Cystic Fibrosis

Cystic fibrosis (CF) is an inherited condition and affects one in every 2,500 babies born in Scotland. The organs most likely to be affected are the pancreas and the lungs, causing poor digestion and chest infections. Screening for CF involves the bloodspot specimen being tested in two stages. The first stage tests for a substance called immunoreactive trypsinogen (IRT), which is usually present in increased amounts in the blood of babies with CF during their first few weeks of life.

When the IRT is high, deoxyribonucleic acid (DNA) analysis is performed on the same bloodspot sample, to look for the most common genetic mutations associated with CF in the Scottish population. Early treatment may help affected children to maintain good nutrition and minimise chest infections, leading to improved quality of life.

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