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Neonatal cystic fibrosis screening

Definition

Neonatal cystic fibrosis screening is a blood test that looks for increased levels of immunoreactive trypsinogen (IRT), an enzyme produced by the pancreas. The test is performed on newborns to diagnose cystic fibrosis (CF).

Alternative Names

Cystic fibrosis screening - neonatal; Immunoreactive trypsinogen; IRT test 

How the Test is Performed

A sample of blood is either taken from the bottom of the baby's foot of a vein in the arm. A tiny drop of blood is collected onto a piece of filter paper and allowed to dry. The dried blood sample is sent to a lab for analysis.

How to Prepare for the Test

Your health care provider will explain the test to you, and you must sign a consent form before the test. Some states, but not all, include this test in the newborn screening exams that are done before the mother and baby leave the hospital. 

How the Test Will Feel

The brief feeling of discomfort will probably cause your baby to cry.

Why the Test is Performed

Infants who have CF may have increased levels of IRT in their blood for several months after birth. A positive IRT test requires follow up testing to confirm the diagnosis.

Normal Results

The predicted value of a normal or negative test is an immunoreactive trypsinogen value less than 140 ng/dL.

Note: ng/dL = nanograms per deciliter

What Abnormal Results Mean

If your child's level of immunoreactive trypsinogen is greater than 140 ng/dL on the first screen, the test result is considered positive. If your child's level is 120 ng/dL on the second screen, the second test result is also considered positive.

Although these two test results indicate CF may exist, a sweat test with a positive result is necessary to confirm the diagnosis.

Risks

Risks associated with the test include:

  • Infection (a slight risk any time the skin is broken)
  • Parental anxiety over false positive tests
  • False reassurance over false negative tests

Considerations

The IRT level does not indicate the severity of the CF. False-positives may occur.

References

Gross, SD, Boyle, CA, Botkin, JR, et al. Newborn Screening for Cystic Fibrosis:Evaluation of Benefits and Risks and Recommendations for State Newborn Screening Programs. MMWR. 2004;53(RR13);1-36.

Review Date: 5/16/2005
Reviewed By: John Goldenring, M.D., MPH, Department of Pediatrics, Children's Hospital, San Diego, CA. Review provided by VeriMed Healthcare Network.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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