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    METHOD AND SYSTEM FOR ESTIMATING A GENDER OF A FOETUS OF A PREGNANT FEMALE
    1.
    发明申请
    METHOD AND SYSTEM FOR ESTIMATING A GENDER OF A FOETUS OF A PREGNANT FEMALE 审中-公开
    用于估计孕妇的性别的性别的方法和系统

    公开(公告)号：WO2017012954A1

    公开(公告)日：2017-01-26

    申请号：PCT/EP2016/066653

    申请日：2016-07-13

    Applicant: MULTIPLICOM NV

    Inventor： VAUTERIN, Paul ,  VYVERMAN, Michaël ,  DE SCHRIJVER, Joachim

    IPC: G06F19/18 ,  C12Q1/68

    CPC classification number: C12Q1/6809 ,  C12Q1/686 ,  C12Q1/6879 ,  C12Q2537/16 ,  C12Q2537/165 ,  C12Q2600/156 ,  G01N33/689 ,  G06F19/18 ,  G16H10/40 ,  G16H50/20

    Abstract: A method for estimating a gender of a foetus of a pregnant female, said method comprising measuring allele presences (Dx) for a first plurality of genetic markers of the X-chromosome and allele presences (DR) for a second plurality of genetic markers of at least one reference chromosome, different from the X and Y chromosome, in a sample of cell-free DNA from a pregnant female; based on said measured allele presences for said first plurality, determining a first fraction thereof which is associated with purely homozygous genetic markers; based on said measured allele presences for said second plurality, determining a second fraction thereof which is associated with purely homozygous genetic markers; and estimating a gender of said foetus based on said first and second fraction.

    Abstract translation: 一种用于估计怀孕女性胎儿性别的方法，所述方法包括测量X染色体的第一多个遗传标记的等位基因存在（Dx）和第二多个遗传标记的等位基因存在（DR） 来自怀孕女性的无细胞DNA样品中至少一个参考染色体，与X和Y染色体不同; 基于所述第一多个测量的等位基因存在，确定与纯纯合遗传标记相关的第一部分; 基于所述第二多个测量的等位基因存在，确定与纯纯合遗传标记相关的第二部分; 以及基于所述第一和第二分数估计所述胎儿的性别。

    MASSIVELY PARALLEL SEQUENCING OF RANDOM DNA FRAGMENTS FOR DETERMINATION OF FETAL FRACTION
    3.
    发明申请
    MASSIVELY PARALLEL SEQUENCING OF RANDOM DNA FRAGMENTS FOR DETERMINATION OF FETAL FRACTION 审中-公开
    随机DNA片段的大量并行测序用于确定胎儿分数

    公开(公告)号：WO2014209597A3

    公开(公告)日：2015-02-26

    申请号：PCT/US2014041674

    申请日：2014-06-10

    Applicant: ARIOSA DIAGNOSTICS INC

    Inventor： OLIPHANT ARNOLD ,  WANG ERIC ,  STRUBLE CRAIG

    IPC: C40B20/00 ,  C12Q1/68 ,  C40B20/04

    CPC classification number: C12Q1/6879 ,  C12Q1/6876 ,  C12Q2600/156 ,  G06F19/18 ,  G06F19/22

    Abstract: The present invention provides methods for determining the fraction of fetal DNA in a maternal sample using massively parallel shotgun sequencing techniques and statistical probability calculations. The invention utilizes a novel method of identifying polymorphisms through the sequencing process that align to designated regions in the genome. By identifying a statistically significant number of such polymorphisms in multiple designated regions across the genome the fetal fraction, or estimation thereof, can be determined. In certain aspects, the observed distribution of polymorphisms in the genome of a maternal sample can be compared to a fetal proportion reference to estimate the fetal fraction in the sample.

