DIAGNOSING FETAL CHROMOSOMAL ANEUPLOIDY USING MASSIVELY PARALLEL GENOMIC SEQUENCING

摘要

Embodiments of the present invention provide methods, systems and apparatus for determining whether a fetal chromosomal aneuploidy is present from a biological sample obtained from a pregnant woman. Nucleic acid molecules in the biological sample are sequenced such that a portion of the genome is sequenced. The respective amounts of clinically relevant chromosomes and background chromosomes are determined from the results of sequencing. A parameter (eg, ratio) derived from this quantity is compared to one or more cutoff values to determine whether a fetal chromosomal aneuploidy is present.