Preimplantation Genetic Testing going on at the clinic.

Preimplantation Genetic Testing (PGT)

What is Preimplantation Genetic Testing?

Preimplantation genetic testing is a complex technique in which an embryo is tested for a specific known genetic condition or a chromosome variation. This form of testing allows only genetically healthy embryos, or those not affected by specific genetic conditions, to be selected for transfer into the IVF cycle. All of this in turn maximizes the chances of a healthy baby. 
There are many variations of preimplantation genetic testing PGT. Some of the most common ones are as follows:

  • PGT-A: Preimplantation genetic testing for aneuploidy is a test that is designed to ensure that the embryo has the right number of chromosomes.
  • PGT-M: This test is also known as PGT for single gene testing or monogenetic preimplantation genetic testing. As its name states, it is done to test the embryo for a single gene that can cause long-term ill effects. Therefore, it is ideal for testing inherited diseases.
  • PGT-SR: This is a test done to verify if there are any rearrangements in the structure of the chromosomes. This is typically done when a parent has a modified chromosome structure, which may lead to missing or excess genetic material in an embryo. 

Who is PGT Suitable For?

Although just about anyone can do the preimplantation genetic testing treatment in Nepal, this testing is ideal for specific patients. Some of the types of patients for whom preimplantation genetic testing PGT is highly suitable are as follows:

  • If you are a couple where either one or both of you are carriers of single gene mutations that you want to avoid.
  • When either you or your partner has a chromosome rearrangement, also known as translocation. This can result in chromosomal variations in the eggs or sperm that can lead to either miscarriage or health problems in a child.
  • If you or your partner has a previous pregnancy that has been affected by chromosomal variation.
  • If you, your partner, or both of you are above the age of 38.
  • If you have had a recurring occurrence of miscarriage
  • If there have been repeated IVF failures where five or more embryos have been transferred without pregnancy. 

What Does PGT Involve?

In the process of preimplantation genetic testing, you or your partner go through a standard IVF cycle. Then, a few cells are removed from each embryo and tested in two ways. This testing is conducted while the embryos are developing in the preimplantation genetic testing IVF laboratory. 

The two ways on how the embryos are tested are as follows:

Chromosome Testing (Next generation sequencing)

This technique tests a complete set of 24 chromosomes in an embryo to enable the selection and transfer of healthy embryos. 

Karyomapping

This process is used if you and/or your partner carry one or more serious single-gene disorders. This process can identify the embryos that are not affected by the specific disorder. This, in turn, prevents the conditions from being passed on to the next generation. 

What Can be Tested by PGT?

As its name implies, preimplantation genetic testing can be used to test disorders and diseases associated with genetics. This testing includes testing for diseases that may lead to abnormal babies, issues with successful birth, or miscarriage. Furthermore, with the current technology, PGT treatment in Nepal can identify over 20,000 genetic mutations that can cause the mentioned problems. 

What Cannot be Tested by PGT?

The core focus of this testing is based on genes. Therefore, this testing cannot identify diseases and problems not associated with genes. 

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What is The Chromosomal Variation?

Chromosomal variation refers to changes in or differences in the structure or the number of chromosomes from the normal chromosome set. Normally, every cell in an embryo should have 46 chromosomes arranged in 23 pairs if there are any missing or extra chromosomes. This is called "aneuploidy," and it includes conditions such as Down syndrome. 

This form of disorder can affect up to 70% of the early human embryos, leading them to stop developing. 

Can You Use PGT to Test for Chromosomal Translocation?

Yes, it can. A chromosomal translocation is a genetic condition in which one or more pieces of chromosomes are exchanged or linked. 

It should be noted that only 2% of people with reproductive problems have balanced translocation. This condition is where a chromosome is rearranged, but there is an overall correct amount of genetic material. Therefore, the person is completely healthy. 

In this situation, some eggs or sperm can have the wrong amount of genetic material. It further leads to the embryo having an unbalanced translocation. These embryos have a high chance of miscarriage. Even if the child is born, they have a high chance of having severe health problems. 

Therefore, PGT can detect the case of a balanced translocation or any form of chromosomal translocation Next Generation Sequencing. 

Can You Use PGT for Gender Selection?

You can use PGT to determine the exact genetic error that causes gender-associated disease. However, using PGT specifically for gender selection is not allowed. 

Does PGT Harm the Embryo?

No, preimplantation genetic testing (PGT) does not harm or damage the embryo when done correctly. Although during the PGT testing in Nepal, the experts remove some cells from the outer layer of the embryo, it does not cause any harm to the embryo. 

What Are The Benefits and Risks of PGT?

Just like with any other medical procedure, the PGT treatment in Nepal has its share of benefits and risks. Some of the preimplantation genetic testing pros and cons are as follows:

Benefits of PGT Testing

  • Improves IVF success rates
  • Reduces the risk of miscarriage
  • Allows for single embryo transfer and reduces the risk of multiple pregnancy
  • Avoids passing on inherited genetic conditions to the child
  • Can detect some causes of recurrent pregnancy loss

Preimplantation Genetic Testing Risks 

  • The survivor risk of embryos after the blastocyst stage for biopsy is not 100%
  • There is a small risk of damage to the embryo
  • The testing can sometimes give false positive or false negative data
  • There is a limit to the number of genetic disorders that this treatment can detect (it will improve with the growth of technology)
  • The transfer will not be possible if there are no unaffected embryos
  • Additional costs

What is IVF With Genetic Testing Success Rates?

The specifics of IVF with genetic testing success rates will vary depending on your circumstances. However, in general, this procedure has been shown to increase the rates by 10% to 15% compared to IVF alone. 

What is the cost of PGT treatment in Nepal?

The specific cost of PGT treatment in Nepal will vary depending on the number of embryos. That said, the cost on average is NPR 30,000 per embryo in Nepal. 

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FAQs on PGT Testing in Nepal

What are the risks of Preimplantation Genetic Testing?

Some of the risks of preimplantation genetic testing include embryo loss, false results, and multiple pregnancies. 

Is Preimplantation Genetic Testing worth it?

Yes, preimplantation genetic testing is worth the cost and effort if you or your partner has some genetic disorders that can be passed through the genes. Furthermore, it is also ideal for detecting any forms of disorders in the genes of the embryo, ensuring a safe and healthy childbirth. 

Who can benefit from PGT?

There are many categories of couples who can benefit from PGT. Some of these include the following:

  • Couples with a known genetic disorder want to avoid passing it on.
  • Couples with a history of miscarriage or failed IVF due to chromosomal abnormalities.
  • Older women and couples with infertility issues to improve IVF success.
  • Fertility preservation patients want to screen for abnormalities.

How much does preimplantation genetic testing (PGT) cost in Nepal?

The specific cost of PGT in Nepal varies depending on the number of embryos. The average cost is NPR 30,000 per embryo in Nepal

Who needs preimplantation genetic testing?

PGT is generally recommended for those with:

  • Known inherited genetic disorders
  • History of miscarriages or failed IVF cycles
  • Severe male factor infertility
  • Recurrent failed implantation of embryos
  • Previous child with a chromosomal disorder
  • Advanced maternal age (over 35)

How is preimplantation genetic diagnosis done?

PGT involves the process of ovarian stimulation, egg retrieval, fertilization, and embryo culture to the blastocyst stage. At days 5-6, several trophectoderm cells are biopsied from embryos. Cells are then analyzed using FISH, PCR, microarray, or NGS to detect chromosomal abnormalities and/or genetic mutations. Then, the unaffected embryos can be selected for transfer or freezing.