Fetal cell analysis using sample splitting
First Claim
1. A method for performing prenatal diagnosis of a fetal aneuploidy in a blood sample from a human suspected of being pregnant, who is pregnant, or who has been pregnant, the method comprising:
- obtaining a mixture of fetal and maternal cells from a blood sample obtained from a human suspected of being pregnant, who is pregnant, or who has been pregnant;
enriching the mixture of cells for fetal cells to obtain a mixed cell preparation enriched for fetal cells;
distributing the enriched mixed cell population into individual reaction samples at discrete addressable locations such that a portion of the reaction samples contain single fetal cells;
identifying reaction samples containing a single fetal cell;
obtaining nucleic acids from the single fetal cells;
sequencing the nucleic acids to produce partial or complete genome sequences;
based on the sequences, quantifying DNA regions from a chromosome suspected of being aneuploid in the fetus; and
determining the presence or absence of a fetal aneuploidy from the quantitation of the chromosomal DNA regions.
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Abstract
The present invention provides systems, apparatuses, and methods to detect the presence of fetal cells when mixed with a population of maternal cells in a sample and to test fetal abnormalities, e.g. aneuploidy. The present invention involves labeling regions of genomic DNA in each cell in said mixed sample with different labels wherein each label is specific to each cell and quantifying the labeled regions of genomic DNA from each cell in the mixed sample. More particularly the invention involves quantifying labeled DNA polymorphisms from each cell in the mixed sample.
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Citations
20 Claims
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1. A method for performing prenatal diagnosis of a fetal aneuploidy in a blood sample from a human suspected of being pregnant, who is pregnant, or who has been pregnant, the method comprising:
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obtaining a mixture of fetal and maternal cells from a blood sample obtained from a human suspected of being pregnant, who is pregnant, or who has been pregnant; enriching the mixture of cells for fetal cells to obtain a mixed cell preparation enriched for fetal cells; distributing the enriched mixed cell population into individual reaction samples at discrete addressable locations such that a portion of the reaction samples contain single fetal cells; identifying reaction samples containing a single fetal cell; obtaining nucleic acids from the single fetal cells; sequencing the nucleic acids to produce partial or complete genome sequences; based on the sequences, quantifying DNA regions from a chromosome suspected of being aneuploid in the fetus; and determining the presence or absence of a fetal aneuploidy from the quantitation of the chromosomal DNA regions. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20)
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Specification