CA2948939C - Noninvasive detection of fetal genetic abnormality - Google Patents

Noninvasive detection of fetal genetic abnormality Download PDF

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Publication number
CA2948939C
CA2948939C CA2948939A CA2948939A CA2948939C CA 2948939 C CA2948939 C CA 2948939C CA 2948939 A CA2948939 A CA 2948939A CA 2948939 A CA2948939 A CA 2948939A CA 2948939 C CA2948939 C CA 2948939C
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chromosome
coverage depth
content
fetal
calculated
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French (fr)
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CA2948939A1 (en
Inventor
Fuman Jiang
Huifei Chen
Xianghua Chai
Yuying Yuan
Xiuqing Zhang
Fang Chen
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BGI Genomics Co Ltd
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BGI Diagnosis Co Ltd
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Application filed by BGI Diagnosis Co Ltd filed Critical BGI Diagnosis Co Ltd
Priority to CA2948939A priority Critical patent/CA2948939C/en
Publication of CA2948939A1 publication Critical patent/CA2948939A1/en
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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
    • C12Q1/6844—Nucleic acid amplification reactions
    • 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
    • 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
    • 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
    • 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

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  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Analytical Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • Genetics & Genomics (AREA)
  • Organic Chemistry (AREA)
  • Molecular Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • General Engineering & Computer Science (AREA)
  • Immunology (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Pathology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
CA2948939A 2011-06-29 2011-06-29 Noninvasive detection of fetal genetic abnormality Active CA2948939C (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
CA2948939A CA2948939C (en) 2011-06-29 2011-06-29 Noninvasive detection of fetal genetic abnormality

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
CA2791118A CA2791118C (en) 2011-06-29 2011-06-29 Noninvasive detection of fetal genetic abnormality
PCT/CN2011/001070 WO2013000100A1 (en) 2011-06-29 2011-06-29 Noninvasive detection of fetal genetic abnormality
CA2948939A CA2948939C (en) 2011-06-29 2011-06-29 Noninvasive detection of fetal genetic abnormality

Related Parent Applications (1)

Application Number Title Priority Date Filing Date
CA2791118A Division CA2791118C (en) 2011-06-29 2011-06-29 Noninvasive detection of fetal genetic abnormality

Publications (2)

Publication Number Publication Date
CA2948939A1 CA2948939A1 (en) 2012-12-29
CA2948939C true CA2948939C (en) 2021-02-02

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CA2948939A Active CA2948939C (en) 2011-06-29 2011-06-29 Noninvasive detection of fetal genetic abnormality
CA2791118A Active CA2791118C (en) 2011-06-29 2011-06-29 Noninvasive detection of fetal genetic abnormality

Family Applications After (1)

Application Number Title Priority Date Filing Date
CA2791118A Active CA2791118C (en) 2011-06-29 2011-06-29 Noninvasive detection of fetal genetic abnormality

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US (1) US9547748B2 (enExample)
EP (1) EP2561103B1 (enExample)
JP (1) JP5659319B2 (enExample)
KR (1) KR101489568B1 (enExample)
CN (1) CN103403183B (enExample)
AU (1) AU2012261664B2 (enExample)
BR (1) BR112012033760B1 (enExample)
CA (2) CA2948939C (enExample)
DK (1) DK2561103T3 (enExample)
ES (1) ES2512448T3 (enExample)
MY (1) MY172864A (enExample)
PL (1) PL2561103T3 (enExample)
RU (1) RU2589681C2 (enExample)
SG (1) SG191757A1 (enExample)
SI (1) SI2561103T1 (enExample)
WO (1) WO2013000100A1 (enExample)
ZA (1) ZA201209583B (enExample)

