An updated report from Ann & Robert H. Lurie Children’s Hospital of Chicago, developed in collaboration with the Cystic Fibrosis Foundation and funded by the Centers for Disease Control and Prevention (CDC), presents new national guidelines for newborn screening of cystic fibrosis (CF). The guidelines are intended to improve early detection of CF in infants across different racial and ethnic groups.
Cystic fibrosis is a genetic disorder that affects digestion and breathing, impacting about 40,000 children and adults in the United States. All states currently screen newborns for CF, but differences in testing practices and genetic panels can result in missed or delayed diagnoses. These delays are more common among Black, Hispanic, or Asian infants due to less common gene variants not typically included in standard screening panels. As a result, these infants may receive a diagnosis only after symptoms develop.
“The new recommendations are designed to improve detection of CF in babies from all racial and ethnic backgrounds,” said Susanna McColley, MD, co-author of the report and co-senior author on the CF guidelines. Dr. McColley is a pediatric pulmonologist at Lurie Children’s and Professor of Pediatrics at Northwestern University Feinberg School of Medicine. “The recommendations also aim to shorten time from birth to diagnosis and treatment, which has been shown to improve health for babies with CF.”
According to the report, there has been progress in identifying CF earlier within the first 28 days after birth. In 2014, 40 percent of infants with CF were tested after this period; by 2024 this figure had dropped to 33 percent.
“The improved timeliness in evaluation for CF is encouraging,” said Dr. McColley. “However, we still see delays in a third of the cases, so more needs to be done to increase awareness among families and primary care providers that earlier diagnosis dramatically improves symptoms and ultimately survival.”
Evidence cited in the report indicates that babies diagnosed with CF within two weeks have better nutrition at ages one and five compared to those diagnosed later.
“Better nutrition means better growth and development for babies with CF, and with that comes better lung function and less severe disease trajectory,” said Dr. McColley. “We urge parents to work with their child’s pediatric care provider to assure diagnostic evaluation for CF within a few days of a positive newborn screening test for CF, so that treatment can begin as soon as possible if their baby has CF.”
Dr. McColley also warned about false-negative results from newborn screenings—particularly among Black or Asian infants—and emphasized: “Infants of any race or background showing clinical signs of CF, including bowel obstruction and growth faltering, should be referred for diagnostic evaluation even if the newborn screening results are normal,” she said.
Ann & Robert H. Lurie Children’s Hospital of Chicago is an independent nonprofit hospital focused on pediatric care through research conducted at Stanley Manne Children’s Research Institute. It serves as a training site for Northwestern University Feinberg School of Medicine students and is recognized nationally by U.S. News & World Report.
