Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats

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.

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.