If you are thinking about becoming pregnant, you may wish to consider undergoing genetic carrier screening. This is a simple procedure that can provide valuable insight into you and your partner's health and give you a solid understanding of how your baby could be affected if you are a carrier of any genetic diseases. If you or your partner are a carrier, you have a gene that's involved in the development of one or more genetic illnesses, but you do not have the illness yourself. Establishing if you have a carrier gene allows your doctor to explain the likelihood of that gene being passed on to a child and if or how the child's health could be impacted as a result.
Genetic carrier screening can be carried out with a blood or saliva sample, and it's most effective in helping you plan for having a child when both partners are screened. Here's an overview of three genetic health conditions that can be detected before you become pregnant:
Cystic fibrosis occurs when there's a mutation of the gene that controls fluids and salt at a cellular level. When this gene is faulty, thick mucus will build up in your body and cause blockages in the ducts of your organs, particularly your lungs. Cystic fibrosis makes breathing difficult and leaves you more prone to developing certain infections. The goal of treatment for this condition is to keep your airways open by thinning the mucus and reducing secondary inflammation.
Sickle Cell Disease
Sickle cell disease is caused by a gene mutation that changes the shape and lifespan of your red blood cells. This can lead to blocked blood vessels, anaemia, chronic pain, delayed growth and an increased risk of stroke. The condition can be cured with a bone marrow transplant, but only a small number of transplants are carried out annually, and most people with sickle cell disease will not be matched with a donor. So, the focus tends to be on managing the symptoms associated with the condition by taking prescription pain relief and having blood transfusions to tackle anaemia.
Fragile X Syndrome
Fragile X syndrome occurs when a gene on the X chromosome does not function properly and stops enough of a specific protein being produced. This protein plays a vital role in nerve cell communication, and when there's too little of it, abnormal brain development can occur. Fragile X syndrome can cause delayed language development, seizures, anxiety, self-destructive behaviour and hyperactivity. Although there's no cure for this condition, it can be treated with medication to manage behavioural symptoms and seizures. Additionally, a child with this condition may need support from their school in the form of one-to-one tutoring to ensure they keep up with their peers.
These are just a few carrier screening tests that can be undertaken before making the decision to have a baby. Your doctor will be happy to explain the full range in detail should you be interested in scheduling a genetic screening appointment.Share