Carrier Screening can help determine if someone is a carrier of a genetic condition that can be passed on to their future child. Because of the impact this information may have on a baby’s health, professional guidelines recommend genetic carrier screening for women who plan on becoming or are currently pregnant.
Sema4 is committed to helping these women understand, through carrier screening, their risk for passing on a genetic disease and, by using our Pregnancy Journey resource, the changes they and their developing baby may go through during pregnancy.
Kim S.* recently discussed her pregnancy experience to enable others to understand the importance of carrier screening and how Sema4 provides a supportive experience.
Leveraging Sema4 Elements Expanded Carrier Screening and Genetic Counseling
Having faced some challenges becoming pregnant, Kim and her husband were very happy to learn that they were finally going to have a child. As part of Kim’s prenatal care, her doctor recommended a Sema4 Elements Expanded Carrier Screening panel based on her age of 35+, her chronic hypertension, and the fact this was her first pregnancy. Kim had a simple blood draw and within approximately two weeks she received an alert that her results were ready in the Sema4 Patient Portal.
Kim met with a Sema4 Genetic Counselor (GC) to review her results. Given that English is not her native language and many U.S. medical terms are unfamiliar to her, Kim had a lot of questions around carrier screening in general, in addition to specific questions around her results. She was concerned that her questions were too basic, but the GC she met with made her feel very comfortable. “The GC was very kind in explaining everything to me and happily addressed every question I had,” Kim said.
During her counseling session, Kim learned she had tested positive for Zellweger Syndrome. This genetic condition can impact brain, liver, and kidney function and affect a child’s ability to eat or move. It is a condition for which there is no treatment or cure. At the recommendation of her care team, Kim’s husband underwent expanded carrier screening to see if he was also a carrier for Zellweger Syndrome. If he was, the chance of them having an affected child would markedly increase. Fortunately, he tested negative. As first-time parents-to-be, receiving their carrier screening results helped relieve their anxiety.
Benefiting from Sema4 Pregnancy Journey resource
In addition to undergoing expanded carrier screening, Kim also relied on Pregnancy Journey, Sema4’s interactive educational pregnancy resource that helps guide patients through having a happy and healthy pregnancy. In addition, the tool gives users the option to integrate their health data to track vitals over the course of pregnancy.
“I liked that Pregnancy Journey told me how big my baby is on a weekly basis and what symptoms I might be experiencing. The symptoms section was my favorite part because it could be scary if you have a headache or edema while pregnant, so knowing it’s typical for certain stages of pregnancy was comforting.” In addition, Kim found the pictures and content clear and easy to understand, making it her preferred pregnancy tool. “The biggest advantage as a foreigner is that it helped me know how to explain to my doctor what symptoms I was experiencing at my check-ins.”
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For more information on Sema4 Elements Expanded Carrier Screen solution, please visit sema4.com/carrierscreen. For more information on the Pregnancy Journey resource, please visit sema4.com/womens-health/pregnancy-journey.
*Per Kim’s request, we have changed her name to protect her identity.