Updated newborn screening guidelines aim to improve cystic fibrosis detection

An updated report on cystic fibrosis (CF) from Ann & Robert H. Lurie Children's Hospital of Chicago, in partnership with the Cystic Fibrosis Foundation and funded by the Centers for Disease Control and Prevention (CDC), highlights the new national guidelines on CF newborn screening that aim to detect affected babies earlier, more accurately and more fairly.

CF is a genetic disorder that causes problems with digestion and breathing, impacting about 40,000 children and adults in the United States. Currently, newborns in every state are screened for CF. However, great variation in practice and the genetic panels used contributes to missed and delayed diagnosis, which leads to worse outcomes.

Delays more often occur in diagnosis of infants who are Black, Hispanic, or Asian, in part because these groups tend to have CF-causing gene variants that are rarer and seldom included in the newborn screening panels. These infants frequently screen negative and get diagnosed much later when they exhibit symptoms.

"The new recommendations are designed to improve detection of CF in babies from all racial and ethnic backgrounds," said report co-author and co-senior author on the CF guidelines Susanna McColley, MD, an internationally recognized expert in CF newborn screening, 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."

The recent CF report shows steady progress in identifying the illness earlier, within the first 28 days of life. In 2014, 40 percent of infants with CF were first seen for testing after this optimal timeframe. By 2024, the percentage dropped to 33 percent.

The improved timeliness in evaluation for CF is encouraging. 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."

Dr. Susanna McColley, MD, pediatric pulmonologist at Lurie Children's and Professor of Pediatrics at Northwestern University Feinberg School of Medicine

The report cites evidence that babies with CF who are diagnosed in the first two weeks of life have better nutrition at 1 and 5 years of age than babies who are diagnosed during the second month of life.

"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 cautioned that CF newborn screening results can be false-negative, especially in infants who are Black or Asian. "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.