Methods for prenatal diagnosis of chromosomal abnormalities
    42.
    发明申请
    Methods for prenatal diagnosis of chromosomal abnormalities 有权
    产前诊断染色体异常的方法

    公开(公告)号:US20070059707A1

    公开(公告)日:2007-03-15

    申请号:US10575119

    申请日:2004-10-08

    Abstract: Chromosomal abnormalities are responsible for a significant number of birth defects, including mental retardation. The present invention is related to methods for non-invasive and rapid, prenatal diagnosis of chromosomal abnormalities based on analysis of a maternal blood sample. The invention exploits the differences in DNA between the mother and fetus, for instance differences in their methylation states, as a means to enrich for fetal DNA in maternal plasma sample. The methods described herein can be used to detect chromosomal DNA deletions and duplications. In a preferred embodiment, the methods are used to diagnose chromosomal aneuploidy and related disorders, such as Down's and Turner's Syndrome.

    Abstract translation: 染色体异常负责大量的出生缺陷,包括精神发育迟滞。 本发明涉及基于母体血液样品分析的非侵入性和快速,产前诊断染色体异常的方法。 本发明利用母体和胎儿之间的DNA差异,例如甲基化状态的差异,作为富集母体血浆样品中胎儿DNA的手段。 本文描述的方法可用于检测染色体DNA缺失和重复。 在优选的实施方案中,所述方法用于诊断染色体非整倍体和相关疾病,例如唐氏和特纳综合征。

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