All states should adopt updated screening protocols so more newborns with cystic fibrosis can be diagnosed in the first weeks of life, when interventions can have the greatest benefit, according to the Cystic Fibrosis Foundation guidelines published April 2 in the International Journal of Neonatal Screening.
Current newborn screening protocols vary across states. Some states use outdated protocols that often miss cases of the inherited disease, especially in newborns with Black, Hispanic and Asian, as well as American Indian and multiracial ancestry, said Dr. Meghan McGarry, a pediatric lung specialist and associate professor of pediatrics at the University of Washington School of Medicine.
McGarry and Karen Siklosi Raraig, assistant professor of genetic medicine, Johns Hopkins University, were the co-lead authors of the guidelines.
“Because the disease impairs the newborn’s ability to absorb nutrients, a delay in diagnosis of a week or so can lead to damaging weight loss and other complications,” McGarry said. “If the diagnosis is missed, you will often see serious growth problems and permanent lung damage as the child grows older.”
Cystic fibrosis is an inherited disorder that affects about 40,000 children and adults in the United States. It occurs when a child inherits two mutated copies of a certain gene, one from each parent. This gene normally provides instructions for the synthesis of a protein called the cystic fibrosis transmembrane conductance regulator (CFTR), which controls the movement of salt and water in and out of cells.
