Pilot Study #1

Newborn screening for markers of cystic fibrosis (CF)

What is cystic fibrosis?
Cystic fibrosis is one of the most common of the serious inherited disorders present in children. It can occur in all races. Children who have cystic fibrosis are born with the disorder, but often do not show visible signs of disease for weeks, months, or even years. In this disorder there are abnormal amounts of salt in body secretions, especially in the lungs and pancreas. In some people, the signs appear mainly in the lungs. in other people, the signs are mainly in the digestive system. In the lungs, airways become blocked and have too many bacteria. This leads to chronic infections, lung damage and death from lung failure. In the pancreas, when ducts are blocked there is a loss of digestive enzymes in the bowel. This leads to severe malnutrition. Medical treatment can include replacing digestive enzymes right away and use of antibiotics, and careful monitoring. This may improve growth and the long-term outcome in these patients.

What is the chance that my baby will have cystic fibrosis?
In Massachusetts, approximately 1 of every 3,000 babies has cystic fibrosis.

What is the pilot program going to study?
This study will focus on developing the best screening test for the early detection of newborns with cystic fibrosis. No additional blood will be taken from your baby. There will be a testing system like the one in Wisconsin, where pilot testing began. If your baby is screened, your baby's blood specimen will first be tested for a protein from the pancreas called IRT. If the test shows that your baby's IRT level is higher than normal, your baby's specimen will then be tested for a DNA marker that is associated with cystic fibrosis. If that DNA marker is found in your baby's specimen, the Newborn Screening Program will contact your baby's doctor about the result. Your baby's doctor would then contact you, and work with you to arrange for your baby to be seen by a Cystic Fibrosis specialist. This specialist will do a test to find out if your baby actually has cystic fibrosis.

Will the Massachusetts system of testing be exactly like the one in Wisconsin?
No. We know from national and Massachusetts information that is gathered by the Cystic Fibrosis Foundation, that the test used in Wisconsin would miss a very high number of Massachusetts babies who have cystic fibrosis. The Massachusetts testing plan will look for more DNA markers. While the Wisconsin test works for Wisconsin, Massachusetts needs a test that is sensitive to the racial and ethnic diversity of the Massachusetts population.

Will all babies who participate in the study be tested for DNA markers of cystic fibrosis?
No. We expect one in twenty babies will be tested for DNA markers of cystic fibrosis.

Will all babies who participate in the study need to be seen by a Cystic Fibrosis specialist?
No. If your baby participates in the study, the chance that your baby would be referred to a cystic fibrosis specialist is about 0.3%, or 3 in 1,000.

If my baby is referred to a Cystic Fibrosis specialist, does that mean that my baby has cystic fibrosis?
Not necessarily. For every 10 or 12 babies whose result indicates the need for referral to a cystic fibrosis specialist, only one of those babies will actually have cystic fibrosis.

If my baby is one of the babies who needs to be seen by a Cystic Fibrosis specialist, where would I find the specialist?
Your baby's doctor would help you. Cystic fibrosis specialists are located at the five Cystic Fibrosis Centers in Massachusetts. These centers are certified by the Cystic Fibrosis Foundation to provide a full range of diagnostic, clinical and follow-up services. The 5 Massachusetts CF Centers are located across the state: three in Boston, one in Worcester, and one in Springfield. The New England Newborn Screening Program is working with all of these Centers to make sure that their services will be known to all families who need them.

Why are you asking me for a decision? Doesn't my baby's doctor know?
There is good reason to believe that the program can work (testing is accurate) and that the program is worthwhile (benefits of early intervention outweigh the risks). However, before newborn screening for CF becomes routine, the Advisory Committee wants to study how the program will work best in Massachusetts. As a parent, you are being asked to decide whether you want to participate in this "pilot study". We expect that most parents will want their baby to have this test, but we understand that some parents might have personal reasons for not taking part in the pilot study. Because of this, the choice is being offered to you, rather than to your doctor or healthcare provider.

Additional information on cystic fibrosis is available by clicking here.