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公开(公告)号:US10745754B2
公开(公告)日:2020-08-18
申请号:US15039589
申请日:2014-11-25
发明人: Ray O. Bahado-Singh
IPC分类号: C12Q1/6883
摘要: Particular aspects of the invention confirm significant differences in methylation of cytosine bases in many loci throughout the genome in cases of congenital heart defect (CHD) compared to normal cases without CHD. Additional aspects provide novel methods for the prediction of congenital heart defects that can be applied to embryos, fetuses, newborns and different stages of postnatal life including childhood and any time in later postnatal life, is disclosed. The method is applicable not only to deoxyribonucleic acid (DNA) found in body fluids such as blood, urine, sputum, amniotic fluid and other tissues of affected individuals in pre- and post-natal life. Statistical techniques for estimating an individual's risk of having CHD by comparing the degree of methylation of specific cytosine loci throughout the DNA in an individual being tested and comparing this to the percentage of cytosine at sites in two populations of individuals: one with CHD and the other a reference population of normal cases without CHD, are described. Individual risk for having specific types of CHD or CHD overall can also be determined based on the invention.
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公开(公告)号:US20150087553A1
公开(公告)日:2015-03-26
申请号:US14394167
申请日:2013-04-12
CPC分类号: G01N33/689 , G01N33/50 , G01N33/6812 , G01N2800/368 , G01N2800/50
摘要: The present invention is directed to methods for predicting a pregnant woman's risk of developing early-onset preeclampsia or late-onset preeclampsia. The methods are based on measuring one or more metabolites obtained from a pregnant woman's bodily fluid, such as blood or urine, which were found to be predictive of early-onset preeclampsia and late-onset preeclampsia.
摘要翻译: 本发明涉及用于预测孕妇发展早发型先兆子痫或迟发性先兆子痫的风险的方法。 这些方法基于测量从孕妇的体液(例如血液或尿液)获得的一种或多种代谢物,其被发现可预测早发型先兆子痫和晚发型先兆子痫。
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公开(公告)号:US20170156627A1
公开(公告)日:2017-06-08
申请号:US15039121
申请日:2014-11-25
CPC分类号: A61B5/055 , A61B5/4343 , A61B8/0866 , A61B2503/045 , G01N33/6893 , G01N2560/00 , G01N2800/32 , G01N2800/385 , G01R33/4625 , G01R33/465
摘要: Particular aspects of the invention are methods for assaying metabolite levels in samples from a patient during pregnancy using nuclear magnetic resonance and direct flow injection mass spectrometry. In various methods, the assayed metabolites may be acylcarnitine or one or more of C3-OH (hydroxypropionylcarnitine), C5-OH (C3DC), C10, C5:1-DC (glutaconylcarnitine), C14:1-OH (hydroxytetradecenoylcarnitine) and C14:2-OH. One or more methods also may include measuring nuchal translucency of the fetus. Other methods relate to predicting fetal congenital heart defects in a fetus.
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公开(公告)号:US20170166965A1
公开(公告)日:2017-06-15
申请号:US15039589
申请日:2014-11-25
发明人: Ray O. Bahado-Singh
IPC分类号: C12Q1/68
摘要: Particular aspects of the invention confirm significant differences in methylation of cytosine bases in many loci throughout the genome in cases of congenital heart defect (CHD) compared to normal cases without CHD. Additional aspects provide novel methods for the prediction of congenital heart defects that can be applied to embryos, fetuses, newborns and different stages of postnatal life including childhood and any time in later postnatal life, is disclosed. The method is applicable not only to deoxyribonucleic acid (DNA) found in body fluids such as blood, urine, sputum, amniotic fluid and other tissues of affected individuals in pre- and post-natal life. Statistical techniques for estimating an individual's risk of having CHD by comparing the degree of methylation of specific cytosine loci throughout the DNA in an individual being tested and comparing this to the percentage of cytosine at said sites in two populations of individuals: one with CHD and the other a reference population of normal cases without CHD, are described. Individual risk for having specific types of CHD or CHD overall can also be determined based on the invention.
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公开(公告)号:US20150080263A1
公开(公告)日:2015-03-19
申请号:US14394199
申请日:2013-04-12
CPC分类号: G01N33/70 , G01N33/492 , G01N33/50 , G01N33/6806 , G01N33/6812 , G01N2570/00 , G01N2800/387 , G16H50/30 , Y10T436/147777 , Y10T436/173845 , Y10T436/201666 , Y10T436/203332
摘要: The present invention is directed to methods for predicting a pregnant woman's risk of carrying a fetus with Down syndrome (Trisomy 21) or Trisomy 18. The methods are based on measuring one or more metabolites obtained from a pregnant woman's bodily fluid, such as blood or urine, and found to be predictive of Trisomy 21 or Trisomy 18.
摘要翻译: 本发明涉及用于预测怀孕妇女携带唐氏综合征(三体性21)或三体性18的胎儿的风险的方法。该方法基于测量从孕妇身体液体获得的一种或多种代谢物,例如血液或 尿,并发现可预测三体积21或三体18。
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