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US07645576B2 Method for the detection of chromosomal aneuploidies 有权
染色体非整倍体检测方法

Method for the detection of chromosomal aneuploidies
摘要:
The non-invasive detection of fetal chromosomal aneuploidies is demonstrated. Alleles of fetal RNA-SNPs present in a biological sample (e.g. maternal blood) containing fetal RNA are detected and quantified in order to determine the ratio of the alleles. This ratio is compared to a standard control consisting of euploid fetuses. Deviation of allele ratio indicates the presence of chromosomal aneuploidy.
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