What is a genetic compatibility test and why do we use it in assisted reproduction?

We are all carriers of different genetic alterations or mutations. This doesn’t mean we necessarily have to suffer from any disease, but we must keep in mind that, under certain circumstances, we could pass these diseases on to our children.

Genetic compatibility tests are specifically designed to solve these problems. We’ll explain what these tests detect and how they can help you.

What does a genetic compatibility test do?

The fundamental objective of a genetic compatibility test is to ensure that any potential mutations we carry are not passed on to our offspring, causing a serious illness. In other words, it is to verify that both partners do not have the same mutation in the same gene.

Currently, there are more than 7,000 genetic diseases, which are responsible for one in every hundred births suffering from these conditions. We all carry an average of five to ten serious mutations in our genes, which we can pass on to our offspring.

These tests examine more than 20,000 mutations in both partners to determine that they do not carry mutations in the same genes, which would pose a high risk to their future child. These compatibility tests are called genetic compatibility studies, or “genetic matching.”

What happens if the genetic compatibility test is positive?

An asymptomatic carrier is a person who has a mutated gene without showing symptoms of the disease. Most of these are recessive or sex-linked diseases.

For these diseases to be passed on to your children, both you and your partner must be carriers of the same mutated gene. Therefore, if you are trying to conceive, it is highly advisable to get tested.

Most people only realize they are carriers after having a child with a genetic disorder, or through genetic techniques like this one, which allow carrier detection.

What happens if you and your partner are carriers of a genetic disease?

Being a carrier of these mutations does not necessarily mean that they will have the disease, but there is a possibility that their children could suffer from it if your partner also carries mutations in the same gene. In this case, the probability of having an affected child would be 25%.

In this case, if both parents carry mutations in the same genes, techniques could be used to minimize the risk of transmitting a disease to your child, such as Preimplantation Genetic Diagnosis (PGD), one of the assisted reproduction treatments we use at URE Centro Gutenberg.

What is Preimplantation Genetic Diagnosis (PGD)?

PGD is a prenatal study performed on an embryo before embryo transfer after in vitro fertilization treatment. It involves genetically examining its cells to determine if it carries any chromosomal or genetic alterations, and selecting only healthy embryos for transfer to the uterus.

This technique requires in vitro fertilization (IVF) treatment and subsequent genetic testing of the embryos obtained, ensuring that only healthy embryos are transferred to the woman—that is, embryos without any genetic diseases.

What are the benefits of genetic compatibility testing?

As we have discussed, the main advantage of these compatibility tests is that they allow us to prevent the transmission of many genetic diseases to our offspring.

More specifically, genetic compatibility tests allow us to:

Understand the medical aspects of diseases, including diagnosis, possible causes, and current medical management.
Differentiate how heredity can contribute to the disease and the risk of transmission to family members.
Know the options for addressing the risk of transmission.
Choose the most appropriate course of action based on the risk.
Adapt as best as possible to the disease and the risk of transmitting it.

Who is a genetic compatibility test indicated for?

These carrier tests are indicated for any woman or couple planning a pregnancy, but they can especially benefit:

Patients in IVF programs.
People with a family history of a genetic or reproductive disorder.
People who want additional information about the risks of transmitting genetic diseases to their offspring.
One of the main features and benefits of these compatibility tests is that if IVF with donated gametes is recommended, patients have the opportunity to compare their genetic profile with that of the egg donor and/or sperm donor, undergoing a genetic compatibility study with the donor.

For example: a woman undergoing IVF treatment with donor eggs will be assigned a donor who is genetically compatible with her husband, so that the donor and the recipient’s husband do not share mutations in the same genes. In this way, we greatly minimize the chances of a child being born with a serious genetic problem.

How are genetic compatibility tests performed?
These tests are very simple to perform, as only a blood sample is required for the study.

Once the test has been performed,