Preimplantation Genetic Testing – Benefits and Risks

Preimplantation genetic testing is a specialized process that can lower the chance of having a kid with a specific genetic or chromosomal disease. PGT is also known as Preimplantation Genetic Screening or Preimplantation Genetic Diagnosis. It is used to identify genetic abnormalities in embryos which are created by assisted reproductive techniques (ART), such as in-vitro fertilization (IVF).

In-vitro fertilization is the process of extracting egg cells from a woman’s ovaries and fertilizing them with sperm cells outside of her body. During preimplantation testing, a limited number of cells from these embryos are collected and analyzed for genetic alterations by a biopsy. Only embryos that are found to be normal are placed in the uterus to begin a pregnancy.

Types of Preimplantation Genetic Testing

Preimplantation genetic testing encompasses three kinds of tests that can be conducted on embryos during IVF:

1- PGT-M:

PGT-M looks for particular gene mutations that are known to exist in one (or both) of the parents. A family history of genetic abnormalities in one or both parents increases the likelihood that a child will be born with a genetic mutation.

A mutation in the DNA sequence causes a disease involving a single specific gene. As a result, diseases like cystic fibrosis, thalassemia, sickle cell anaemia, etc arise as a result of this. It can also result in inherited genetic mutations like the BRCA1 and BRCA2 mutations, which dramatically increase a woman’s risk of breast and ovarian cancer.

Before the embryos are possibly transferred to the woman’s uterus, the fertility doctor will examine them for particular genetic diseases through PGT-M.

2- PGT-A:

PGT-A is a test that examines embryo cells to see if they have the optimum number of chromosomes. An embryo with too few or too many chromosomes might emerge from uneven sperm or egg cell division.

The majority of humans have 46 chromosomes since they inherit 23 from each parent. Aneuploidy occurs when a chromosome is missing or an extra one is present in an embryo or cell. A missing chromosome is known as monosomy, while an additional chromosome is known as trisomy.

3- PGT- SR:

PGT-SR studies embryos from patients who have known chromosomal structural abnormalities, such as a balanced translocation or inversion. Patients with a known structural anomaly are more likely to produce embryos with an alteration of chromosomal material. The embryos that are impacted have a lower chance of resulting in a live birth. Miscarriages are common in patients with these issues.

Benefits of Preimplantation Genetic Testing

Best Embryo Selection:

While dealing with decent embryos and using PGS procedures, we may pick chromosomally normal embryos and rule out those that would be less capable of resulting in the birth of a healthy kid, even though their looks suggest that they are good quality embryos.

Prevents Abnormal Genetic Transmission:

PGT-A looks for chromosomal abnormalities, such as the number and placement of chromosomes, rather than particular illnesses. Your fertility doctor can pick chromosomally normal embryos and rule out those that might hinder a safe delivery by completing PGS/PGT-A on your viable embryos, even if they seem high-quality before tests. PGT-M helps in preventing certain heritable genetic disorders from passing to the child like thalassemia.

Increases the Chance of Pregnancy:

We may prevent transferring embryos that will not result in the birth of a healthy kid since the procedure has ruled them out. As genetic causes are a major cause of first trimester abortions, transferring euploid embryos gives a high chance of a good pregnancy.

Reduces Financial Burden:

The addition of a new analysis to the process might indicate a cost rise. However, because of a thorough understanding of each embryo’s features, embryos that look to be healthy but are not genetically healthy are not frozen and kept. Furthermore, the cost of transferring embryos that will not result in a pregnancy is eliminated.

Helps in Identifying Fertility Treatment Options:

You should expect genetically defective embryos if you have PGS, which means your fertility specialist won’t be able to transfer them to the uterus. As difficult as this is, the doctors will advise you on your best course of action and get you back on track for a successful, healthy conception and pregnancy.

Risks of Preimplantation Genetic Testing

Extra Time and Costs:

PGT adds to the cost of IVF, which is already a lengthy and expensive treatment. The cost of PGS/PGT-A testing varies per fertility clinic, and the precise cost varies from patient to patient. The test takes about 2-3 weeks for analysis and report, hence this can increase the time to transfer, but not necessarily the time to pregnancy.

Invasive Procedure:

Even if the examined embryos are OK, the damage might occur during the biopsy and freezing procedure. The danger of a damaged embryo has been greatly reduced in recent years by doing the biopsy on day five embryos rather than day three embryos. As a result of this recent improvement, PGS is now less likely to have a detrimental influence on your embryo viability.

No Guarantees or Promises:

Remember that playing with genetics is like playing roulette: you can influence the chances, but you can’t predict the outcome. There’s always a chance that the embryos chosen using PGS/PGT-A won’t result in a healthy pregnancy, and other factors such as your fertility clinic have a role. Consult your fertility specialist about the success rates and results of PGS/PGT-A at your clinic.

So here it is- everything you need to know about the benefits and risks of preimplantation genetic testing. If you have any doubts about preimplantation genetic testing, contact Dr. Manish Banker. He can guide you through the whole process while explaining the whole procedure. And if you want to learn more about infertility and its treatments, procedures, and more, visit our website.

Also Read: In Vitro Fertilization- Myths VS Facts