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1. 发明申请

US20070212689A1 Prenatal Diagnosis Using Cell-Free Fetal DNA in Amniotic Fluid 审中-公开
标题翻译：在羊水中使用无细胞胎儿DNA进行产前诊断
公开(公告)号：US20070212689A1
公开(公告)日：2007-09-13
申请号：US10577341
申请日：2004-10-29
申请人： Diana Bianchi , Paige Larrabee , Kirby Johnson
发明人： Diana Bianchi , Paige Larrabee , Kirby Johnson
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6806 , C12Q1/6883 , C12Q2600/156 , G01N21/6428 , C12Q2565/501 , C12Q2523/32
摘要： The present invention relates to improved methods of prenatal diagnosis, screening, monitoring and/or testing. The inventive methods include the analysis by array-based hybridization of cell-free fetal DNA isolated from amniotic fluid. In addition to allowing the prenatal diagnosis of a variety of diseases and conditions, and the assessment of fetal characteristics such as fetal sex and chromosomal abnormalities, the new inventive methods provide substantially more information about the fetal genome in less time than it takes to perform a conventional metaphase karyotype analysis. In particular, the enhanced molecular karyotype methods provided by the present invention allow the detection of chromosomal aberrations that are not often detected prenatally such as microdeletions, microduplications and subtelomeric rearrangements.
摘要翻译：本发明涉及产前诊断，筛选，监测和/或测试的改进方法。本发明的方法包括通过从羊水分离的无细胞胎儿DNA的阵列杂交进行分析。除了允许产前诊断各种疾病和状况以及胎儿特性如胎儿性别和染色体异常的评估之外，新的发明方法提供了比进行胎儿基因组所需时间更少的关于胎儿基因组的更多信息常规中期核型分析。特别地，由本发明提供的增强的分子核型方法允许检测不常检测到的染色体异常，例如微缺失，微复制和亚端粒重排。

2. 发明申请

US20060003342A1 Fetal RNA in amniotic fluid to determine gene expression in the developing fetus 审中-公开
标题翻译：羊水中的胎儿RNA以确定发育中的胎儿中的基因表达
公开(公告)号：US20060003342A1
公开(公告)日：2006-01-05
申请号：US11036815
申请日：2005-01-14
申请人： Diana Bianchi , Paige Larrabee , Kirby Johnson
发明人： Diana Bianchi , Paige Larrabee , Kirby Johnson
IPC分类号： C12Q1/68 , C07H21/02
CPC分类号： C12Q1/6881 , C12Q2600/158
摘要： The present invention provides improved methods of prenatal diagnosis, monitoring, screening and/or testing. The invention is based, at least in part, on the discovery that amniotic fluid is a rich source of cell-free fetal RNA. Methods of isolation and analysis of fetal RNA are described, that can lead to information about fetal gene expression that is not available by other techniques. The inventive systems allow for a more comprehensive determination of a living human fetus' health, growth and development and for the prenatal diagnosis of a variety of diseases and conditions.
摘要翻译：本发明提供了产前诊断，监测，筛选和/或测试的改进方法。本发明至少部分地基于羊水是无细胞胎儿RNA的丰富来源的发现。描述了分离和分析胎儿RNA的方法，其可以导致关于胎儿基因表达的信息，其不能用于其它技术。本发明的系统允许更全面地确定活的人类胎儿的健康，生长和发育以及各种疾病和病症的产前诊断。

