The Foresight™ Carrier Screen includes over 175 inherited conditions. Even if you had time to discuss each condition with your patient prior to screening, doing so would probably overwhelm or confuse her.
Instead of focusing on individual conditions, it can be useful to describe them as falling into four categories. It’s important to clarify that all of the conditions are serious ones that most people would want to know about and plan for, either before or during pregnancy.
Streamline the conversation with these four categories of conditions:
1. Improve with early intervention
Some conditions have standard, recommended treatment that is reasonably accessible to most individuals with the condition. One example is Wilson disease, a treatable condition in which the body retains too much copper. If not diagnosed and treated early, the condition can cause organ failure and death. But with careful treatment and avoidance of copper prior to the first symptom’s appearance, most symptoms can be prevented.
2. Cause intellectual disability
One example is fragile X syndrome, which is the most common form of inherited intellectual disability. It causes a spectrum of developmental and behavioral issues, which tend to be more severe in males. Early intervention with therapy and treatments can minimize symptoms and provide more opportunity for development.
3. Lead to shortened life expectancy
One example 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. Early treatment can ease symptoms and reduce complications.
4. Limited or no treatment options
One example 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. If carrier screening is done prior to pregnancy and if both partners are carriers, your patient has more options such as in vitro fertilization, finding an egg or sperm donor, and adoption.
Carrier screening is one of the many ways you can empower your patients to make informed decisions about their pregnancies. Grouping conditions into these four categories can streamline your conversations and increase patient comprehension.