TFC is here to explain the different types of genetic testing
Genetic testing has given us an incredible gift – the power to prevent the transfer of inheritable genetic diseases to our children. It also lessens a woman’s risk of miscarriage, as it significantly increases the likelihood that fertility specialists will transfer genetically normal embryos into a woman’s uterus. Unfortunately, similarities in nomenclature between the different types of testing can lead to patient confusion. Our Austin fertility doctors are here to break down the basics between preimplantation genetic screening (PGS), and preimplantation genetic diagnosis (PGD).
PGS and PGD serve two different purposes
Our Austin fertility center offers both PGS and PGD to give you the best chance to have a healthy baby. Both of these tests take place in the embryology lab, once the embryo has reached the blastocyst development stage during an in vitro fertilization (IVF) cycle. However, PGS and PGD are distinct forms of genetic testing that serve two different purposes.
- PGS is a technique that allows embryologists and geneticists to look at the chromosomes in each embryo. This form of screening can determine whether an embryo has too many or too few chromosomes (aneuploidy), or whether part of a chromosome has broken off and reattached on another chromosomes (translocation). Examples of these disorders include Down’s syndrome (characterized by the presence of an extra chromosome #21) or Turner’s syndrome (characterized by a missing sex chromosome).
- PGD is a form of chromosomal testing that allows embryologists and geneticists to distinguish between embryos that are normal and those which carry a specific inheritable genetic disorder such as cystic fibrosis (CF) or spinal muscular atrophy (SMA). Fertility specialists use this information to determine which embryos to transfer into the woman’s uterus.
Genetic testing can be help in multiple situations
Several groups of patients can benefit from genetic testing. Our Austin fertility center may recommend PGS if you have experienced recurrent miscarriages or repeated IVF failures, or if you are of advanced maternal age. If you or your partner carry or have an inheritable genetic disorder, our fertility specialists will suggest PGD as a way to avoid passing that disease on to your children.
Genetic testing can help you have the family of your dreams. If you would like to learn more about PGS, PGD or any other type of genetic testing, please contact us today to schedule a consultation with one of our caring and knowledgeable fertility specialists.