3. 发明申请

US20110150775A1 GENOMIC APPROACHES TO FETAL TREATMENT AND DIAGNOSIS 审中-公开
标题翻译：基因治疗和诊断方法
公开(公告)号：US20110150775A1
公开(公告)日：2011-06-23
申请号：US12993881
申请日：2009-06-01
申请人： Donna Slonim , Kirby Johnson , Diana Bianchi
发明人： Donna Slonim , Kirby Johnson , Diana Bianchi
IPC分类号： A61K49/00 , C40B30/02 , A61K31/56 , A61K31/137 , A61K31/44 , A61K33/34 , A61K31/19 , A61K31/5415 , A61K31/395 , A61K31/60 , A61K31/4355 , A61K31/196 , A61K31/52 , A61K31/405 , A61K31/352 , A61K31/337 , A61K31/047 , A61K31/55 , A61K31/54 , A61K31/517 , A61K31/167 , A61K31/706 , A61K31/415 , A61K31/566 , A61K31/4164 , A61K31/195 , A61K31/197 , A61K31/201 , A61K31/407 , C12Q1/68 , A61P43/00
CPC分类号： C12Q1/6886 , C12Q1/6837 , C12Q2600/136 , C12Q2600/156 , C12Q2600/158
摘要： The present invention provides systems for developing and/or testing therapies for prenatal diseases and conditions including Down Syndrome. The present invention also provides diagnostic methods for Down Syndrome involving, in some embodiments, gene expression analyses of fetal RNA and/or detection of expression of particular genes involved in Down Syndrome. Also provided are microarrays and kits useful in prenatal diagnostic applications.
摘要翻译：本发明提供用于开发和/或测试产前疾病和包括唐氏综合征的病症的系统。本发明还提供了唐氏综合症的诊断方法，在一些实施方案中涉及胎儿RNA的基因表达分析和/或检测涉及唐氏综合征的特定基因的表达。还提供了可用于产前诊断应用的微阵列和试剂盒。

4. 发明申请

US20070111233A1 Prenatal diagnosis using cell-free fetal DNA in amniotic fluid 审中-公开
标题翻译：产前诊断在羊水中使用无细胞胎儿DNA
公开(公告)号：US20070111233A1
公开(公告)日：2007-05-17
申请号：US11514096
申请日：2006-08-31
申请人： Diana Bianchi , Kirby Johnson , Olav Lapaire
发明人： Diana Bianchi , Kirby Johnson , Olav Lapaire
IPC分类号： C12Q1/68 , C07H21/04 , C12N1/08
CPC分类号： C12N15/1006
摘要： The present invention relates to improved methods of prenatal diagnosis, screening, monitoring and/or testing. The inventive methods include the analysis by array-based hybridization of cell-free fetal DNA isolated from amniotic fluid. In addition to allowing the prenatal diagnosis of a variety of diseases and conditions, and the assessment of fetal characteristics such as fetal sex and chromosomal abnormalities, the new inventive methods provide substantially more information about the fetal genome in less time than it takes to perform a conventional metaphase karyotype analysis. In particular, the enhanced molecular karyotype methods provided by the present invention allow the detection of chromosomal aberrations that are not often detected prenatally such as microdeletions, microduplications and subtelomeric rearrangements. Also provided are improved methods of extraction of fetal DNA from amniotic fluid.
摘要翻译：本发明涉及产前诊断，筛选，监测和/或测试的改进方法。本发明的方法包括通过从羊水分离的无细胞胎儿DNA的阵列杂交进行分析。除了允许产前诊断各种疾病和状况，以及胎儿特性如胎儿性别和染色体异常的评估之外，新的发明方法提供了更多关于胎儿基因组的信息，其时间要比执行胎儿常规中期核型分析。特别地，由本发明提供的增强的分子核型方法允许检测不常检测到的染色体异常，例如微缺失，微复制和亚端粒重排。还提供了从羊水中提取胎儿DNA的改进方法。

