The Journal of Pediatrics has published a manuscript by Stacey Martiniano, MD, pulmonary specialist at Kid’s Hospital Colorado and associate professor of pediatrics on the University of Colorado.

Dr. Martiniano was primary creator on the study titled, Late Diagnosis within the Era of Universal Newborn Screening Negatively Effects Short- and Long-Term Growth and Health Outcomes in Infants with Cystic Fibrosis. The manuscript’s senior creator was Susanna McColley, MD, professor of pediatrics in pulmonary and sleep medicine at Northwestern University Feinberg School of Medicine and Ann & Robert H. Lurie Kid’s Hospital of Chicago. The research was funded by the Cystic Fibrosis Foundation.

Newborn screening for cystic fibrosis (CF) was fully implemented in all 50 states within the U.S. by 2010, but delays in timeliness of evaluation for infants with positive newborn screen tests persist. Through evaluation of national patient registry data, Dr. Martiniano and her team determined that later initiation of CF care is related to poorer long-term dietary outcomes.

Specifically, a delay in initial care at a CF center from just 10 days of life to 47 days of life was related to reduced weight-for-age through 1 12 months of age and reduced height-for-age through 5 years of age. These are clinically vital findings because adolescence weight-for-age and height-for-age are related to later pulmonary function and survival.

It’s imperative that not only can we not miss diagnosing babies with CF, but that we also emphasize urgent referral for newborn screen follow-up for babies with an out-of-range screen, including sweat testing and referral for care at an accredited CF care center.”

Stacey Martiniano, MD, Pulmonary Specialist, Kid’s Hospital Colorado

Infants within the later cohort mostly had a sweat test as their first CF evaluation and were more prone to have just one CF gene variant detected on commercially available panels utilized by most newborn screening programs. This may increasingly have caused a diminished sense of urgency to get the infants evaluated possible resulting in delays in treatment based on a false assumption that two variants could be detected if the infant had CF.

“This can allow all babies with CF to be equitably began on treatments, with a goal before 1 month of age, to have improved long-term health outcomes,” Dr. Martiniano said. This is very vital today resulting from emergence of ground-breaking, disease-modifying treatment available for infants and young children with CF.”

CF is an inherited disorder that affects the lungs, digestive system and other organs within the body. The disorder disrupts the traditional function of epithelial cells, which line passageways within the respiratory tract, digestive system, sweat glands and reproductive system. Because cystic fibrosis impacts so many organs, it might disrupt most of the body’s essential functions.

Source:

Kid’s Hospital Colorado

Journal reference:

Martiniano, S. L., et al. (2023) Late Diagnosis within the Era of Universal Newborn Screening Negatively Effects Short- and Long-Term Growth and Health Outcomes in Infants with Cystic Fibrosis. The Journal of Pediatrics. doi.org/10.1016/j.jpeds.2023.113595.