Rare Cell Analysis Using Sample Splitting And DNA Tags

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, e.g. aneuploidy. The present invention involves labeling regions of genomic DNA in each cell in said mixed sample with different labels wherein each label is specific to each cell and quantifying the labeled regions of genomic DNA from each cell in the mixed sample. More particularly the invention involves quantifying labeled DNA polymorphisms from each cell in the mixed sample.

1 .- 54 . (canceled) 
     
     
         55 . A method for fetal diagnosis, the method comprising:
 labeling one or more genomic DNA regions in fetal and non-fetal cells, enriched from a maternal blood sample, using labels adapted to distinguish between individual cells; and   determining the presence or absence of a fetal abnormality by analyzing the labeled genomic DNA regions by mass spectrometry.