    Abstract translation: 本发明提供了使用大规模并行鸟枪测序技术和统计概率计算确定母体样品中胎儿DNA分数的方法。 本发明利用通过与基因组中指定区域比对的测序过程鉴定多态性的新方法。 通过鉴定整个基因组中多个指定区域的统计学显着数目的此类多态性，可以确定胎儿分数或其估计。 在某些方面，观察到的母体样品基因组中多态性的分布可以与胎儿比例参考相比较以估计样品中的胎儿分数。

    METHOD FOR OBTAINING FETAL CELLS AND FETAL CELLULAR COMPONENTS
    6.
    发明申请
    METHOD FOR OBTAINING FETAL CELLS AND FETAL CELLULAR COMPONENTS 审中-公开
    用于获取细胞和细胞成分的方法

    公开(公告)号：WO2013192620A1

    公开(公告)日：2013-12-27

    申请号：PCT/US2013/047383

    申请日：2013-06-24

    Applicant: QUANTRX BIOMEDICAL CORPORATION ,  FLEMING, William, H. ,  HIRSCHMAN, Shalom, Z.

    Inventor： FLEMING, William, H. ,  HIRSCHMAN, Shalom, Z.

    IPC: A61B10/02 ,  A61B10/00 ,  C12N5/073 ,  G01N33/50

    CPC classification number: A61B10/0048 ,  A61B10/02 ,  A61B10/0291 ,  A61B2010/0074 ,  A61F13/84 ,  A61F2013/8473 ,  C12N5/0606 ,  C12Q1/6879 ,  G01N2800/36

    Abstract: Methods are disclosed for non-invasively obtaining fetal cells from a pregnant female. The methods include placing an absorbent medium in an interlabial or intravaginal space or adjacent to the perineum at the vaginal opening of the pregnant female, and collecting vaginal fluid comprising cells in the absorbent medium while the absorbent medium is interlabial or intravaginal space or adjacent to the perineum at the vaginal opening. The absorbent medium is removed and cells are isolated from the absorbent medium to obtain the fetal cells. The fetal cells can be, for example, somatic cells, embroyic stem cells, fetal stem cells or trophoblast cells.

    Abstract translation: 公开了从怀孕女性非侵入性获得胎儿细胞的方法。 所述方法包括将吸收剂介质置于阴道内或阴道内空间中或毗邻孕妇阴道开口处的会阴部，并且在吸收介质为阴唇间或阴道内空间或与其相邻的位置处收集包含细胞的吸收性介质中的阴道液 会阴在阴道口。 除去吸收剂介质，并从吸收介质中分离细胞以获得胎儿细胞。 胎儿细胞可以是例如体细胞，刺激性干细胞，胎儿干细胞或滋养层细胞。

    NUCLEIC ACID-BASED TESTS FOR PRENATAL GENDER DETERMINATION
    10.
    发明申请
    NUCLEIC ACID-BASED TESTS FOR PRENATAL GENDER DETERMINATION 审中-公开
    用于初步性别测定的基于核酸的测试

    公开(公告)号：WO2009114543A3

    公开(公告)日：2010-04-15

    申请号：PCT/US2009036683

    申请日：2009-03-10

    Applicant: SEQUENOM INC ,  OETH PAUL ANDREW ,  MAHBOUBI PAYAM ,  LEE MIN SEOB

    Inventor： OETH PAUL ANDREW ,  MAHBOUBI PAYAM ,  LEE MIN SEOB

    IPC: C12Q1/68 ,  C07H21/04 ,  C12N15/11

    CPC classification number: C12Q1/6879 ,  C12Q2600/16

    Abstract: Provided herein are compositions, processes and kits for noninvasive, early determination of fetal sex from, and/or amount of fetal nucleic acid in, an extracellular nucleic acid sample from a pregnant female. Such compositions, processes and kits are useful for detection of low genomic copy numbers of male fetal nucleic acid in a high copy number background of female nucleic acid, thereby determining the sex of a fetus and/or amount of fetal nucleic acid in a sample.

    Abstract translation: 本文提供了从怀孕女性的细胞外核酸样品中非侵入性早期测定胎儿性别和/或胎儿核酸量的组合物，方法和试剂盒。 这样的组合物，方法和试剂盒可用于检测雌性核酸的高拷贝数背景下的雄性胎儿核酸的低基因组拷贝数，从而确定样品中胎儿的性别和/或胎儿核酸的量。

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