As the parent of a child with cystic fibrosis who was diagnosed via newborn screening, I have become an advocate for newborn screening of all kinds. The earlier a parent can find out if their child has a life-threatening condition, the better off the child with be health-wise. Early preventative treatment is the key to living the most healthy life possible with CF. I knew that there could be false positives when testing newborns for CF, but was shocked to hear that 90% of the positives are actually false.
Now that all 50 states are screening newborns for CF, the Cystic Fibrosis Foundation has created a resource for parents facing a positive newborn screen and further testing of their child. I remember those emotional days between finding out our daughter had tested positive and going in for the further testing. They were sure she had it because they had found two CF gene mutations after she tested positive, but I still prayed for it to be a false positive. For most parents, that pray will be answered. Their child will not have CF. But until that is confirmed, they will live in emotional turmoil. The CF Foundation is hoping to ease their minds and answer their questions regarding CF and CF testing to help them through those rough days.
What does a positive NBS mean?
If your child has tested positive for CF via newborn screening, it is more likely that your child does not have CF. A positive result simply means your child might have CF and further diagnostic testing should be done. And if you were screened for a carrier status of CF during your pregnancy and tested negative, your baby could still have CF since there are over 1800 mutations for CF and only the top 90 are tested for initially.
What is CF?
CF is the most common genetic condition in the United States. It causes the respiratory and digestive systems to clog with thick mucus leading to lung-damaging infections, and stopping the pancreas from releasing the enzymes that break down food for absorption. Daily medications and therapies will help your child to live a longer, healthier life. Since the 1960s, the life expectancy has risen from age eight to age 37 and is rising every day.
How do you test for CF? If your baby tested positive for CF through newborn screening she must be taken to an accredited C
F center for a sweat test. During a sweat test, sweat from your baby’s arms or legs will be collected and measured for salt content. A salt content of 0-28 is normal, 29-60 is borderline, and above 60 is considered positive for CF. My child with CF scored 94, while my child without CF scored 10. If your baby tests borderline, an additional sweat test or genetic testing can be done to rule out CF.
For additional information including how to understand test results, what it means to be a carrier of CF, and what to do if your baby does have CF, visit www.cff.org.