Newborn Screening for Cystic Fibrosis

Newborn Screening for Cystic Fibrosis and Its Impact on the Clinical Diagnostic Laboratory

Cystic fibrosis is a devastating disease. Children with CF can have it for years without being diagnosed, and the longer they go without treatment, the greater their risk for severe complications from the disease. Neonatal screening for CF provides an opportunity to quickly identify affected babies and help prevent malnutrition in CF children. But while an increasing number of studies show that early diagnosis is beneficial, widely differing newborn screening requirements in the various United States indicate that a difference in medical and political opinions still exists in this area.

CF is often not diagnosed until patients present with typical symptoms: thick mucous in the lungs that hinders breathing and leads to chronic infection; a blocked pancreas that leads to insufficient enzymes specific for fats, thereby resulting in malnourishment and excess fats in the stool; and the tell-tale sign of CF salt residue on the skin as a result of insufficient bodily resorption of salt excretions in sweat.

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