Method for the detection of chromosomal aneuploidies
First Claim
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1. A method for detecting the presence of a chromosomal disorder in the fetus of a pregnant woman, comprising the steps of:
- (a) obtaining an RNA-containing biological sample from the pregnant woman, wherein the RNA-containing biological sample contains fetal RNA, and wherein the biological sample is selected from the group consisting of maternal blood, maternal plasma or serum, placental tissue, and a sample obtained via chorionic villus sampling (CVS);
(b) discriminating alleles from RNA transcribed from at least one genetic locus from at least one chromosome of concern;
(c) determining the ratio of the alleles of the RNA transcripts; and
(d) comparing the ratio from step (c) to a standard control representing a ratio of alleles from comparable biological samples obtained from pregnant women each carrying a chromosomally normal fetus, wherein an increase or decrease in the ratio from the standard control indicates an increased risk of having a fetus with a chromosomal disorder.
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Abstract
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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30 Claims
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1. A method for detecting the presence of a chromosomal disorder in the fetus of a pregnant woman, comprising the steps of:
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(a) obtaining an RNA-containing biological sample from the pregnant woman, wherein the RNA-containing biological sample contains fetal RNA, and wherein the biological sample is selected from the group consisting of maternal blood, maternal plasma or serum, placental tissue, and a sample obtained via chorionic villus sampling (CVS); (b) discriminating alleles from RNA transcribed from at least one genetic locus from at least one chromosome of concern; (c) determining the ratio of the alleles of the RNA transcripts; and (d) comparing the ratio from step (c) to a standard control representing a ratio of alleles from comparable biological samples obtained from pregnant women each carrying a chromosomally normal fetus, wherein an increase or decrease in the ratio from the standard control indicates an increased risk of having a fetus with a chromosomal disorder. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30)
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Specification