Helping families through a positive CF newborn screen
Ohio has been screening for cystic fibrosis (CF) with its Newborn Screening Program since 2006. Approximately 500 newborns screen positive for CF through this program each year. Although fewer than 10 percent of babies who screen positive actually have CF, that initial result is stressful for families.
As the child’s primary care provider, you are in a unique position to guide parents through the next steps of the diagnostic process in a way that can keep them from feeling overwhelmed. Here are some ways you can help them prepare:
- Upon receiving the positive screen for CF, contact the family to update them on the results. Let them know the CF newborn screen coordinator at Cincinnati Children’s will be calling them in the next few days to talk about next steps. If the family prefers, they can call 513-636-6771 and ask to speak to the CF newborn screen coordinator instead of waiting to be contacted.
- When calling parents with results of their baby’s CF screen, explain the need for follow-up sweat-testing and reassure them that most babies who "screen positive" do not actually have CF. See the Cincinnati Children’s Cystic Fibrosis Center’s website at cincinnatichildrens.org/newborn-CFscreen-hcp for a video tutorial and tips for having this discussion.
- A sweat test will be scheduled once the baby is a month old. The CF newborn screen coordinator at Cincinnati Children’s will contact the family and arrange the test as well as genetic counseling.The family does not need to schedule a visit with a pulmonologist at this point.
- Sweat-test results will be called to your office the day of the test. Parents will be notified of the result by the genetic counselor at Cincinnati Children’s.
- Many parents want to know what symptoms they could see if their baby has CF. Most commonly, babies with CF have difficulty growing or need to consume extra calories to grow. They can also show signs of malabsorption of fat protein from the breast milk or formula. There would be steatorrhea (fatty stools), or frequent, large, foul-smelling stools.
- Reviewing this information with the family may be overwhelming. Here are some tips and tricks for discussing screening results with parents and families:
- Do not call families on Fridays. This can lead to unnecessary stress and anxiety for the family as they have to wait until Monday to get scheduled for the sweat test. However, if the baby has two mutations and shows signs of CF, please call the Cincinnati Children's CF Center as soon as possible (513-636-6771).
- Families have told us they want accurate information, emotional support, and steps for what to expect next.
For more information on the process and steps of newborn screening and sweat-testing, please see the Cincinnati Children’s Cystic Fibrosis Center’s website: cincinnatichildrens.org/newborn-CFscreen-hcp.