Families Citing this family (65)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US11270781B2 (en) 2011-01-25 2022-03-08 Ariosa Diagnostics, Inc. Statistical analysis for non-invasive sex chromosome aneuploidy determination
US20140235474A1 (en) 2011-06-24 2014-08-21 Sequenom, Inc. Methods and processes for non invasive assessment of a genetic variation
US9547748B2 (en) 2011-06-29 2017-01-17 Bgi Health Service Co., Ltd. Method for determining fetal chromosomal abnormality
US9367663B2 (en) 2011-10-06 2016-06-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10196681B2 (en) 2011-10-06 2019-02-05 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10424394B2 (en) 2011-10-06 2019-09-24 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9984198B2 (en) 2011-10-06 2018-05-29 Sequenom, Inc. Reducing sequence read count error in assessment of complex genetic variations
US20140242588A1 (en) 2011-10-06 2014-08-28 Sequenom, Inc Methods and processes for non-invasive assessment of genetic variations
EP2805280B1 (en) 2012-01-20 2022-10-05 Sequenom, Inc. Diagnostic processes that factor experimental conditions
US10504613B2 (en) 2012-12-20 2019-12-10 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9920361B2 (en) 2012-05-21 2018-03-20 Sequenom, Inc. Methods and compositions for analyzing nucleic acid
US10497461B2 (en) 2012-06-22 2019-12-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20130309666A1 (en) 2013-01-25 2013-11-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2014130589A1 (en) * 2013-02-20 2014-08-28 Bionano Genomics, Inc. Characterization of molecules in nanofluidics
US10844424B2 (en) 2013-02-20 2020-11-24 Bionano Genomics, Inc. Reduction of bias in genomic coverage measurements
WO2014133369A1 (ko) * 2013-02-28 2014-09-04 주식회사 테라젠이텍스 유전체 서열분석을 이용한 태아 염색체 이수성의 진단 방법 및 장치
EP4187543A1 (en) * 2013-04-03 2023-05-31 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10699800B2 (en) 2013-05-24 2020-06-30 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CN112037860B (zh) * 2013-06-13 2024-02-23 豪夫迈·罗氏有限公司 用于非入侵性性染色体非整倍性确定的统计分析
KR102299305B1 (ko) 2013-06-21 2021-09-06 시쿼넘, 인코포레이티드 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
DK3053071T3 (da) 2013-10-04 2024-01-22 Sequenom Inc Fremgangsmåder og processer til ikke-invasiv bedømmelse af genetiske variationer
EP3495496B1 (en) 2013-10-07 2020-11-25 Sequenom, Inc. Methods and processes for non-invasive assessment of chromosome alterations
JP6534191B2 (ja) * 2013-10-21 2019-06-26 ベリナタ ヘルス インコーポレイテッド コピー数変動を決定することにおける検出の感度を向上させるための方法
CN103525939B (zh) * 2013-10-28 2015-12-02 博奥生物集团有限公司 无创检测胎儿染色体非整倍体的方法和系统
CN106164295B (zh) * 2014-02-25 2020-08-11 生物纳米基因公司 减小基因组覆盖测量中的偏差
JP6659672B2 (ja) 2014-05-30 2020-03-04 ベリナタ ヘルス インコーポレイテッド 胎児染色体部分異数性およびコピー数変動の検出
CN104156631B (zh) * 2014-07-14 2017-07-18 天津华大基因科技有限公司 染色体三倍体检验方法
WO2016010401A1 (ko) * 2014-07-18 2016-01-21 에스케이텔레콘 주식회사 산모의 혈청 dna를 이용한 태아의 단일유전자 유전변이의 예측방법
EP3175000B1 (en) 2014-07-30 2020-07-29 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2016045106A1 (zh) * 2014-09-26 2016-03-31 深圳华大基因股份有限公司 单细胞染色体的cnv分析方法和检测装置
AU2015360298B2 (en) 2014-12-12 2018-06-07 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
CN104789466B (zh) * 2015-05-06 2018-03-13 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和装置
BE1022789B1 (nl) * 2015-07-17 2016-09-06 Multiplicom Nv Werkwijze en systeem voor geslachtsinschatting van een foetus van een zwangere vrouw
