Non-invasive method to determine the genetic sequence of foetal DNA from a sample from a pregnant female thereby detecting any alternation in gene sequence as compared with the wild type sequence

摘要

Disclosed is a method useful for detection of genetic disorders. The method comprises determining the sequence of alleles of a locus of interest, and quantitating a ratio for the alleles at the locus of interest, wherein the ratio indicates the presence or absence of a chromosomal abnormality. Also disclosed are non-invasive methods for the detection of chromosomal abnormalities in a fetus. This is especially useful as a non-invasive method for determining the sequence of fetal DNA.