Screenings to Detect Cystic Fibrosis in Newborns of Benefit Across Child’s Life, Study Reports

Newborn screening programs for cystic fibrosis (CF) are in wide use, but recent improvements in readily available therapies for young children have raised the question of whether such screening is still of benefit.

In the study, “The benefits of newborn screening for cystic fibrosis: The Canadian experience,” published in the Journal of Cystic Fibrosis, researchers from the Research Institute of the McGill University Health Centre (RI-MUHC) and Cystic Fibrosis Canada reported that even in the presence of these therapies, newborn screening has a strongly positive impact on babies born with CF, reinforcing its benefits.

Newborn screening programs have been widely adopted in several European countries, Australia, New Zealand, and much of North America, improving the health outcomes and overall survival of CF patients, as once the diagnosis is confirmed, typically in the first four-to-six weeks of life, education and treatment is initiated. However, such programs are not yet available in Mexico or Quebec.

The research team, led by Dr. Larry Lands, director of Pediatric Respiratory Medicine and CF clinic at the Montreal Children’s Hospital at MUHC, and a professor in the Department of Pediatrics at McGill University, aimed to compare the health outcomes of Canadian children diagnosed via newborn screening with children born in Quebec who did not have access to the screening.

“Given the changes in clinical management for CF, we questioned whether or not newborn screening for CF was still beneficial,” Dr. Denise Mak, program manager, Healthcare at Cystic Fibrosis Canada, and the study’s first author, said in a press release. “We wanted to know in an unbiased way whether newborn screening was beneficial to Canadian CF patients, or whether current treatments would allow those patients diagnosed because of symptoms to catch up in their overall health.”

Investigators used data from the Canadian CF Registry from 2008 to 2013, to compare 201 subjects from Alberta and Ontario who had been diagnosed with newborn screening, with 102 children from Quebec who had been diagnosed through the presence of symptoms, over a period of six years.

Results revealed that children diagnosed through a newborn screening test were diagnosed earlier (0.7 versus 4.9 months), and had fewer and shorter hospitalizations due to pulmonary problems. In fact, by age 6, over 60 percent of the patients who were not screened as newborns had already been infected with Pseudomonas aeruginosa at least once, compared with less than 30 percent in the screened group. Staphylococcus aureus infections were also higher in patients only diagnosed on the basis of symptoms.

“Our study shows that newborn screening is effective and should be seen as an opportunity to do early preventive intervention. Children with CF who are diagnosed through newborn screening are healthier and will benefit more from new treatments,” Dr. Lands concluded. “These results indicate that current therapies started after a clinical diagnosis do not compensate for being diagnosed based on symptoms and lead to poorer health outcomes. We hope that this study will serve as a catalyst to have newborn screening for CF adopted widely.”

CF is characterized by severe problems in the digestive and respiratory tracts, caused by thick mucus that plugs the pancreatic ducts and the airways, leading to pulmonary chronic inflammation and loss of lung function.