DIAGNOSIS OF FETAL ABNORMALITIES USING POLYMORPHISMS INCLUDING SHORT TANDEM REPEATS
First Claim
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1. A method for diagnosing a fetal abnormality comprising:
- enriching one or more fetal cells from a maternal blood sample using size-based separation, analyzing one or more regions of genomic DNA from said fetal cells for STRs, and determining a fetal abnormality based on the STR analysis.
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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, i.e. aneuploidy. In addition, the present invention provides methods to determine when there are insufficient fetal cells for a determination and report a non-informative case. The present invention involves quantifying regions of genomic DNA from a mixed sample. More particularly the invention involves quantifying DNA polymorphisms from the mixed sample.
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Citations
100 Claims
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1. A method for diagnosing a fetal abnormality comprising:
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enriching one or more fetal cells from a maternal blood sample using size-based separation, analyzing one or more regions of genomic DNA from said fetal cells for STRs, and determining a fetal abnormality based on the STR analysis. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 10, 11, 12, 13, 14, 15, 16, 18, 19, 20, 21, 23)
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9. (canceled)
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17. (canceled)
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22. (canceled)
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24. A method for diagnosing a fetal abnormality comprising:
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enriching one or more fetal cells from a maternal blood sample, wherein said sample is applied to a device comprising an array of obstacles on a substrate, analyzing one or more regions of genomic DNA from said fetal cells, and determining a fetal abnormality from the analyzed regions.
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25-46. -46. (canceled)
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47. A method comprising
comparing levels of genomic DNA from a control sample and a mixed sample comprising at least one fetal cell, wherein the control sample comprises a dilution of said mixed maternal blood sample, and determining a fetal abnormality from said comparison
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48-69. -69. (canceled)
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70. A computer program product comprising a computer readable medium having a computer executable logic recorded thereon for enabling a processor to diagnose a fetal abnormality comprising a receiving procedure for receiving data from one of more DNA genomic regions from a mixed sample containing at least one fetal cell,
computer assisted logic for analyzing a fetal abnormality from said received data; - and
an output procedure for generating an output indicating the presence, absence or kind of said fetal abnormality.
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71-92. -92. (canceled)
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93. A method for determining a fetal condition comprising:
comparing the level of polymorphisms of at least two alleles at two or more loci in a control sample and a test sample comprising fetal cells, wherein said test sample is enriched for fetal cells using size-based separation from a maternal blood sample. - View Dependent Claims (99)
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94-98. -98. (canceled)
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100-101. -101. (canceled)
Specification