EA202090348A1 - METHOD FOR NON-INVASIVE PRENATAL IDENTIFICATION OF ABNORMAL CHROMOSOME ANOMALIES IN THE FETUS AND DETERMINATION OF THE FETAL FLOOR IN THE EVENT OF ONE-FEMALE AND TWO-FILLED PREGNANCY - Google Patents
METHOD FOR NON-INVASIVE PRENATAL IDENTIFICATION OF ABNORMAL CHROMOSOME ANOMALIES IN THE FETUS AND DETERMINATION OF THE FETAL FLOOR IN THE EVENT OF ONE-FEMALE AND TWO-FILLED PREGNANCYInfo
- Publication number
- EA202090348A1 EA202090348A1 EA202090348A EA202090348A EA202090348A1 EA 202090348 A1 EA202090348 A1 EA 202090348A1 EA 202090348 A EA202090348 A EA 202090348A EA 202090348 A EA202090348 A EA 202090348A EA 202090348 A1 EA202090348 A1 EA 202090348A1
- Authority
- EA
- Eurasian Patent Office
- Prior art keywords
- invasive prenatal
- pregnancy
- present
- syndrome
- fetal
- Prior art date
Links
- 230000035935 pregnancy Effects 0.000 title abstract 3
- 230000001605 fetal effect Effects 0.000 title abstract 2
- 238000000034 method Methods 0.000 title abstract 2
- 230000002159 abnormal effect Effects 0.000 title 1
- 210000000349 chromosome Anatomy 0.000 title 1
- 210000003754 fetus Anatomy 0.000 title 1
- 238000009609 prenatal screening Methods 0.000 abstract 2
- 208000017924 Klinefelter Syndrome Diseases 0.000 abstract 1
- 208000026928 Turner syndrome Diseases 0.000 abstract 1
- 208000034790 Twin pregnancy Diseases 0.000 abstract 1
- 208000036878 aneuploidy Diseases 0.000 abstract 1
- 231100001075 aneuploidy Toxicity 0.000 abstract 1
- 239000008280 blood Substances 0.000 abstract 1
- 210000004369 blood Anatomy 0.000 abstract 1
- 201000004006 camptodactyly-arthropathy-coxa vara-pericarditis syndrome Diseases 0.000 abstract 1
- 239000012634 fragment Substances 0.000 abstract 1
- 208000030454 monosomy Diseases 0.000 abstract 1
- 238000003793 prenatal diagnosis Methods 0.000 abstract 1
- 210000003765 sex chromosome Anatomy 0.000 abstract 1
- 208000011580 syndromic disease Diseases 0.000 abstract 1
- 208000026485 trisomy X Diseases 0.000 abstract 1
Classifications
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- 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
- C12Q1/6869—Methods for sequencing
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- 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
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- 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
- G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
- G16B40/20—Supervised data analysis
-
- 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
Landscapes
- Life Sciences & Earth Sciences (AREA)
- Engineering & Computer Science (AREA)
- Health & Medical Sciences (AREA)
- Physics & Mathematics (AREA)
- Chemical & Material Sciences (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Biotechnology (AREA)
- Organic Chemistry (AREA)
- Medical Informatics (AREA)
- Biophysics (AREA)
- General Health & Medical Sciences (AREA)
- Data Mining & Analysis (AREA)
- Wood Science & Technology (AREA)
- Zoology (AREA)
- Theoretical Computer Science (AREA)
- Analytical Chemistry (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Molecular Biology (AREA)
- Genetics & Genomics (AREA)
- Evolutionary Biology (AREA)
- Bioinformatics & Computational Biology (AREA)
- Computer Vision & Pattern Recognition (AREA)
- Bioethics (AREA)
- Databases & Information Systems (AREA)
- Epidemiology (AREA)
- Evolutionary Computation (AREA)
- Immunology (AREA)
- Public Health (AREA)
- Software Systems (AREA)
- Artificial Intelligence (AREA)
- Microbiology (AREA)
- General Engineering & Computer Science (AREA)
- Biochemistry (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Abstract
В целом настоящее изобретение относится к области неинвазивного пренатального скрининга и диагностики. В настоящем изобретении предусмотрен надежный способ, который применим в практической реализации неинвазивного пренатального скрининга анеуплоидий половых хромосом, таких как моносомия по X (X0, синдром Тернера), XXY (синдром Клайнфельтера), XXX (синдром трисомии X) и XYY (синдром Джейкобс) с использованием образца крови, взятого у матери на ранней стадии беременности. Более того, в настоящем изобретении предусмотрен новый подход к расчету фетальной фракции фрагментов внеклеточной ДНК. В частности, настоящее изобретение относится к одноплодным или двухплодным беременностям, однако предполагается расширение изобретения в отношении трехплодных или четырехплодных беременностей.In General, the present invention relates to the field of non-invasive prenatal screening and diagnosis. The present invention provides a reliable method that is applicable in the practical implementation of non-invasive prenatal screening for sex chromosome aneuploidies such as X monosomy (X0, Turner syndrome), XXY (Klinefelter syndrome), XXX (trisomy X syndrome) and XYY (Jacobs syndrome) with using a blood sample taken from the mother at an early stage of pregnancy. Moreover, the present invention provides a new approach to the calculation of the fetal fraction of extracellular DNA fragments. In particular, the present invention relates to single or twin pregnancies, however, it is intended to expand the invention in relation to triple or quadruple pregnancies.
