Genetic compatibility analysis: Genetic Matching

Genetic compatibility analysis: Genetic Matching

The genetic compatibility test is a test that allows us to identify the presence of genes that cause diseases and thus prevent them from being transmitted to future children. This test is performed with a simple blood extraction between the members of the couple or if a donor intervenes, between the donor and the member of the couple that provides the egg or the sperm.

In this genetic analysis, up to 600 diseases linked to a specific mutation can be studied simultaneously. This study includes from serious prevalent diseases to rare diseases that occur in 1 out of every 100,000 births. Genetic diseases can not be cured but we can prevent them with studies of this type.

Can I transmit a disease without suffering it? What are recessive diseases?

We all have mutations in our genetic material and we can all be carriers of a recessive disease that will never manifest itself and that we do not know about. The problem comes when, by chance, your partner is the carrier of that same disease.

Recessive diseases are those in which to have this disease it is necessary that each of the parents give the future child a copy of the mutated gene. The carriers of recessive diseases are completely healthy but when we put together two people carrying the same mutated gene there is a 25% chance of having a child with this disease. These diseases are rare (1% of newborns) but are usually serious and without treatment.

How is the test performed?

The test is performed very simply, for the patient involves a simple blood draw. After this, it is taken to the genetics laboratory and the study of the mutations of both biological progenitors is carried out. Once we have th

e results of both are compared, “genetic matching is done” which consists of verifying if they are carriers of the same recessive disease or not. What happens if we are not genetically compatible? When the result of the test detects that both members of the couple are carriers of the same disease, the solution is found in Assisted Reproduction Techniques. In these cases an in vitro fertilization cycle is carried out and when we have the embryos we will study them at the genetic level with a preimplantation genetic diagnosis (PGD). This way we make sure to only transfer to the woman those embryos that are healthy. If the test is done with donors and there is no compatibility, we will look for a different donor and thus avoid the transmission of the disease of which they are carriers.

With this test do I completely eliminate the risk of having a child with a medical condition?
This test greatly reduces the chances of having a child with a medical condition but is never 100% eliminated. There is always the possibility that a new mutation appears in the child or that a disease is transmitted from those not studied in the gene panel.

Although the risk does not disappear, if it is significantly reduced:

When should this test be done?

– Any couple that wants to conceive a child naturally and wants to know the risk of transmitting certain diseases to their offspring.

– Patients with a family history of a genetic disease.

– Patients who have a family relationship or who belong to a very closed ethnic group

– Patients who are going to undergo assisted reproduction treatments and want to reduce the risk of having a sick child.

– Patients who are going to undergo treatment with donor sperm or donated ovules in order to select the ideal donor and reduce the risk of having an affected child. In this case the analysis will be made to the donor and to the member of the couple that contributes their gamete (ovum or sperm).

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