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

  • Researchers

    Hoo AF, Thia LP, Nguyen TT, Bush A, Chudleigh J, Lum S, Ahmed D, Lynn IB, Carr SB, Chavasse RJ, Costeloe KL, Price J, Shankar A, Wallis C, Wyatt HA, Wade A, Stocks J

  • Place of research

    Great Ormond Street Hospital for Children, London, UK

  • Publication

    Thorax / October 2012

  • Subjects

    , ,

  • Is lung function abnormal by 3 months of age in infants with Cystic Fibrosis (CF) diagnosed through newborn screening (NBS)?

  • Why is this important?

    Newborn screening for CF was introduced across the UK in 2007, providing a much needed opportunity for early interventions to minimise progression of lung disease. However until we understand when the first signs of lung disease appear in NBS CF infants treated with the best routine treatment, it is difficult to design suitable clinical trials to see if new treatments are more effective.

  • What did you do?

    Between January 2009 and December 2011, we invited all families with a child diagnosed with CF through NBS who presented at one of six hospitals participating in the London CF Collaboration to take part in an observational study of lung function. Lung function was measured at Great Ormond Street Hospital; UCL Institute of Child Health at around 3 months of age in the 71 CF infants who were recruited (80% of those eligible). We also measured lung function in 54 healthy infants for comparison.

  • What did you find?

    When compared with healthy babies of the same age, abnormalities of lung function were identified in almost half of NBS infants by 3 months, even though many had not had previous respiratory symptoms such as coughing or difficulty breathing.

  • What does this mean and reasons for caution?

    Despite early diagnosis and treatment in specialist centres, abnormal lung function was evident in many NBS infants with CF by 3 months of age. Since this study is the largest of its kind and the only one to compare results directly with those from healthy babies tested with identical methods, the findings of very early onset of lung disease in NBS babies with CF are likely to be reliable. However, further follow-up is required to determine whether these changes persist, deteriorate or improve with the most commonly used treatments during the first years of life.

  • What's next?

    Both NBS CF infants and healthy controls are currently being followed up to assess the pattern of lung development during the first 2 years of life. This will help us to know the best time to commence any studies based on new treatments and how many infants would need to be recruited to such clinical trials.