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MX2025008751A - Metodo para la deteccion prenatal no invasiva de aneuploidia - Google Patents

Metodo para la deteccion prenatal no invasiva de aneuploidia

Info

Publication number
MX2025008751A
MX2025008751A MX2025008751A MX2025008751A MX2025008751A MX 2025008751 A MX2025008751 A MX 2025008751A MX 2025008751 A MX2025008751 A MX 2025008751A MX 2025008751 A MX2025008751 A MX 2025008751A MX 2025008751 A MX2025008751 A MX 2025008751A
Authority
MX
Mexico
Prior art keywords
fetal
methods
present
nips
aneuploidy
Prior art date
Application number
MX2025008751A
Other languages
English (en)
Inventor
Charles Rowland
Renius Owen
Charles Strom
Ke Zhang
Original Assignee
Quest Diagnostics Invest Llc
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 Quest Diagnostics Invest Llc filed Critical Quest Diagnostics Invest Llc
Publication of MX2025008751A publication Critical patent/MX2025008751A/es

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    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/53—Immunoassay; Biospecific binding assay; Materials therefor
    • G01N33/5308—Immunoassay; Biospecific binding assay; Materials therefor for analytes not provided for elsewhere, e.g. nucleic acids, uric acid, worms, mites
    • 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
    • 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
    • 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
    • G16B30/20—Sequence assembly
    • 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
    • C—CHEMISTRY; METALLURGY
    • C40—COMBINATORIAL TECHNOLOGY
    • C40B—COMBINATORIAL CHEMISTRY; LIBRARIES, e.g. CHEMICAL LIBRARIES
    • C40B20/00—Methods specially adapted for identifying library members
    • C40B20/04—Identifying library members by means of a tag, label, or other readable or detectable entity associated with the library members, e.g. decoding processes
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/36—Gynecology or obstetrics
    • G01N2800/368—Pregnancy complicated by disease or abnormalities of pregnancy, e.g. preeclampsia, preterm labour
    • 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
    • G16B20/10—Ploidy or copy number detection

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Molecular Biology (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Theoretical Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Medical Informatics (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Immunology (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Pathology (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Hematology (AREA)
  • Urology & Nephrology (AREA)
  • Biomedical Technology (AREA)
  • Medicinal Chemistry (AREA)
  • General Physics & Mathematics (AREA)
  • Food Science & Technology (AREA)
  • Tropical Medicine & Parasitology (AREA)
  • Cell Biology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)

Abstract

La presente invención proporciona métodos para la detección prenatal no invasiva (DPNI) de aneuploidías fetales. Los métodos de la presente invención se fundamentan en el análisis de ADN fetal libre de células (ADNflc) encontrado en la circulación de una mujer embarazada, mediante tecnología de secuenciación de última generación (SUG). Particularmente, los métodos de la presente invención analizan la abundancia relativa de diferentes fragmentos genómicos fetales presentes en la muestra materna, en donde los fragmentos pueden ser alineados a localizaciones cromosómicas particulares del genoma fetal. La información sobre la abundancia relativa es indicativa de si un cromosoma particular está sobrerrepresentado o subrepresentado en el genoma fetal, en comparación con individuos normales, y por lo tanto, se puede usar para detectar aneuploidía fetal. Además, también se proporcionan métodos para incrementar los valores predictivos positivos (VPP) de DPNIs mediante la exclusión de los falsos positivos detectados.
MX2025008751A 2017-01-11 2019-07-10 Metodo para la deteccion prenatal no invasiva de aneuploidia MX2025008751A (es)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201762445196P 2017-01-11 2017-01-11
PCT/US2018/013055 WO2018132400A1 (en) 2017-01-11 2018-01-10 Method for non-invasive prenatal screening for aneuploidy

Publications (1)

Publication Number Publication Date
MX2025008751A true MX2025008751A (es) 2025-09-02

Family

ID=62840332

Family Applications (2)

Application Number Title Priority Date Filing Date
MX2019008320A MX2019008320A (es) 2017-01-11 2018-01-10 Metodo para la deteccion prenatal no invasiva de aneuploidia.
MX2025008751A MX2025008751A (es) 2017-01-11 2019-07-10 Metodo para la deteccion prenatal no invasiva de aneuploidia

Family Applications Before (1)

Application Number Title Priority Date Filing Date
MX2019008320A MX2019008320A (es) 2017-01-11 2018-01-10 Metodo para la deteccion prenatal no invasiva de aneuploidia.

