Agilent Technologies, Inc.
Method and system for estimating a gender of a foetus of a pregnant female

Abstract:

A method for estimating a gender of a foetus of a pregnant female, said method comprising measuring allele presences (D.sub.X) for a first plurality of genetic markers of the X-chromosome and allele presences (DR) for a second plurality of genetic markers of at least one reference chromosome, different from the X and Y chromosome, in a sample of cell-free DNA from a pregnant female; based on said measured allele presences for said first plurality, determining a first fraction thereof which is associated with purely homozygous genetic markers; based on said measured allele presences for said second plurality, determining a second fraction thereof which is associated with purely homozygous genetic markers; and estimating a gender of said foetus based on said first and second fraction.