Patent ID: 9051602
Filing Date: 2015-06-09
Classification: C12Q

Abstract:
1. A method of obtaining and analyzing a fetal genome from a mixture of maternal and fetal cells, comprising: a) obtaining a maternal blood sample comprising a mixture of maternal and fetal cells; b) enriching said sample from step a) for said fetal cells, wherein fetal cells in the mixture of maternal and fetal cells are enriched to between 1 in 100 and 1 in 100,000 fetal cells per maternal cells; c) dividing said enriched sample from step b) into at least about 1,000 subsamples, wherein each subsample has an average of less than one cell; d) performing whole genome amplification on each at least about 1,000 subsamples from step c) to provide an amplified product for each subsample, wherein each amplified product has an amplified genome from an average of about one cell, and wherein at least 99% of the amplified genomes in said amplified product are not from a fetal cell; e) dividing each of said amplified product from step d) into aliquots, wherein each aliquot contains at least one copy of said amplified genome from said cell, and wherein at least 99% of the amplified genomes in said aliquots are not from a fetal cell; f) screening or genotyping an aliquot from step e) for the presence of a fetal identifier, wherein said screening or genotyping comprises: g) identifying the presence of a fetal cell in at least one subsample from step c) whose aliquot contains an informative paternal allele from step f) iv); and h) analyzing another aliquot from step e) from said at least one subsample from step g) identified as containing fetal cell to detect a genetic variation in said genome of said fetal cell.