Country Status (7)

Country Link
US (2) US20200255896A1 (es)
EP (2) EP4667587A2 (es)
CN (1) CN110770341A (es)
BR (1) BR112019014208A2 (es)
CA (1) CA3049442A1 (es)
MX (2) MX2019008320A (es)
WO (1) WO2018132400A1 (es)

Families Citing this family (9)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP3827094A1 (en) * 2018-07-24 2021-06-02 Affymetrix, Inc. Array based method and kit for determining copy number and genotype in pseudogenes
RU2712175C1 (ru) * 2019-11-14 2020-01-24 Общество с ограниченной ответственностью "НИПТ" (ООО "НИПТ") Способ неинвазивного пренатального скрининга анеуплоидий плода
AU2019480813B2 (en) * 2019-12-31 2024-07-18 Bgi Clinical Laboratories (Shenzhen) Co., Ltd. Methods for determining chromosome aneuploidy and constructing classification model, and device
CN112037846A (zh) * 2020-07-14 2020-12-04 广州市达瑞生物技术股份有限公司 一种cffDNA非整倍体检测方法、系统、储存介质以及检测设备
CN111951890B (zh) * 2020-08-13 2022-03-22 北京博昊云天科技有限公司 染色体和单基因病同步产前筛查的设备、试剂盒和分析系统
CN113046430B (zh) * 2021-03-15 2022-02-01 北京阅微基因技术股份有限公司 一种染色体非整倍体数目异常的扩增组合物及其应用
CN113643755B (zh) * 2021-08-11 2023-10-13 上海小海龟科技有限公司 一种nipt试剂盒阳性率校正方法、装置、计算机设备和介质
CN113744892A (zh) * 2021-09-02 2021-12-03 上海宝藤生物医药科技股份有限公司 胚胎整倍性预测方法、装置、电子设备及存储介质
CN117106870B (zh) * 2022-12-30 2024-09-13 深圳市真迈生物科技有限公司 胎儿浓度的确定方法及装置

Family Cites Families (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
HRP20140009T4 (hr) * 2007-07-23 2019-03-08 The Chinese University Of Hong Kong Dijagnosticiranje fetalne kromosomske aneuploidije uporabom genomskog sekvencijskog postupka
BR122021021825B1 (pt) * 2012-09-20 2022-05-24 The Chinese University Of Hong Kong Método para estimar um nível de metilação de dna em uma amostra biológica de um organismo, e, meio de armazenamento de memória
US10643738B2 (en) * 2013-01-10 2020-05-05 The Chinese University Of Hong Kong Noninvasive prenatal molecular karyotyping from maternal plasma
US10319463B2 (en) * 2015-01-23 2019-06-11 The Chinese University Of Hong Kong Combined size- and count-based analysis of maternal plasma for detection of fetal subchromosomal aberrations

Also Published As

Publication number Publication date
CA3049442A1 (en) 2018-07-19
EP4667587A2 (en) 2025-12-24
EP3568472B1 (en) 2025-09-03
US20200255896A1 (en) 2020-08-13
EP3568472A4 (en) 2020-08-12
US20250257404A1 (en) 2025-08-14
WO2018132400A1 (en) 2018-07-19
EP3568472A1 (en) 2019-11-20
CN110770341A (zh) 2020-02-07
BR112019014208A2 (pt) 2020-03-17
MX2019008320A (es) 2019-09-09

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