Applications Claiming Priority (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| PCT/EP2017/069795 WO2019025004A1 (en) | 2017-08-04 | 2017-08-04 | A method for non-invasive prenatal detection of fetal sex chromosomal abnormalities and fetal sex determination for singleton and twin pregnancies |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| EA202090348A1 true EA202090348A1 (en) | 2020-05-06 |
Family
ID=59649682
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| EA202090348A EA202090348A1 (en) | 2017-08-04 | 2017-08-04 | METHOD FOR NON-INVASIVE PRENATAL IDENTIFICATION OF ABNORMAL CHROMOSOME ANOMALIES IN THE FETUS AND DETERMINATION OF THE FETAL FLOOR IN THE EVENT OF ONE-FEMALE AND TWO-FILLED PREGNANCY |
Country Status (3)
| Country | Link |
|---|---|
| EP (1) | EP3662479A1 (en) |
| EA (1) | EA202090348A1 (en) |
| WO (1) | WO2019025004A1 (en) |
Families Citing this family (9)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| JP7506060B2 (en) | 2019-06-03 | 2024-06-25 | イルミナ インコーポレイテッド | Detection limit-based quality control metrics |
| CN114846507B (en) * | 2019-09-25 | 2025-10-28 | 阿斯泰刻有限公司 | Methods and systems for non-invasive genetic testing using artificial intelligence (AI) models |
| CN112037846A (en) * | 2020-07-14 | 2020-12-04 | 广州市达瑞生物技术股份有限公司 | cffDNA aneuploidy detection method, system, storage medium and detection equipment |
| EP4192981A4 (en) * | 2020-08-09 | 2024-08-14 | Myriad Women's Health, Inc. | Bayesian sex caller |
| CN112382384A (en) * | 2020-11-10 | 2021-02-19 | 中国科学院自动化研究所 | Training method and diagnosis system for Turner syndrome diagnosis model and related equipment |
| CN113744892A (en) * | 2021-09-02 | 2021-12-03 | 上海宝藤生物医药科技股份有限公司 | Embryo euploidy prediction method, embryo euploidy prediction device, electronic equipment and storage medium |
| CN113793641B (en) * | 2021-09-29 | 2023-11-28 | 苏州赛美科基因科技有限公司 | Method for rapidly judging sample gender from FASTQ file |
| CN115240842A (en) * | 2022-07-04 | 2022-10-25 | 苏州赛美科基因科技有限公司 | Method, device and system for identifying gender and determining parameters of gender |
| CN115473901B (en) * | 2022-11-15 | 2023-03-10 | 四川汉唐云分布式存储技术有限公司 | Distributed computing power cluster intelligent scheduling method and device and computer equipment |
Family Cites Families (5)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| HRP20140009T4 (en) | 2007-07-23 | 2019-03-08 | The Chinese University Of Hong Kong | Diagnosing fetal chromosomal aneuploidy using genomic sequencing |
| SI2562268T1 (en) | 2008-09-20 | 2017-05-31 | The Board of Trustees of the Leland Stanford Junior University Office of the General Counsel Building 170 | Noninvasive diagnosis of fetal aneuploidy by sequencing |
| EP2824191A3 (en) | 2009-10-26 | 2015-02-18 | Lifecodexx AG | Means and methods for non-invasive diagnosis of chromosomal aneuploidy |
| EP2848703A1 (en) | 2010-01-19 | 2015-03-18 | Verinata Health, Inc | Simultaneous determination of aneuploidy and fetal fraction |
| US10497461B2 (en) * | 2012-06-22 | 2019-12-03 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
-
2017
- 2017-08-04 EA EA202090348A patent/EA202090348A1/en unknown
- 2017-08-04 EP EP17754116.6A patent/EP3662479A1/en not_active Withdrawn
- 2017-08-04 WO PCT/EP2017/069795 patent/WO2019025004A1/en not_active Ceased
Also Published As
| Publication number | Publication date |
|---|---|
| EP3662479A1 (en) | 2020-06-10 |
| WO2019025004A1 (en) | 2019-02-07 |
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