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Newborn Screening ACT Sheet

[Elevated IRT +/- DNA]
Cystic Fibrosis

Differential Diagnosis: Cystic fibrosis (CF); gastrointestinal abnormalities are also causes of increased IRT.

Condition Description: The cystic fibrosis transmembrane conductance regulator (CFTR) protein regulates chloride transport that is important for function of lungs, upper respiratory tract, pancreas, liver, sweat glands, and genitourinary tract. CF affects multiple body systems and is associated with progressive damage to respiratory and digestive systems.

YOU SHOULD TAKE THE FOLLOWING ACTIONS:

  • Contact family to inform them of the newborn screening result and to ascertain clinical status (meconium ileus, failure to thrive, recurrent cough, wheezing and chronic abdominal pain).
  • Contact CF Center for consultation with CF specialist.
  • Determine sweat chloride (sweat test) through experienced sweat test laboratory.
  • If cystic fibrosis is confirmed, clinical evaluation and genetic counseling are indicated.
  • Report findings to newborn screening program.


Diagnostic Evaluation:

Varies with screening test. Infants with highly elevated immunoreactive trypsinogen (IRT) may be considered screen positive. Elevated IRT results are followed with second tier tests for either additional IRT measurement or CFTR mutation panels. If screen positive, follow up with sweat chloride test to confirm diagnosis.

Clinical Considerations:

Deficient chloride transport in lungs causes production of abnormally thick mucous leading to airway obstruction, neutrophil dominated inflammation and recurrent and progressive pulmonary infections. Pancreatic insufficiency found in 80 – 90% of cases. Some males may be infertile in adulthood.

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