PGT | Preimplantation Genetic Testing

In this section, we explore what PGT or preimplantation genetic testing is, and why it matters to you if you are planning to start an IVF cycle.

What is PGT or Preimplantation Genetic Testing?

PGT or Preimplantation Genetic Testing is the broad term for a variety of tests that are performed for the purpose of screening and preventing genetic or chromosomal disorders in your future baby, such as Down syndrome or thalassemia.

PGT is performed on embryos during an IVF (in-vitro fertilization) cycle. Embryos are eggs (from the female partner) that have successfully been fertilized with sperm (from the male partner).

Besides preventing genetic or chromosomal disorders, PGT may also help certain couples to increase their chances of getting pregnant via IVF. This topic will be covered further when we share more about PGT-A which is a type of preimplantation genetic testing.

When is PGT done?

PGT is performed before a woman gets pregnant, during the midpoint of an IVF cycle. This test is carried out on embryos, in a highly specialized laboratory setting. It allows your fertility doctors and embryologists to ensure that your future baby would be free from specific genetic or chromosomal disorders that you are looking to prevent.

PGT can only be performed on your embryos once they have developed and matured into blastocysts. In simplified terms, blastocysts are basically embryos that have developed for 5 - 6 days upon fertilization.

Tests such as noninvasive prenatal testing (NIPT) are not considered as PGT, as they are usually done after a woman is 10 - 12 weeks pregnant.

Can PGT be done without undergoing IVF?

The short answer is no. The reason for this is that in order for PGT to be carried out, we need to have the embryos extracted out into a laboratory-based setting.

Currently, the most established method to do so is by undergoing IVF, which involves extracting mature eggs out of the ovaries and fertilizing them with sperm outside the womb.

Why is PGT done?

The main reason why PGT is done is to increase the chances of you conceiving a healthy baby, free from genetic and chromosomal disorders such as:

  • Down Syndrome
  • Klinefelter Syndrome
  • Turner Syndrome
  • Thalassemia (Alpha and Beta)
  • Cystic Fibrosis
  • Hemophilia (A and B)
  • And many more

Not all couples undergoing IVF would require PGT. However, studies have shown that certain preimplantation genetic tests, such as the ones that screen against aneuploidy (PGT-A) can also help to increase the IVF success rates in specific demographics of couples.

There are two main types of PGT being carried out in most fertility clinics today. Click on the links below to learn more:

Chromosome 1

PGT-A (Preimplantation Genetic Testing for Aneuploidies)

Screens against chromosomal disorders such as Down syndrome and Klinefelter syndrome. Also helps increase implantation rates in specific demographics of couples.

Chromosome 2

PGT-M (Preimplantation Genetic Testing for Monogenic Diseases)

Screens against genetic or inherited disorders such as thalassemia, and hemophilia, and many more. Usually only required if both parents have been diagnosed with the genetic disorders.

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