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Preimplantation Genetic Testing

PGT

What is PGT?

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 (Preimplantation Genetic Testing for Aneuploidy)

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.

How It Works

  • 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

Why PGT-A Helps

  • Aneuploidy can happen at any age, but it’s more common in women over 35, so testing is highly recommended for this demographic
  • PGT-A increases the chance of pregnancy per transfer while also resulting in lower miscarriage rates
  • In 2022, our pregnancy success rate with PGT-A was 67%

PGT-M (Preimplantation Genetic Testing for Mutations)

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.

How It Works

  • 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.

  • After about two weeks, your provider will review the results with you and select the healthy embryos for transfer

 

Why PGT-M Helps

  •  PGT-M allows us to select embryos free of specific mutations, reducing the risk of passing on serious genetic diseases
  • PGT-M is especially helpful for those who have a family history of genetic disorders 

PGT-SR (Preimplantation Genetic Testing for Structural Rearrangments)

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.

How It Works

  • 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

Why PGT-SR Helps

  •  PGT-SR allows us to select embryos free of specific structural abnormalities, reducing the risk of miscarriage and an unhealthy pregnancy
  • PGT-SR is typically recommended for those with a diagnosed chromosome rearrangement, a family history or history of pregnancies with chromosomal rearrangements, or those experiencing recurrent miscarriages (this is a common symptom of chromosomal rearrangements)

Did You Know?

Preimplantation genetic testing can help us improve your chance of pregnancy, especially for women over 35

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