KR101817785B1 (ko) * 2015-08-06 2018-01-11 이원다이애그노믹스(주) 다양한 플랫폼에서 태아의 성별과 성염색체 이상을 구분할 수 있는 새로운 방법
KR101678962B1 (ko) 2015-08-21 2016-12-06 이승재 대규모 병렬형 게놈서열분석 방법을 이용한 비침습적 산전검사 장치 및 방법
WO2017051996A1 (ko) * 2015-09-24 2017-03-30 에스케이텔레콤 주식회사 비침습적 태아 염색체 이수성 판별 방법
CN105354443A (zh) * 2015-12-14 2016-02-24 孔祥军 无创产前基因检测分析软件
CN105483229B (zh) * 2015-12-21 2018-10-16 广东腾飞基因科技股份有限公司 一种检测胎儿染色体非整倍体的方法及系统
KR101817180B1 (ko) * 2016-01-20 2018-01-10 이원다이애그노믹스(주) 염색체 이상 판단 방법
US10095831B2 (en) 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
EP3414691A1 (en) * 2016-02-12 2018-12-19 Regeneron Pharmaceuticals, Inc. Methods and systems for detection of abnormal karyotypes
JP6785068B2 (ja) * 2016-05-31 2020-11-18 富士フイルム株式会社 生物情報解析方法
CN106096330B (zh) * 2016-05-31 2019-02-01 北京百迈客医学检验所有限公司 一种无创产前生物信息检测分析方法
US11200963B2 (en) 2016-07-27 2021-12-14 Sequenom, Inc. Genetic copy number alteration classifications
EP3575399B1 (en) 2017-01-24 2024-10-09 BGI Shenzhen Exosomal dna-based method for performing non-invasive prenatal diagnosis and application thereof
WO2018140521A1 (en) 2017-01-24 2018-08-02 Sequenom, Inc. Methods and processes for assessment of genetic variations
PT3596233T (pt) 2017-03-17 2022-08-22 Sequenom Inc Métodos e processos para avaliação de mosaicismo genético
CN110914456A (zh) * 2017-03-31 2020-03-24 普莱梅沙有限公司 检测胎儿染色体异常的方法
US11342047B2 (en) 2017-04-21 2022-05-24 Illumina, Inc. Using cell-free DNA fragment size to detect tumor-associated variant
SG11202006110UA (en) 2018-01-05 2020-07-29 Billiontoone Inc Quality control templates for ensuring validity of sequencing-based assays
WO2019195975A1 (zh) * 2018-04-09 2019-10-17 深圳华大生命科学研究院 基因文库的构建方法及其应用
CN111918965A (zh) * 2018-04-28 2020-11-10 深圳华大生命科学研究院 一种胎儿游离核酸的富集方法及其应用
WO2019227420A1 (zh) * 2018-05-31 2019-12-05 深圳华大临床检验中心 确定男性待测样本是否存在三倍体的方法、系统和计算机可读介质
CN109192243B (zh) * 2018-08-13 2021-03-12 成都凡迪医学检验所有限公司 染色体比例的修正方法、装置、介质
WO2020051542A2 (en) * 2018-09-07 2020-03-12 Illumina, Inc. A method to determine if a circulating fetal cell isolated from a pregnant mother is from either the current or a historical pregnancy
KR20200106643A (ko) 2019-03-05 2020-09-15 (주)인실리코젠 바코드 서열 정보 기반 고민감도 유전변이 탐지 및 레포팅 시스템
WO2020226528A1 (ru) * 2019-05-08 2020-11-12 Общество с ограниченной ответственностью "ГЕНОТЕК ИТ" Способ определения кариотипа плода беременной женщины
CN110211654A (zh) * 2019-05-30 2019-09-06 湖南自兴智慧医疗科技有限公司 一种自动隐藏性别信息的核型检测系统及方法
CN111627498B (zh) * 2020-05-21 2022-10-04 北京吉因加医学检验实验室有限公司 一种测序数据gc偏向性校正的方法及其装置
RU2752783C1 (ru) * 2020-12-18 2021-08-03 Федеральное государственное бюджетное учреждение "Ивановский научно-исследовательский институт материнства и детства имени В.Н. Городкова" Министерства здравоохранения Российской Федерации Способ прогнозирования анеуплоидии эмбрионов в программе экстракорпорального оплодотворения у женщин с эндометриоз-ассоциированным бесплодием
US20240355415A1 (en) * 2021-09-03 2024-10-24 Institut National De La Sante Et De La Recherche Medicale Methods and devices for non-invasive prenatal testing
AU2023240345A1 (en) 2022-03-21 2024-10-10 Billion Toone, Inc. Molecule counting of methylated cell-free dna for treatment monitoring
WO2025208288A1 (zh) * 2024-04-01 2025-10-09 深圳华大生命科学研究院 基因预测方法、装置、计算机设备及计算机可读存储介质
CN119936386B (zh) * 2025-01-21 2025-12-16 北京航空航天大学杭州创新研究院 一种单分子免疫检测原料及其检测方法

