Carrier Screening

What types of conditions are included in carrier screening?

You should discuss the exact panel you will be screened for with your healthcare provider. The types of conditions included in carrier screening can be grouped broadly into four different categories:

Conditions that improve with early intervention

Some conditions have standard, recommended treatment that is reasonably accessible to most affected individuals. An example of this type of condition is Wilson disease, a treatable condition in which the body retains too much copper. If not diagnosed and treated early, the condition causes organ failure and death. But with careful treatment and avoidance of copper prior to the first symptom’s appearance, most symptoms can be prevented.

Conditions that cause intellectual disability

An example of this type of condition is fragile X syndrome, which is the most common form of inherited intellectual disability. It causes a spectrum of developmental and behavioral problems, which tend to be more severe in males.

Conditions that lead to shortened life expectancy

An example of this type of condition is cystic fibrosis (also known as CF), which is characterized by the production of abnormally thick, sticky mucus that clogs various organ systems in the body, particularly the lungs and digestive system. This results in a shortened life expectancy of ~40 years.

Conditions with limited or no treatment options

An example of this type of condition is Tay-Sachs disease, which causes brain and other nerve cells to die leading to severe neurological problems. Infantile Tay-Sachs disease, the most common form, usually causes death by the age of four.

The conditions included in carrier screening are serious conditions most people would want to know about either before conceiving or while pregnant so that they can plan and prepare.