Archives of Disease in Childhood 2001;84:449; doi:10.1136/adc.84.5.449
Copyright © 2001 BMJ Publishing Group Ltd & Royal College of Paediatrics and Child Health.
Neonatal screening for cystic fibrosis
| The first 150 words of the full text of this article appear below. |
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 it being the main indication for heart-lung transplants.
- Expectation of life about 30 years.2 3
Screening procedure
- In newborns, radioimmunoassay for immunoreactive trypsin (IRT) on dried blood spots.4 False positive rate is dependent on the cut-off
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