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Dried-blood spot screening for cystic fibrosis in the newborn

J R Crossley, R B Elliott, P A Smith

    Lancet (London, England)
    |March 3, 1979
    PubMed

    Insights

    Serum-immunoreactive-trypsin (IRT) is elevated in infants with cystic fibrosis (CF). A new dried blood-spot assay for IRT shows promise as a newborn screening test for CF.

    Area of Science:

    • Biochemistry
    • Pediatrics
    • Genetics

    Background:

    • Cystic Fibrosis (CF) is a genetic disorder affecting multiple organs.
    • Early diagnosis of CF is crucial for timely intervention and improved outcomes.
    • Serum-immunoreactive-trypsin (IRT) is a biomarker associated with pancreatic dysfunction in CF.

    Purpose of the Study:

    • To measure serum-immunoreactive-trypsin (IRT) levels in children diagnosed with cystic fibrosis (CF).
    • To evaluate the potential of a dried blood-spot assay for IRT as a newborn screening tool for CF.

    Main Methods:

    • Serum samples were collected from children with CF and control groups.
    • Immunoreactive-trypsin (IRT) levels were quantified in serum.
    • A novel assay using dried blood spots for IRT measurement was developed and validated.

    Main Results:

    • All infants diagnosed with CF exhibited elevated serum-IRT levels within the first few months of life.
    • The established dried blood-spot assay demonstrated feasibility for IRT measurement.
    • The assay showed potential for widespread application in newborn screening programs.

    Conclusions:

    • Elevated serum-IRT is a consistent finding in early infancy for children with CF.
    • A dried blood-spot IRT assay is a viable method for newborn screening.
    • This assay could facilitate early detection and management of cystic fibrosis.

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