5. 发明申请

US20110118125A1 NEONATAL SALIVARY GENOMICS 审中-公开
标题翻译：新生唾液基因组学
公开(公告)号：US20110118125A1
公开(公告)日：2011-05-19
申请号：US12990855
申请日：2009-05-01
申请人： Jill Maron , Diana Bianchi , Kirby Johnson , Donna Slonim
发明人： Jill Maron , Diana Bianchi , Kirby Johnson , Donna Slonim
IPC分类号： C40B20/04 , C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/158
摘要： The present invention provides systems for assessing neonatal development and/or conditions by analyzing neonatal saliva RNA. Methods of identifying genes involved in neonatal development and/or conditions affecting neonates, are provided. Methods of determining a diagnosis of a neonate comprising detection of one or more differentially expressed genes are also provided.
摘要翻译：本发明提供了通过分析新生儿唾液RNA来评估新生儿发育和/或病症的系统。提供了鉴定涉及新生儿发育和/或影响新生儿的病症的基因的方法。还提供了确定包括检测一种或多种差异表达基因的新生儿的诊断的方法。

6. 发明申请

US20070122823A1 Amniotic fluid cell-free fetal DNA fragment size pattern for prenatal diagnosis 审中-公开
标题翻译：羊水细胞无胎儿DNA片段大小模式进行产前诊断
公开(公告)号：US20070122823A1
公开(公告)日：2007-05-31
申请号：US11513797
申请日：2006-08-31
申请人： Diana Bianchi , Kirby Johnson , Olav Lapaire
发明人： Diana Bianchi , Kirby Johnson , Olav Lapaire
IPC分类号： C12Q1/68 , G06F19/00
CPC分类号： C12Q1/6883 , C12Q2565/125 , C12Q2600/156
摘要： The present invention relates to improved methods of prenatal diagnosis, screening, monitoring and/or testing. The inventive methods include analysis of the fragment size distribution of cell-free fetal DNA isolated from amniotic fluid. The inventive methods allow for rapid screening of fetal characteristics such as chromosomal abnormalities and for prenatal diagnosis of a variety of diseases and conditions. Since the new methods do not require cell culture, they can be performed more rapidly than conventional fetal karyotypes.
摘要翻译：本发明涉及产前诊断，筛选，监测和/或测试的改进方法。本发明的方法包括分析从羊水中分离的无细胞胎儿DNA的片段大小分布。本发明的方法允许快速筛选胎儿特征如染色体异常和用于各种疾病和病症的产前诊断。由于新方法不需要细胞培养，它们可以比常规胎儿核型更快地进行。

7. 发明申请

US20090181421A1 DIAGNOSIS OF FETAL ABNORMALITIES USING NUCLEATED RED BLOOD CELLS 审中-公开
标题翻译：使用核酸红血球细胞诊断宫颈异常
公开(公告)号：US20090181421A1
公开(公告)日：2009-07-16
申请号：US12172158
申请日：2008-07-11
申请人： Ravi Kapur , Diana Bianchi , Tom Barber , Mehmet Toner
发明人： Ravi Kapur , Diana Bianchi , Tom Barber , Mehmet Toner
IPC分类号： C12Q1/06
CPC分类号： G01N33/689 , B01L3/502761 , B01L2200/0647 , B01L2300/0816 , B01L2300/0864 , B01L2400/0409 , B01L2400/0472 , B01L2400/086 , B82Y15/00 , B82Y30/00 , G01N1/40 , G01N1/4077 , G01N33/80 , G01N2800/368
摘要： The present invention relates to methods for diagnosing a condition in a fetus by enriching and enumerating circulating red blood cells with the possible combination of results from maternal serum marker screens.
摘要翻译：本发明涉及通过用母体血清标记筛选结果的可能组合丰富和列举循环红细胞来诊断胎儿状况的方法。

