Abstract: The present invention is concerned with prenatal screening and in particular non-invasive prenatal screening, as well as primers, primer sets and kits. In one instance, the invention provides a method of prenatal screening comprising: (a) amplifying a region encompassing the site of a mutation site responsible for the disorder, the amplification being performed on a DNA sample obtained from a pregnant female which comprises both maternal and fetal DNA; (b) sequencing a plurality of products from the amplification and determining whether or not the mutant allele is represented at a different frequency to that expected from the genotype of the pregnant female alone.

Abstract: The present invention is concerned with prenatal screening and in particular non-invasive prenatal screening, as well as primers, primer sets and kits. In one instance, the invention provides a method of prenatal screening comprising: (a) amplifying a region encompassing the site of a mutation site responsible for the disorder, the amplification being performed on a DNA sample obtained from a pregnant female which comprises both maternal and fetal DNA; (b) sequencing a plurality of products from the amplification and determining whether or not the mutant allele is represented at a different frequency to that expected from the genotype of the pregnant female alone.