New recommendations for cystic fibrosis screening in newborns aim to improve diagnosis and outcomes for infants with the disorder. Despite all babies in the U.S. receiving newborn screening for cystic fibrosis since 2010, this is the first guideline to improve the timeliness, sensitivity and breadth of diagnoses in all infants with cystic fibrosis by newborn screening. Findings led by first author Meghan McGarry, MD, MAS, at Seattle Children’s Research Institute’s Center for Respiratory Biology and Therapeutics are published in the International Journal of Neonatal Screening.
Newborn screening is an important step in infant health, as these tests aim to detect serious, but often rare, health conditions in newborns that might not be apparent at birth. Early detection allows for timely intervention and treatment for a wide variety of diseases, including cystic fibrosis.
A chronic and potentially life-threatening disorder, cystic fibrosis is an inherited condition that causes the mucus lining the lungs and throat to become thick and sticky. The earlier a child is diagnosed with this condition, the better their long-term outcomes.
As vital as newborn screenings are to timely cystic fibrosis diagnoses, Dr. McGarry found notable differences in how they are conducted state by state.
“Some states test for a wider range of genetic variants, while others test for a smaller number that do not include variants seen in all populations and ancestries,” Dr. McGarry said. “This variance in testing could lead to delayed diagnosis and care, especially in communities where cystic fibrosis is under-recognized.”
