What is the recessive diseases screening ?

It is a genetic test performed on both members of a couple before pregnancy to analyze more than 300 recessive genetic diseases.

What is analyzed?

All humans are carriers (non-affected) of 5-7 genetic mutations for recessive diseases. Recessive diseases require two affected copies of the same gene for clinical symptoms. Being a carrier of these diseases may have no impact unless both partners are carriers of the same disease.

The test consists of blood tests, through which possible genetic mutations of certain recessive diseases are detected. The results of each partner are studied, and their combination is analyzed. The goal is to understand the couple’s genetic compatibility and select the most appropriate treatment to avoid risks.

What risks could we face if both are carriers of the same mutation?

If both members of the couple are carriers of the same genetic mutation (or disease), there is a 25% risk of having an affected child, a 25% chance of having a healthy child, and a 50% chance of having a child who is an asymptomatic carrier of the disease.

What risk of transmitting the disease do I have if I am a carrier of an X-linked disease?

If the woman is a carrier of a mutation corresponding to a recessive X-linked disease, there is a 25% chance of having an affected child. Fifty percent of daughters will be asymptomatic carriers, and the other 50% will be healthy. For male children, 50% will be affected, and 50% will be healthy.

When is it indicated?

Recessive disease screening is recommended for:

• All couples who wish to minimize the risk of having a child affected by a recessive genetic disease.
• Couples with a family history of consanguinity.

How and when is it done?

It is recommended to undergo the study before starting assisted reproduction treatment or when the couple is considering having children.