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Lung function is abnormal in 3-month-old infants with cystic fibrosis diagnosed by newborn screening

Ah-Fong Hoo1, Lena P Thia, The Thanh Diem Nguyen

  • 1Respiratory Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, UK. a.hoo@ucl.ac.uk

Thorax
|July 4, 2012
PubMed

Insights

Newborn screening for cystic fibrosis (CF) allows early diagnosis, but lung function abnormalities are still present in many infants by 3 months of age, indicating a need for further research into pulmonary health.

Area of Science:

  • Pediatric Pulmonology
  • Newborn Screening
  • Cystic Fibrosis Research

Background:

  • Long-term benefits of newborn screening (NBS) for cystic fibrosis (CF) are known for nutritional status.
  • Pulmonary health effects in infants diagnosed with CF via NBS remain unclear.

Purpose of the Study:

  • To assess lung function in infants with CF diagnosed through NBS at approximately 3 months of age.
  • To compare lung function parameters between infants with CF and healthy controls.

Main Methods:

  • Utilized multiple breath washout (MBW) to measure lung clearance index (LCI) and functional residual capacity (FRC).
  • Employed plethysmography (pleth) for FRC measurements and assessed forced expirations from raised lung volumes.
  • Studied 71 infants with CF and 54 healthy controls around 3 months of age.

Main Results:

  • Infants with CF showed significantly higher LCI and FRC (MBW and pleth) compared to controls.
  • Infants with CF exhibited significantly lower forced expiratory volume (FEV(0.5)) and flows (FEF(25-75)).
  • Abnormalities in lung function were detected in a significant proportion of infants with CF, with combined techniques identifying issues in 35%.

Conclusions:

  • Despite early diagnosis and standardized treatment via NBS, many infants with CF show abnormal lung function by 3 months.
  • Increased ventilation inhomogeneity, hyperinflation, and diminished airway function are evident in this cohort.
  • Findings highlight the need for continued monitoring and potential therapeutic adjustments for pulmonary health in early-diagnosed CF.
Abstract

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