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 screen for cystic fibrosis (CF).
Alternative NamesCystic fibrosis screening - neonatal; Immunoreactive trypsinogen; IRT test
How the test is performedA 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 testThere is no special preparation needed.
Some states include this test in the routine newborn screening tests that are done before the baby leaves the hospital.
If you live in a state that does not perform routine CF screening, your health care provider will explain whether testing is needed.
How the test will feelThe brief feeling of discomfort will probably cause your baby to cry.
Why the test is performedChildren with CF who are diagnosed early in life and start treatment at a young age may have better nutrition, growth, and lung function. Newborn screening tests allow doctors to identify children with CF before they have symptoms.
Normal ValuesNormal values vary from lab to lab. Ask your doctor or testing center for details.
What abnormal results meanIt is important to remember that a positive screening test for cystic fibrosis does not diagnose cystic fibrosis. If your child's test is positive, further tests will be done to confirm the possibility of CF. Not all children with a positive screening IRT test have CF.
What the risks areRisks associated with the test include:
The IRT level does not indicate the severity of the CF. False-positives may occur.
ReferencesFarrell PM, Rosenstein BJ, White TB, et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic fibrosis consensus report. Journal of Pediatrics. Aug 2008;153(2).
David Cardy has written: 'Neonatal screening for cystic fibrosis'
Joseph P. Fenerty has written: 'Costs and benefits of prenatal screening for cystic fibrosis' -- subject(s): Prenatal diagnosis, Cystic fibrosis
What is cystic fibrosis? Cystic fibrosis is a life threatening disease.
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Is a carrier of cystic fibrosis
Yes, girls can get cystic fibrosis.
The term that best describes the inheritance of cystic fibrosis is that it is genetic. Cystic fibrosis is caused by recessive alleles. Cystic fibrosis is an autosomal recessive genetic disease.
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No. Cystic fibrosis is a genetic disease.
No. Cystic fibrosis is a genetic disease.
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No, there is currently no cure for cystic fibrosis.