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Bronchoscopy in cystic fibrosis infants diagnosed by newborn screening

Patrick Stafler1, Jane C Davies, Ian M Balfour-Lynn

  • 1Department of Paediatric Respiratory Medicine, Royal Brompton Hospital, London, UK.

Pediatric Pulmonology
|March 3, 2011
PubMed

Insights

Newborn screening for cystic fibrosis (CF) identifies infants who benefit from early invasive surveillance. Bronchoalveolar lavage (BAL) and pH monitoring reveal significant findings in asymptomatic infants, supporting early intervention strategies.

Area of Science:

  • Pediatric Pulmonology
  • Neonatal Screening
  • Genetic Disorders

Background:

  • Early functional and structural changes occur in infants with cystic fibrosis (CF) diagnosed via newborn screening (NBS).
  • NBS allows for early identification of CF, enabling timely intervention.

Purpose of the Study:

  • To assess the diagnostic yield of bronchoalveolar lavage (BAL) microbiology and cytology.
  • To evaluate the utility of 24-hour pH monitoring in infants with CF diagnosed by NBS.

Main Methods:

  • 33 infants diagnosed with CF via NBS underwent surveillance fiber-optic bronchoscopy (FOB).
  • Procedures included BAL for microbiology and cytology analysis, and 24-hour dual pH probe monitoring under general anesthesia.

Main Results:

  • Bacterial organisms were identified in 27% of infants, with most being asymptomatic.
  • Neutrophilia was present in 67% of cases.
  • Abnormal pH monitoring (index >12%) was observed in 42% of infants.

Conclusions:

  • Invasive surveillance, including BAL and pH monitoring, is justified in NBS-diagnosed CF infants due to high diagnostic yield.
  • Further longitudinal studies are needed to confirm if early, aggressive treatment improves outcomes.
Abstract

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