Do I Need Carrier Screening If My Family Does Not Have A History Of Inherited Conditions?Updated 18 hours ago

Yes, carrier screening can still be important even if your family has no known history of inherited conditions. Many people carry genetic variants without realizing it, because having just one copy of a mutation usually causes no symptoms.

In fact, over 80 percent of children with inherited conditions are born to parents who were not aware they were carriers. Conditions like Sickle Cell Disease and Cystic Fibrosis often appear with no family history for this reason. Most inherited conditions follow autosomal recessive inheritance, meaning both parents must pass on the variant for a child to be affected. If two carriers of the same condition have children together, there is a 1 in 4 chance that each child will inherit the condition.

While each condition is rare on its own, collectively there is at least a 1 in 3 chance that you are a carrier for at least one condition screened. This risk is higher than the chance of having a child with Down syndrome. Knowing your carrier status before or during pregnancy allows you and your healthcare provider to explore options early.

With Circle Family Planning, we test for over 155 heritable genetic conditions and provide genetic counseling to help you and your partner understand results and possible next steps.

(1) Sickle Cell Disease is an inherited blood disorder which affects a major component of red blood cells, haemoglobin, and results in red blood cells having a stiff crescent shape resembling a sickle. The sickled blood cells die prematurely, causing a person to feel weak and tired. These sickled cells can also get stuck in small blood vessels, blocking blood flow and causing serious medical complications such as tissue deterioration.

(2) Cystic Fibrosis is a severe condition that can affect different parts of the body such as the lungs, bowel, pancreas etc. This disease is caused by a gene called CFTR. When CFTR does not function well due to genetic mutation, mucus can become thick and sticky clogging passages such as breathing airways and bowel. Healthy mucus is needed for clearing germs and with thick mucus, germs can get trapped. This can cause frequent lung infections and death in childhood or early adulthood.