Method for determining the proportion of fetal cell-free DNA in a maternal sample in an egg donation pregnancy and method for detecting fetal aneuploidy

摘要

The present invention provides methods for determining a statistical likelihood of the presence or absence of a fetal aneuploidy in a maternal sample from a pregnant female with an egg donor pregnancy using a determined percent fetal cell-free DNA in the sample, whereby the fetal fraction is determined using egg-donor informative loci wherin the mother is heterozygous and the fetus homozygous or vice versa or the mother is homozygous for one allele and the fetus homozygous for the other allele.