Carrier screening test
Assisted Reproduction:
What is the carrier screening test?
This is a genetic test that analyses the DNA of two people, usually a couple planning to have children, to detect whether they are carriers of recessive genetic mutations associated with inherited diseases. Even if these people do not have the disease, they can pass it on to their children if they are both carriers of the same mutation.
Why is it important to perform carrier screening?
The carrier screening test provides valuable information for informed reproductive decision-making. It enables couples:
- Knowing your risk of passing on genetic diseases to your children: If both partners carry the same mutation, the risk of their offspring having it is 25%.
- Consider reproductive options: In case of carrying a genetic disease, couples can opt for assisted reproductive techniques such as in vitro fertilisation with genetic screening (IVF-PGS) to prevent the transmission of the mutation to their children.
- Planning their family future: The information obtained from the test can help couples make decisions about the number of children they wish to have, adoption or even more specific prenatal genetic testing.
What diseases can be detected with the carrier screening test?
El panel de enfermedades genéticas que se analiza en el test puede variar según la clínica o laboratorio que lo realice. Sin embargo, generalmente incluye enfermedades como:
- Cystic fibrosis.
- Spinal muscular atrophy.
- Thalassaemia.
- Tay-Sachs disease.
- Sensorineural deafness.
- Duchenne muscular dystrophy.
How is the carrier screening test performed?
The test is performed by a simple blood sample from each partner. The sample is analysed in a genetic laboratory for the presence of mutations in the specific genes selected. Test results are usually available within 2-4 weeks.
In which cases is carrier screening recommended?
Carrier screening is particularly recommended in the following cases:
- Couples with a family history of genetic diseases.
- People of ethnic origin with a higher prevalence of certain genetic diseases.
- Couples who have had previous pregnancies with genetic abnormalities.
- Women who wish to become pregnant later in life.
At the Malavé Institute, we have a team of highly qualified specialists in reproductive genetics and genetic counselling to offer our patients the best care and personalised advice in carrying out the carrier screening test.
If you are planning to have children and are concerned about the possibility of passing on genetic diseases to your offspring, do not hesitate to contact us for more information about carrier screening.