Family Cites Families (30)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US10021A (en) * 1853-09-13 Screw-eastemtito- for boots and shoes
GB9704444D0 (en) 1997-03-04 1997-04-23 Isis Innovation Non-invasive prenatal diagnosis
US20010051341A1 (en) 1997-03-04 2001-12-13 Isis Innovation Limited Non-invasive prenatal diagnosis
US6492144B1 (en) 1997-05-30 2002-12-10 Diagen Corporation Methods for detection of nucleic acid sequences in urine
USRE39920E1 (en) 1997-05-30 2007-11-13 Xenomics, Inc. Methods for detection of nucleic acid sequences in urine
DK0920539T3 (da) 1997-05-30 2006-07-24 Xenomics Fremgangsmåder til detektion af nukleinsyresekvenser i urin
US20020119478A1 (en) 1997-05-30 2002-08-29 Diagen Corporation Methods for detection of nucleic acid sequences in urine
WO2005007869A2 (en) 2003-07-10 2005-01-27 Third Wave Technologies, Inc. Assays for the direct measurement of gene dosage
DE60328193D1 (de) 2003-10-16 2009-08-13 Sequenom Inc Nicht invasiver Nachweis fötaler genetischer Merkmale
US20100216153A1 (en) * 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
US20060046258A1 (en) 2004-02-27 2006-03-02 Lapidus Stanley N Applications of single molecule sequencing
US20100216151A1 (en) 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
HUE030215T2 (en) 2006-02-02 2017-04-28 Univ Leland Stanford Junior Non-invasive fetal genetic screening by digital analysis
US20100184044A1 (en) 2006-02-28 2010-07-22 University Of Louisville Research Foundation Detecting Genetic Abnormalities
US7799531B2 (en) 2006-02-28 2010-09-21 University Of Louisville Research Foundation Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms
US20100184043A1 (en) 2006-02-28 2010-07-22 University Of Louisville Research Foundation Detecting Genetic Abnormalities
US20080038733A1 (en) 2006-03-28 2008-02-14 Baylor College Of Medicine Screening for down syndrome
US8137912B2 (en) 2006-06-14 2012-03-20 The General Hospital Corporation Methods for the diagnosis of fetal abnormalities
EP2589668A1 (en) 2006-06-14 2013-05-08 Verinata Health, Inc Rare cell analysis using sample splitting and DNA tags
US20080124721A1 (en) 2006-06-14 2008-05-29 Martin Fuchs Analysis of rare cell-enriched samples
US20080050739A1 (en) 2006-06-14 2008-02-28 Roland Stoughton Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats
EP2029779A4 (en) 2006-06-14 2010-01-20 Living Microsystems Inc HIGHLY PARALLEL SNP GENOTYPING UTILIZATION FOR FETAL DIAGNOSIS
EP3424598B1 (en) 2006-06-14 2022-06-08 Verinata Health, Inc. Rare cell analysis using sample splitting and dna tags
US20080026390A1 (en) 2006-06-14 2008-01-31 Roland Stoughton Diagnosis of Fetal Abnormalities by Comparative Genomic Hybridization Analysis
WO2008014516A2 (en) 2006-07-28 2008-01-31 Living Microsystems, Inc. Selection of cells using biomarkers
EP2140027B1 (en) 2006-12-07 2012-07-18 Novartis AG Non-invasive prenatal genetic screen
US12180549B2 (en) 2007-07-23 2024-12-31 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
HUE061020T2 (hu) 2007-07-23 2023-05-28 Univ Hong Kong Chinese Nukleinsav-szekvencia kiegyensúlyozatlanságának meghatározására
ES2620012T3 (es) 2008-09-20 2017-06-27 The Board Of Trustees Of The Leland Stanford Junior University Diagnóstico no invasivo de la aneuploidia fetal por secuenciación
US9547748B2 (en) 2011-06-29 2017-01-17 Bgi Health Service Co., Ltd. Method for determining fetal chromosomal abnormality

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