What is Preimplantation Genetic Testing?

Learn more about building your family with preimplantation genetic testing (PGT).

LEARN ABOUT PGT

Preimplantation Genetic Testing (PGT)

Recently, the Society for Assisted Reproductive Technologies (SART) and the American Society for Reproductive Medicine (ASRM) have changed the recommended terms used to describe the testing of embryos:

A general term which describes the removal of cells from an egg or embryo and subsequent testing. It is subdivided into a few different types:

  • PGT-A: The A stands for aneuploidy. Aneuploid embryos do not have the correct number of chromosomes.
  • PGT-M: The M stands for monogenic, meaning one gene. This is most commonly used when the parents are carriers for a genetic mutation. Testing is done to reduce the chances of a genetic disease in the fetus.
  • PGT-SR: The SR stands for structural rearrangement. Occasionally, parents may have abnormalities in the structure of a chromosome, known as a translocation. Translocations can lead to recurrent miscarriages.
  • Preimplantation genetic diagnosis: This term was used initially to describe any type of embryo testing. Many people still use this term instead of PGT to refer to any type of embryo testing.
  • Preimplantation screening: This was an older method to refer to aneuploidy screening, now referred to as PGT-A.
  • Comprehensive chromosome screening: This term was used in the past when technology allowed the screening of all chromosomes instead of just a smaller number.

About Preimplantation Genetic Testing

Preimplantation genetic testing (PGT) represents a cutting-edge frontier in reproductive medicine, offering prospective parents a way to understand the genetic health of embryos before pregnancy. This advanced procedure is conducted during in vitro fertilization (IVF), where embryos are tested for specific genetic conditions or chromosomal normalcy before being transferred to the uterus.

PGT can be a valuable tool for couples with a history of genetic disorders, recurrent miscarriages, or unsuccessful IVF cycles. It also offers older parents-to-be a higher chance of a healthy pregnancy. However, it's important to discuss the benefits, limitations, and ethical considerations with a fertility specialist. While PGT can increase the likelihood of a successful pregnancy, it does not guarantee it, and not all genetic conditions can be detected. This comprehensive approach aims to enhance the chances of a healthy pregnancy, guiding parents through a journey filled with informed choices and personalized care.

Types of Preimplantation Genetic Testing

Preimplantation Genetic Testing Methods

Once genetic material has been obtained from an embryo there are a number of possible tests that can be performed for the identification of different types of problems.

PGT-A for determination of chromosome number: Also known as aneuploidy testing.

PGT-M for genetic mutations: Many medical problems caused by gene mutations can be identified. This type of testing can also help eliminate cancer from a family.

PGT-SR for structural chromosome abnormalities: Includes testing for translocations, a common cause for miscarriage

PGT-HLA for tissue typing: Revolutionary method for finding transplant matches for sick and dying children.

PGT for Sex Selection: The most accurate and successful method for selecting the sex of a baby -- often referred to as gender selection.

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