Does assisted reproduction help prevent genetic diseases?

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If we have the technical and legal opportunity to prevent the appearance of diseases in future children, making this opportunity available to parents is a priority in each assisted reproduction treatment .

Below we will explain the different options available to minimize the risk of having children with hereditary genetic diseases.

Below you have an index with all the points that we will discuss in this article.

Index

How to reduce the transmission of diseases?

According to the World Health Organization (WHO), the risk of a naturally conceived child (without assisted reproductive treatments) having a hereditary genetic disease at birth is 1/1000.

Therefore, in a natural reproductive process, 1 of every 1000 children born can suffer this type of diseases.

Through assisted reproduction it is possible to reduce the risk of offspring inheriting these diseases. Next we will see what options there are in each case, depending on whether they are own or donated gametes.

In this article, when we talk about hereditary genetic diseases, we refer to recessive monogenic diseases linked to the X chromosome.

Treatments with own gametes

In the case of treatments performed with the gametes of the couple, that is, with their own sperm and eggs, the ideal is to carry out what is known as genetic matching.

What is genetic matching?

Genetic matching consists of analyzing the genetic mutations with the highest risk of causing a disease in the offspring of a couple. It is made from a blood sample of each of the two.

Once the mutations of both are analyzed (what is known as the carrier test), the results are compared to find the mutations that coincide in both, since these are the ones that make a high probability that the future baby have a genetic disease

Thanks to the genetic matching, we can prevent the appearance of more than 300 hereditary genetic diseases. In this way, the possibility that a baby suffers one of these diseases drops to 1 / 100,000, that is, 1 born affection for every 100,000 children born.

Risk of transmission of genetic diseases

It is advisable to perform this analysis to minimize the risk that the offspring suffer from any of these preventable diseases.

If there are no coincidences in the mutations present, there is no significant risk of such diseases in the future baby, so the reproductive process is safe.

What to do if a mutation matches?

In the event that some mutation is present in both members of the couple and, therefore, there is a risk of transmitting the disease to the offspring, we have two options to avoid suffering it:

  • Analyze embryos through a pre-implantation genetic diagnosis (PGD) and transfer only those who will not suffer the disease.
  • Use one of the gametes of a donor free of the mutation, either the egg or the sperm. In this way, the mutation will no longer coincide and the offspring will not have the disease.
Preimplantation genetic diagnosis (PGD)

Treatments with donated gametes

When starting a treatment with donor semen or ovules, it is very important to know if the donors have been studied through the carrier test that we have explained. Some examples of these treatments are:

  • In vitro fertilization (IVF) with donor sperm
  • IVF with ovodonation (ovodon)
  • IVF with sperm and donor eggs

In the event that this is the case and that you wish to carry out the genetic matching to avoid the transmission of diseases, only the member of the couple that will provide the gametes (ovum or sperm) must perform the analysis.

In addition, in the case of not performing genetic matching, donors are never assigned to be carriers of the main hereditary genetic diseases by severity and frequency of their appearance.

We believe that assisted reproduction, little by little, will contribute to reduce the appearance of genetic diseases, each time in a simpler and more affordable way.

We make a great editorial effort. Sharing this article helps us and motivates us to continue our work.

87
egg donor in Cordoba(Spain)

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