Treatment Options

Preimplantation Genetic Testing

What is Preimplantation Genetic Testing (PGT)?

Preimplantation Genetic Testing (PGT) is a technique used in In-Vitro Fertilization (IVF) which allows for the genetic screening of an embryo before transfer. PGT optimizes embryo selection which could provide the best chance of implantation and successful pregnancy.

How does Preimplantation Genetic Testing work?

  • IVF

    The patient will need to undergo an In-Vitro Fertilization (IVF) cycle in order to retrieve the eggs to create embryos.

  • Biopsy

    A biopsy, a procedure to remove a sample of cells or tissue, of the embryos will be done.

  • Analysis

    The cells sampled from the embryos are then cultured and analyzed for genetic abnormalities.

  • Cryopreservation

    The embryos will then be frozen immediately after biopsy for preservation.

  • Results

    Preimplantation Genetic Testing (PGT) results are usually available within 7-10 days.

Types of PGTs

PGT-A

PGT-A, aneuploidy testing, is a genetic testing that evaluates chromosome sets, including gender. This testing can identify if the individual has any extra or missing chromosomes, known as aneuploidy, and can prevent the risk of abnormalities such as Down Syndrome. PGT-A is also known as Preimplantation Genetic Screening (PGS).

PGT-M

PGT-M, or monogenic/single gene  testing, identifies specific single gene defects like cystic fibrosis. It’s typically performed for known carriers or those with a family history of inheritable disorders. Prior to testing embryos, additional family evaluation is required. PGT-M is also called Preimplantation Genetic Diagnosis (PGD).

PGT-SR

PGT-SR, structural rearrangement testing, is a type of genetic testing used when a couple has known chromosomal rearrangements, such as translocations and inversions. PGT-SR can prevent patients from giving birth to a child that may have extra or missing genetic materials, which may have led to pregnancy loss.

Who should consider PGT?

Preimplantation Genetic Testing (PGT) is a valuable tool for those who are facing specific challenges in their fertility journey. These challenges include individuals experiencing recurrent pregnancy loss (RPL), couples navigating the increased reproductive age, those who have experienced repeated implantation failure, such as multiple unsuccessful IVF cycles, and those who have a known family history of genetic/hereditary diseases or disorders.

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