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The Cystic Fibrosis Center of Chicago
 
 


   

 
 
   
   
CF Testing for Newborns
   
                                 WHAT EXACTLY IS CYSTIC FIBROSIS?

   
Cystic Fibrosis is a disease that causes the body to make mucus that is thicker
    and stickier than normal.
The mucus causes problems with the lungs and the
    digestive system including:

        - Lung infections
        - Breathing difficulty
        - Problems digesting fat and proteins

        -
Poor nutrition and growth

                       MY BABY TESTED POSITIVE FOR CF. NOW WHAT?

   
Most babies with a positive newborn screen for cystic fibrosis will not have the
    disease. However, additional testing and consultation with a CF specialist is
    needed. A diagnostic procedure called a “sweat test” will determine if an infant
    has cystic fibrosis.

                                         WHAT IS A SWEAT TEST?

   
The sweat test measures the amount of salt that is in a baby’s sweat. People with
    CF have higher amounts of salt in their sweat. While the sweat test is very reliable,
    sometimes it has to be repeated.


                           WHAT HAPPENS DURING A SWEAT TEST?

   
The sweat test takes about an hour. It is painless. Before the test, a technician will
    place a liquid chemical on a small part of the arm or leg. This will make the skin
    sweat. Then, an electrode is attached to gently stimulate the sweat glands to make
    sweat. The sweat is then collected with special gauze paper or a coil tube and
    analyzed in the lab. Preliminary results may be available soon after the test is
    done. Final results will come back later in the day. All tests are reviewed by a CF
    specialist.

                          WHAT HAPPENS AFTER THE SWEAT TEST?

   
A genetic counselor reviews sweat test results with the parents of a newborn being
    tested. Parents will also have the option of meeting with a physician specializing in
    cystic fibrosis care within 24 hours to discuss any medical issues.

                         WHERE CAN I GET THE SWEAT TEST DONE?

   
It is strongly recommended that CF specialists with extensive expertise in sweat
    testing arrange for the procedure. The Cystic Fibrosis Center of Chicago utilizes
    several hospitals who follow strict guidelines on how to perform sweat tests. St.
    Alexius Medical Center, Evanston Hospital, and several other hospitals in the
    Chicagoland area can perform this test. In addition to the sweat test, The Cystic
    Fibrosis Center of Chicago strongly suggests that you meet with a genetic
    counselor and if needed, a physician who specializes in CF.

                  WHAT HAPPENS IF MY CHILD HAS CYSTIC FIBROSIS?

   
If the sweat test is positive, your child has CF. Additional testing will need to be
    performed including blood sampling to determine which gene caused the CF. This
    test is important and may help determine how severe the disease will be. It will also
    be helpful for testing of siblings and parents for counseling purposes. The Cystic
    Fibrosis Center of Chicago will be available 7 days a week to meet with you upon
    diagnosis. We will discuss treatments and help initiate a medical care plan.

                          WHAT HAPPENS IF MY CHILD IS A CARRIER?

   
A positive CF newborn screen may reflect no CF, the carrier state, or having CF. 
    Careful interpretation of the screen and sweat test results by a genetic counselor or
    CF physician will be needed. Carrier testing and a thorough history will be needed to
    answer any questions.

    A genetic counselor will discuss carrier testing for parents and other family
    members. This carrier testing will help determine if one or both parents are carriers
    for CF. If both parents are carriers for CF:

    There is a 1 in 4 (25%) chance their child will have cystic fibrosis.
    There is a 2 in 4 (50%) chance their child will be a carrier.
    There is a 1 in 4 (25%) chance their child will not have cystic fibrosis and will not
    be a carrier.
  
 
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