Newborn Screening Program
General Information
New Information and Updates
New Information and Updates
Health Provider Information
Health Provider Information
Contact Us
Contact Us
- Mailing Address:
Newborn Screening Program
New York State Department of Health
Wadsworth Center
Empire State Plaza
P.O. Box 509
Albany, NY 12201-0509 - Phone: (518) 473-7552
- Email: nbsinfo@health.state.ny.us
Your Patient had a Positive CF Newborn Screening Test
In October 2002, New York State added cystic fibrosis (CF) to its Newborn Screening panel. Approximately 1000 newborns are expected to screen positive for CF through this program each year. However, fewer than 5% of babies who screen positive will actually have the condition. Confirmation testing for CF can cause anxiety for patients and families, but particularly for the parents of asymptomatic newborns. Caregivers need to strike a delicate balance by encouraging parents to pursue appropriate follow-up without unduly alarming the family.
How is Newborn Screening for CF Performed?
CF newborn screening is a two-tiered process performed on the standard Guthrie card: 1) analysis of immuno-reactive trypsin (IRT); 2) specimens with IRT levels in the top 5% are tested for a panel of CF-causing gene mutations. When two mutations are identified, it is consistent with a diagnosis of CF and the baby should be referred to an accredited CF Care Center. Over 1000 mutations have been identified in the CF gene, and this screening includes only a fraction of them. Therefore, babies who have one mutation identified, or whose IRT is in the top 0.2% of results without identifiable mutations, are called "screen positive."
Newborn Screening Follow Up
Any baby who has a positive CF newborn screen result should be assessed for symptoms of malabsorption and respiratory problems and referred for a sweat test, even if the parents had prenatal CF carrier testing.
While CF is most common in Caucasians, it is present in all ethnic groups. Sweat testing is a more sensitive test for CF than DNA analysis, especially in non-Caucasians, because of the large number of unidentifiable mutations. CF is inherited, but 80% of newly diagnosed patients do not have a family history of CF.
When informing parents that the results of their baby's CF test indicate the need for follow-up sweat testing, reassure them that most babies who "screen positive" do not actually have the condition. Parents should also be informed if the child was found to have a CF mutation and is a carrier. The brochure, "My Baby Had a Positive CF Newborn Screening Result" , may be helpful to them. Instruct patients not to use any lotions or creams on the baby's skin on the day of the sweat test (including moisturizing soaps). Also, please advise them to bring a blanket and hat to keep the baby warm. Unlike many metabolic conditions identified through newborn screening, a positive CF newborn screen result does not require "urgent and immediate" care. A sweat test can safely be scheduled within a week or two after you receive the results. Some parents may be quite anxious and wish to have the test as soon as possible.
If the sweat test is negative, the baby should continue to receive routine pediatric care.
Why screen for CF?
If the sweat test is positive, the baby should be seen at an accredited CF Specialty Care Center. Studies have shown that babies who are diagnosed with CF through newborn screening will benefit from better nutritional status than babies whose diagnosis is delayed. While there is as yet no cure for CF, symptoms are managed to maintain good nutritional status, slow progression of lung damage and improve quality of life. Over 50% of patients with CF today will survive through their third decade, and many survive decades longer.
CF newborn screening also has implications for the parents' future offspring. Babies who screen positive by IRT and DNA have at least one parent who is a CF carrier. Parents who are informed of their child's carrier status may choose to be tested. If both parents are CF carriers, then future pregnancies are at 1 in 4 risk to have CF. Prenatal diagnosis, serial ultrasound, and other management issues could be considered. A brochure, "My Baby is a CF Carrier: What does it mean for my baby? What does it mean for me?" addresses the issue of carrier testing in more detail. Referral to a local genetic counselor may also be beneficial to the family.
The above information is also available as Adobe Portable Document Format (PDF) file "For Health Care Providers: Your Patient had a Positive CF Newborn Screening Test"
The Adobe Acrobat Reader software is required to view and print the pdf format. [ Adobe Acrobat Reader. ]
For more information, contact the Newborn Screening Program. .
Adapted with permission from the March of Dimes; the Cystic Fibrosis Center, St. Vincent's Hospital, Manhattan; and Wadsworth Center, New York State Department of Health.