Carrier Screening

What is genetic carrier screening?

Genetic carrier screening is a test to find out if individuals carry certain genetic disorders.

 

It can test for up to hundreds of genetic conditions, including common conditions like Cystic Fibrosis, Fragile X, Duchenne Muscular Dystrophy and Alpha Thalassemia. It only requires a small blood sample and results are returned in about 3 weeks. 

 

Anyone can opt for a carrier screening before or during pregnancy, although individuals with a known family history of genetic diseases may be at a higher risk.

 

Why is it important?

Many individuals are carriers of one or more recessive genetic conditions. While they do not necessarily suffer from the disease, the gene lies dormant in their body and can be inherited by their children, who in turn have a higher risk of being affected by the disease (1 in 4) if both parents are carriers of the same genetic disorder. Symptoms may not be exhibited until the later stages of childhood, delaying treatment and medical attention.

 

What to do if you are at risk?

Certain measures can be taken for couples planning to conceive but are at risk of their child being affected by a genetic disease:

 

At Thomson Fertility Centre, we offer couples the option of a carrier screening before starting fertility treatments, which will help them make more informed reproductive decisions.