Preimplantation genetic testing (PGT) is used in in vitro fertilization (IVF) to check embryos for genetic or chromosomal issues before transfer. Testing helps identify embryos with the best chance of resulting in a healthy pregnancy and reduces the risk of miscarriage.
There are two main types of PGT offered to Carolina Conceptions patients:
PGT-A (Aneuploidy): Screens embryos for having the correct number of chromosomes
PGT-M (Mutation): Tests for specific genetically inherited conditions
PGT-SR (Structural Rearrangements): Screens embryos for their chromosomes being arranged correctly and not translocated or inverted
For patients who choose not to undergo additional genetic or embryonic testing, our team can still make expert decisions about which embryos are of the highest quality and have the greatest potential for implantation. Your physician can help you decide if PGT is right for you.
Note: PGT-A was formerly known as Preimplantation Genetic Screening (PGS). PGT-M was formerly known as Preimplantation Genetic Diagnosis (PGD).
PGT-A checks that embryos have 46 chromosomes in the correct balance. Too many or too few chromosomes (aneuploidy) often leads to failed implantation, miscarriage, or certain genetic conditions.
On day 5 or 6 of embryo growth, a few cells are safely removed.
The embryos are frozen while the cells are tested with advanced genetic sequencing.
After about two weeks, your provider will review the results with you and select the healthy embryos for transfer
PGT-M screens embryos to see if they carry any specific inherited conditions, using the genes of the parents to decide what conditions to search for. Some disorders that we often screen for include cystic fibrosis, sickle cell disease, Huntington’s disease, muscular dystrophy, and BRCA-related cancers.
The biological parents will give a blood sample to see if they have, or are a genetic carrier for any genetic disorders.
On day 5 or 6 of embryo growth, a few cells are safely removed. If PGT-A is also performed, both tests will use the same biopsy sample.
The embryos are frozen while the cells are tested with advanced genetic sequencing. The conditions screened for will be informed by the blood sample results given by the parents.
While PGT-A checks that embryos have 46 chromosomes in the correct balance, there may still be chromosomal defects if those 46 are not in the correct balance or placement. PGT-SR screens for these abnormalities like deletion, insertion, inversion, or translocation, which can cause a variety of syndromes and disorders.
On day 5 or 6 of embryo growth, a few cells are safely removed.
The embryos are frozen while the cells are tested with advanced genetic sequencing.
After about two weeks, your provider will review the results with you and select the healthy embryos for transfer
Read our blog for more information about infertility, IVF and more.