Diagnosis of fetal aneuploidy by quantification of genomic dna from mixed samples

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.