Should I Do Preimplantation Genetic Testing?

Preimplantation genetic testing (PGT) is one of the most important breakthroughs in the history of reproductive medicine, allowing our physicians and laboratory team to identify genetic or chromosomal defects in an embryo prior to being used in an IVF cycle. These genetic testing technologies have been shown to increase success rates, reduce miscarriage, prevent passing on inherited conditions, and reduce the total time it takes to achieve a healthy live birth. There are a couple kinds of PGT and many, if not most, Boston IVF patients now elect to do some form of genetic testing for their embryos.     

Preimplantation genetic testing for aneuploidy (PGT-A) is a way of looking for major abnormalities in number across all 23 pairs of an embryo’s chromosomes. These kinds of major chromosomal abnormalities result in no pregnancy, miscarriage, birth defects, or cognitive impairment, so this test helps provide information about the overall health and quality of an embryo. You might choose PGT-A  if you're close to or over the age of forty, have had multiple unsuccessful IVF cycles, or have experienced recurrent miscarriages.

Preimplantation genetic testing for monogenic disorders (PGT-M) looks for a specific single gene mutation in embryos. While PGT-M is not necessary for all patients, it is an invaluable service for those who are carriers of a genetic disorder, because it can ensure that the embryo selected for transfer will not be affected by that disorder. You might decide to do PGT-M testing if you or your partner have a family history of genetic disorders such as cystic fibrosis, Fragile-X syndrome, spinal muscular atrophy, or more than 250 others.

Preimplantation genetic testing happens via a biopsy of several cells from an embryo created with IVF as it is growing in the lab. Having PGT done on your embryos does not require any additional steps for you. One thing to be aware of is that PGT is not always covered by insurance, so if you are considering doing it, you should talk to your insurer and understand what the out-of-pocket costs might be.