Genetic Carrier Screening

A genetic carrier screening is a blood test that is able to check for hundreds of recessive traits hidden in your DNA. These are traits that would never make you sick but if both you and your partner have the same recessive trait, it could impact your child. We call this a fertility adjacent test because it does not relate to someone’s fertility, but it does provide insight for people going into fertility treatments. This is not a test that should cause stress and we recommend it for all patients. It is a way to rule out potential problems, and the chance of there being a problem is small.

There are some conditions, such a cystic fibrosis, that would have a significant impact on a child’s quality of life. If both partners have recessive genes for a condition like this, it would be recommended that they do IVF with preimplantation genetic testing to select an embryo that does not have this condition.

Preimplantation Genetic Testing (PGT)

PGT is a test performed on embryos prior to an embryo transfer. It involves doing a biopsy to remove a few cells from the embryo for evaluation. PGT-A, or PGT for aneuploidy, is the most common test to check if an embryo has the correct number of chromosomes. An embryo with too few or too many chromosomes is not considered genetically normal and in most cases cannot result in a viable pregnancy. This testing provides immensely valuable information about the probability of success after embryo transfer, as each PGT-A tested embryo has a 70% chance of live birth.

PGT-M, or PGT for monogenic/single gene conditions, is a test on embryos that are at risk for certain conditions. If a couple’s genetic screening reveals that both partners are carriers for a certain genetic condition, such as cystic fibrosis, PGT-M can test which embryos are affected. Two parents who are carriers have a 25% chance of having an affected child and this technology can ensure that only unaffected embryos are transferred, cutting the risk down to zero.