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Neonatal screening for cystic fibrosis

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Birth prevalence

  • Approximately 1 in 2500 live births in populations of Western European origin; similar prevalence in Jewish populations.

General characteristics

  • Inheritance is autosomal recessive.

  • One in 25 people is a carrier.

  • More than 850 cystic fibrosis (CF) gene mutations have been identified; four mutations account for about 85% of the total.1

  • Incidence of different mutations varies according to ethnic composition of populations.

Natural history

  • 10–15% of newborns with CF require abdominal surgery to remove intestinal meconium plugs.

  • Abnormal mucus secretion leads to chronic progressive lung damage.

  • Intense respiratory management by inhalants, antibiotics, and physical therapy improves survival.

  • Intestinal absorption of dietary protein and fat is impaired by a lack of pancreatic enzymes.

  • Lung damage from cystic fibrosis leads to …

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Footnotes

  • Reproduced with permission from the Journal of Medical Screening 2001;8:51.

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