8. 发明申请

US20070015171A1 Non-invasive method for isolation and detection of fetal DNA 审中-公开
标题翻译：用于分离和检测胎儿DNA的非侵入性方法
公开(公告)号：US20070015171A1
公开(公告)日：2007-01-18
申请号：US11283500
申请日：2005-11-17
申请人： Diana Bianchi
发明人： Diana Bianchi
IPC分类号： C12Q1/68 , C12P19/34
CPC分类号： G01N33/80 , C12Q1/6804 , C12Q1/6806 , C12Q1/6841 , C12Q1/686 , C12Q1/6876 , C12Q1/6879 , C12Q1/6881 , C12Q1/6883 , C12Q2600/156 , G01N33/5002 , G01N33/56966 , G01N33/56972 , G01N33/56977 , G01N2015/1006 , C12Q2547/00 , C12Q2545/113 , C12Q2543/10 , C12Q2565/626 , C12Q2565/137
摘要： A method of detecting the presence or absence of the fetal DNA sequence of interest in fetal DNA derived from a sample of peripheral blood obtained from a pregnant woman is described. The method involves obtaining a sample peripheral blood from a pregnant woman, treating the sample of peripheral blood such that the fetal DNA present in the fetal nucleated cells is made available for detection and detecting the presence or absence of the fetal DNA sequence of interest in the available fetal DNA. The proportion of fetal nucleated cells present in the sample of peripheral blood can be increased forming a sample enriched in fetal nucleated cells prior to the detection step. The fetal DNA sequence of interest can be detected by treating the peripheral blood sample such that fetal DNA present in the sample is made available for hybridization with a DNA probe and subsequently contacting the available fetal DNA with a DNA probe hybridizable to fetal DNA of interest under hybridization conditions. The presence or absence of hybridization between the DNA probe and the fetal DNA of interest is detected as an indication of the presence or absence of the fetal DNA of interest.
摘要翻译：描述了从孕妇获得的外周血样品的胎儿DNA中检测胎儿DNA序列的存在或不存在的方法。该方法包括获得来自孕妇的外周血样品，处理外周血样品，使胎儿有核细胞中存在的胎儿DNA可用于检测和检测胎儿DNA序列的存在或不存在。可用胎儿DNA。存在于外周血样品中的胎儿成核细胞的比例可以增加，在检测步骤之前形成富含胎儿成核细胞的样品。感兴趣的胎儿DNA序列可以通过处理外周血液样品来检测，使样本中存在的胎儿DNA可用于与DNA探针杂交，随后使可用的胎儿DNA与可与感兴趣的胎儿DNA杂交的DNA探针接触杂交条件。检测DNA探针与感兴趣的胎儿DNA之间是否存在杂交，作为感兴趣的胎儿DNA存在或不存在的指示。

9. 发明申请

US20060051775A1 Non-invasive method for isolation and detection of fetal DNA 审中-公开
公开(公告)号：US20060051775A1
公开(公告)日：2006-03-09
申请号：US11051982
申请日：2005-02-04
申请人： Diana Bianchi
发明人： Diana Bianchi
IPC分类号： C12Q1/68 , C12P19/34
CPC分类号： G01N33/80 , C12Q1/6804 , C12Q1/6806 , C12Q1/6841 , C12Q1/686 , C12Q1/6876 , C12Q1/6879 , C12Q1/6881 , C12Q1/6883 , C12Q2600/156 , G01N33/5002 , G01N33/56966 , G01N33/56972 , G01N33/56977 , G01N2015/1006 , C12Q2547/00 , C12Q2545/113 , C12Q2543/10 , C12Q2565/626 , C12Q2565/137
摘要： A method of detecting the presence or absence of the fetal DNA sequence of interest in fetal DNA derived from a sample of peripheral blood obtained from a pregnant woman is described. The method involves obtaining a sample peripheral blood from a pregnant woman, treating the sample of peripheral blood such that the fetal DNA present in the fetal nucleated cells is made available for detection and detecting the presence or absence of the fetal DNA sequence of interest in the available fetal DNA. The proportion of fetal nucleated cells present in the sample of peripheral blood can be increased forming a sample enriched in fetal nucleated cells prior to the detection step. The fetal DNA sequence of interest can be detected by treating the peripheral blood sample such that fetal DNA present in the sample is made available for hybridization with a DNA probe and subsequently contacting the available fetal DNA with a DNA probe hybridizable to fetal DNA of interest under hybridization conditions. The presence or absence of hybridization between the DNA probe and the fetal DNA of interest is detected as an indication of the presence or absence of the fetal DNA of interest.

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