아의 염색체 이수성 검출방법
EP4254418A4 (en) * 2020-11-27 2024-03-27 BGI Shenzhen Fetal chromosomal abnormality detection method and system
EP4581624A1 (en) * 2022-08-30 2025-07-09 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

Citations (10)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN103108960A (zh) * 2010-02-19 2013-05-15 西昆诺姆有限公司 用于检测胎儿核酸和诊断胎儿异常的方法
CN103403183A (zh) * 2011-06-29 2013-11-20 深圳华大基因健康科技有限公司 胎儿遗传异常的无创性检测
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
CN104232778A (zh) * 2014-09-19 2014-12-24 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
CN104968800A (zh) * 2012-08-30 2015-10-07 普莱梅沙有限公司 检测染色体异常的方法
CN105296606A (zh) * 2014-07-25 2016-02-03 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
WO2016071369A1 (en) * 2014-11-04 2016-05-12 Genesupport Sa Method for determining the presence of a biological condition by determining total and relative amounts of two different nucleic acids
WO2016094853A1 (en) * 2014-12-12 2016-06-16 Verinata Health, Inc. Using cell-free dna fragment size to determine copy number variations
CN105695567A (zh) * 2015-11-30 2016-06-22 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
CN105926043A (zh) * 2016-04-19 2016-09-07 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

Family Cites Families (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
ES3026544T3 (en) * 2009-11-06 2025-06-11 Univ Hong Kong Chinese Size-based genomic analysis for prenatal diagnosis
US9598730B2 (en) * 2011-10-18 2017-03-21 Multiplicom Nv Fetal chromosomal aneuploidy diagnosis

Patent Citations (10)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN103108960A (zh) * 2010-02-19 2013-05-15 西昆诺姆有限公司 用于检测胎儿核酸和诊断胎儿异常的方法
CN103403183A (zh) * 2011-06-29 2013-11-20 深圳华大基因健康科技有限公司 胎儿遗传异常的无创性检测
CN104968800A (zh) * 2012-08-30 2015-10-07 普莱梅沙有限公司 检测染色体异常的方法
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
CN105296606A (zh) * 2014-07-25 2016-02-03 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
CN104232778A (zh) * 2014-09-19 2014-12-24 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
WO2016071369A1 (en) * 2014-11-04 2016-05-12 Genesupport Sa Method for determining the presence of a biological condition by determining total and relative amounts of two different nucleic acids
WO2016094853A1 (en) * 2014-12-12 2016-06-16 Verinata Health, Inc. Using cell-free dna fragment size to determine copy number variations
CN105695567A (zh) * 2015-11-30 2016-06-22 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
CN105926043A (zh) * 2016-04-19 2016-09-07 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

Non-Patent Citations (2)

* Cited by examiner, † Cited by third party
Title
STEPHANIE C Y YU 等: "Size-based molecular diagnostics using plasma DNA for noninvasive prenatal testing" *
殷旭阳 等: "孕妇血浆游离核酸高通量测序检测胎儿遗传异常" *

Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CN112037174A (zh) * 2020-08-05 2020-12-04 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
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

Also Published As

Publication number Publication date
WO2018178700A1 (en) 2018-10-04
US20200109452A1 (en) 2020-04-09
EP3601591A1 (en) 2020-02-05
CA3058551A1 (en) 2018-10-04
AU2018244815A1 (en) 2019-10-31
JP2020512000A (ja) 2020-04-23

Similar Documents

Publication Publication Date Title
US20250320558A1 (en) Diagnosing fetal chromosomal aneuploidy using massively parallel genomic sequencing
US12018329B2 (en) Diagnosing fetal chromosomal aneuploidy using massively parallel genomic sequencing
CN110914456A (zh) 检测胎儿染色体异常的方法
KR20150070111A (ko) 염색체 이상의 검출 방법
CN111763742A (zh) 甲基化标志物及确定个体年龄的方法和应用
WO2019092438A1 (en) Method of detecting a fetal chromosomal abnormality
AU2013203077B2 (en) Diagnosing fetal chromosomal aneuploidy using genomic sequencing
CN113969310A (zh) 胎儿dna浓度的评估方法及应用
WO2020226528A1 (ru) Способ определения кариотипа плода беременной женщины
KR20200137875A (ko) 2단계 Z-score에 기반한 비침습적 산전 검사 방법 및 장치
HK1177766B (en) Diagnosing cancer using genomic sequencing
HK1177766A (en) Diagnosing cancer using genomic sequencing
HK1144024B (en) Diagnosing fetal chromosomal aneuploidy using genomic sequencing
AU2013200581A1 (en) Diagnosing cancer using genomic sequencing

Legal Events

Date Code Title Description
PB01 Publication
PB01 Publication
SE01 Entry into force of request for substantive examination
SE01 Entry into force of request for substantive examination
WD01 Invention patent application deemed withdrawn after publication

Application publication date: 20200324

WD01 Invention patent application deemed withdrawn after publication