What is the screening for recessive diseases?
It is a genetic test that is performed on both partners before pregnancy to check up to 300 recessive genetic diseases.
What is analyzed?
We are all healthy carriers of 5-7 genetic mutations that can cause disease. People carrying these mutations do not develop the disease but if their partner is a carrier of the same disease, there is a chance that the baby will be born with the disease.
These blood tests are used to check for the genetic mutation in each partner and if their combined genetics can lead to disease. The goal is to ascertain the couple’s genetic compatibility and select the most appropriate treatment to avoid risks.
What are the risks if we both carry the same mutation?
If both partners in the couple are carriers of the same genetic mutation (or disease), the chances are 25% of having affected offspring, 25% of having a healthy offspring and 50% of having offspring that carry the disease but are asymptomatic.
What risk of transmitting the disease do I have if I am a carrier of a disease linked to the X chromosome?
If the woman carries a mutation associated with a recessive disease linked to the X chromosome, 25% of her offspring will be affected, 50% of her daughters will be asymptomatic carriers and the other 50% will be healthy. As for male children, 50% will be affected and 50% will be healthy.
When is it recommended?
The screening for recessive diseases is recommended for:
- Couples who want to minimize the risk of having a child affected by a genetic disease.
- Couples in assisted reproduction treatments who need donor eggs or semen (the donor should be tested).
- Couples with a history of kinship within the family.
How and when is it done?
The screening should be performed before starting an assisted reproduction treatment or when the couple plans to have offspring. A Reproclinic genetic counselor will inform you of the results.