Rationale for genetic screening
The goal of pre-pregnancy screening is to let women and couples know if they at increased risk of having a child with a common genetic condition that will have an impact on their child/children. If a carrier status is confirmed then some couples may choose to undergo an invasive diagnostic procedure during pregnancy to determine whether their baby is affected. Being informed about their baby’s positive carrier status may prepare women and couples for the future or in some cases they may make the heart breaking decision to terminate the pregnancy.
Prior to commencing IVF treatment genetic screening also allows women and couples to determine whether they wish to have the embryos screened so that an embryo is transferred without the affected gene; a procedure known aspreimplantation genetic diagnosis (PGD). Others still may choose to utilise donor sperm or find a suitable egg donor.
In pregnancy the test is done so that women are better informed about their pregnancy.