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Infant blood sample
Infant blood sample

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 Values:

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.



What the risks are:

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


Special 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: A.D.A.M. Editorial. Previously reviewed by John Goldenring, M.D., MPH, Department of Pediatrics, Children's Hospital, San Diego, CA. Review provided by VeriMed Healthcare Network.

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