FETAL ANEUPLOIDY DETECTION BY SEQUENCING
First Claim
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1. A method for detecting fetal abnormality comprising:
- 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.
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21 Claims
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1. A method for detecting fetal abnormality comprising:
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, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18)
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19. A method for detecting fetal abnormality comprising:
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enriching a maternal blood sample for fetal cells using size-based separation; 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, wherein said first genomic region is trisomic or suspected of trisomy, and wherein said second genomic region is non-trisomic. - View Dependent Claims (20)
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21-52. -52. (canceled)
Specification