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Bronchiectasis in an asymptomatic infant with cystic fibrosis diagnosed following newborn screening

Lauren S Mott1, Catherine L Gangell, Conor P Murray

  • 1Division of Clinical Sciences, Telethon Institute for Child Health Research and Centre for Child Health Research, University of Western Australia, PO Box 855, West Perth, WA, 6872, Australia.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
|May 19, 2009
PubMed

Insights

Newborn screening for cystic fibrosis (CF) identified an infant with Pseudomonas aeruginosa infection and bronchiectasis at 3 months. Early detection via newborn screening can reveal lung disease even in asymptomatic infants.

Area of Science:

  • Pediatrics
  • Pulmonology
  • Medical Diagnostics

Background:

  • Newborn screening for cystic fibrosis (CF) is widely implemented to enable early diagnosis and intervention.
  • Most infants diagnosed with CF via newborn screening are clinically asymptomatic regarding respiratory symptoms at diagnosis.

Observation:

  • Computed tomography (CT) scans have revealed subclinical structural lung disease in asymptomatic infants with CF.
  • This case highlights an infant diagnosed with CF through newborn screening.

Findings:

  • The infant presented with endobronchial infection by Pseudomonas aeruginosa.
  • Radiological evidence of bronchiectasis was detected at 3 months of age, despite the infant being asymptomatic.

Implications:

  • Early detection of structural lung disease and infection in CF is possible even in asymptomatic infants identified through newborn screening.
  • This underscores the importance of follow-up imaging and microbiological surveillance in infants diagnosed with CF via newborn screening.
  • Findings suggest potential for earlier therapeutic strategies to prevent progressive lung damage in cystic fibrosis.

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