What is Preimplantation Genetic Testing?

Preimplantation Genetic Testing is an advanced genetic test performed on embryos created through in vitro fertilisation (IVF/ ICSI ) before they are implanted into the uterus. PGT helps identify genetic abnormalities or chromosomal abnormalities in embryos, allowing for the selection of healthy embryos with a higher chance of successful pregnancy and reducing the risk of miscarriage. 

Related: When Can Couples Opt for  IVF / ICSI 

There are three main types of PGT:

PGT-A (Preimplantation Genetic Testing for Aneuploidy): PGT-A screens embryos for chromosomal abnormalities, such as extra or missing chromosomes (known as aneuploidy). Aneuploidy can lead to implantation failure, miscarriages, or the birth of a child with chromosomal disorders like Down syndrome. By identifying chromosomally normal embryos, PGT-A increases the chances of a successful pregnancy and reduces the risk of certain genetic conditions.

Related: The Impact of Age on Fertility: What You Need to Know

PGT-M (Preimplantation Genetic Testing for Monogenic Disorders):

PGT-M is used to identify specific genetic mutations or disorders that are known to run in a family. Couples who carry a genetic disease or are at risk of passing on a genetic condition to their offspring can undergo PGT-M. The embryos created through IVF are tested to determine if they carry the genetic mutation, and only unaffected embryos are selected for implantation.


Related: Factors Affecting Fertility in Today’s World

PGT-SR (Preimplantation Genetic Testing for Structural Rearrangements):

PGT-SR is performed for couples who have structural rearrangements of their chromosomes, such as translocations or inversions. These rearrangements can lead to an increased risk of miscarriages, infertility, or the birth of a child with chromosomal abnormalities. PGT-SR helps identify embryos with balanced chromosome arrangements, increasing the chances of successful implantation and reducing the risk of genetic disorders.

The PGT process involves obtaining a small number of cells from the embryos which are then sent for genetic analysis. Once the results are available, the embryos free from genetic abnormalities or mutations can be selected for transfer into the uterus. 

It is important to note that PGT is an optional procedure and is typically recommended for couples with a known genetic condition, advanced maternal age, recurrent pregnancy loss, or previous unsuccessful IVF attempts. PGT can increase the chances of a successful pregnancy and reduce the risk of passing on genetic diseases to the next generation. 

Remember, each individual’s fertility journey is unique, and the options available will vary depending on your specific circumstances. It is crucial to have open and honest communication with your doctor. With perseverance, support, and professional guidance, you can navigate this challenging experience and make informed decisions regarding your next steps towards building your family.

If you want to know more about PGT, you can seek help from Fertility Specialist

Dr Ila Gupta
Director & Sr. Consultant Ferticity IVF & Fertility Clinics