Patent ID: 8168389
Filing Date: 2012-05-01
Classification: B01L,C12Q,G01N,Y10T

Abstract:
1. A method for performing prenatal diagnosis of a fetal aneuploidy in a blood sample from a human suspected of being pregnant, who is pregnant, or who has been pregnant, the method comprising: obtaining a mixture of fetal and maternal cells from a blood sample obtained from a human suspected of being pregnant, who is pregnant, or who has been pregnant; enriching the mixture of cells for fetal cells to obtain a mixed cell preparation enriched for fetal cells; distributing the enriched mixed cell population into individual reaction samples at discrete addressable locations such that a portion of the reaction samples contain single fetal cells; identifying reaction samples containing a single fetal cell; obtaining nucleic acids from the single fetal cells; sequencing the nucleic acids to produce partial or complete genome sequences; based on the sequences, quantifying DNA regions from a chromosome suspected of being aneuploid in the fetus; and determining the presence or absence of a fetal aneuploidy from the quantitation of the chromosomal DNA regions.