IP Library › Patent Application 12413485
Patent Application
App. No. 12/413,485

DIAGNOSIS OF FETAL ABNORMALITIES USING POLYMORPHISMS INCLUDING SHORT TANDEM REPEATS

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Quick Facts
Patent No.
US None
App. No.
12/413,485
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.

Claims (5)

1 . A method for diagnosing a fetal abnormality comprising:

obtaining a maternal blood sample,

enriching one or more fetal cells from said 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.