Patent ID: 8137912
Filing Date: 2012-03-20
Classification: C12Q,G01N

Abstract:
1. A method for diagnosing the presence or absence of a fetal aneuploidy in a maternal blood sample including fetal and maternal genomic DNA, the method comprising: (a) enriching the maternal blood sample for fetal genomic DNA to produce an enriched sample comprising fetal and maternal genomic DNA; (b) obtaining fetal and maternal genomic DNA from the enriched sample; (c) conducting whole genome amplification of both the fetal and maternal genomic DNA to obtain amplified fetal and amplified maternal genomic DNA molecules; (d) performing ultra-deep sequencing of the amplified fetal and amplified maternal genomic DNA molecules of step (c) to produce partial or complete genome sequences corresponding to the amplified fetal and amplified maternal genomic DNA molecules, wherein the ultra-deep sequencing comprises sequencing at least a million of said amplified fetal and amplified maternal genomic DNA molecules in parallel; and (e) analyzing the genome sequences of the amplified fetal and amplified maternal genomic DNA molecules of step (d) to count chromosomes without performing a single nucleotide polymorphism (SNP) analysis or a short tandem repeat (STR) analysis and thereby determine the presence or absence of said fetal aneuploidy.