USE OF HIGHLY PARALLEL SNP GENOTYPING FOR FETAL DIAGNOSIS
First Claim
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1. A method for detecting fetal abnormality comprising:
- a. determining a ratio of abundance of maternal allele(s) to abundance of paternal allele(s) in genomic DNA from fetal cells enriched from a maternal blood sample using size-based separation.
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Abstract
The present invention provides apparatus and methods for enriching components or cells from a sample and conducting genetic analysis, such as SNP genotyping to provide diagnostic results for fetal disorders or conditions.
336 Citations
37 Claims
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1. A method for detecting fetal abnormality comprising:
a. determining a ratio of abundance of maternal allele(s) to abundance of paternal allele(s) in genomic DNA from fetal cells enriched from a maternal blood sample using size-based separation. - View Dependent Claims (2, 3, 5, 6, 7, 8, 9, 10, 11, 12, 15, 16, 17)
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4. (canceled)
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13-14. -14. (canceled)
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18. (canceled)
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19. A method for detecting fetal abnormality comprising:
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b. enriching a maternal blood sample for fetal cells using size-based separation;
c. determining a ratio of allele abundance in said enriched maternal blood sample by comparing an abundance of one or more maternal alleles in a first genomic region with an abundance of one or more maternal alleles in a second genomic region, d. wherein said first genomic region is trisomic or suspected of trisomy, and e. wherein said second genomic region is non-trisomic. - View Dependent Claims (20, 21, 22, 23, 26, 27, 28, 32, 33)
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24-25. -25. (canceled)
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29-31. -31. (canceled)
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34-35. -35. (canceled)
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36. A method for detecting fetal abnormality comprising:
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f. comparing an abundance of one or more maternal alleles in genomic DNA in a maternal blood sample with an abundance of one or more maternal alleles in said genomic DNA in a blood sample, wherein g. a first region of said genomic DNA is trisomic or suspected of trisomy, and, h. a second region of said genomic DNA is non-trisomic.
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37-52. -52. (canceled)
Specification