Newborn sickle cell screening program aids outcomes for children
From 2015 to 2022, more than 500,000 babies were tested in Catalonia
A newborn screening program in Catalonia improved outcomes for children with sickle cell disease (SCD), with patients being diagnosed earlier and having lower rates of major disease complications.
“The data presented justify screening in countries where it has not yet been implemented, as it reduces patient morbidity and likely the cost of disease management,” Pablo Velasco, physician at Vall d’Hebron Children’s and Women’s Hospitals and study co-author, said in a press release.
Newborn screening programs are put in place to test all babies born in a given area for specific congenital disorders. They are increasingly being implemented to improve early diagnosis and care for conditions where treatments are available.
A newborn screening program for SCD in Catalonia was implemented in 2015. Scientists reported on the outcomes from the first seven years of the program in the study, “Newborn Screening for Sickle Cell Disease in Catalonia between 2015 and 2022-Epidemiology and Impact on Clinical Events,” which was published in the International Journal of Neonatal Screening.
“The article is innovative because it demonstrates for the first time how the implementation of [newborn screening] affects children with SCD, leading to fewer complications, hospitalizations, and transfusions,” Velasco said.
SCD is a genetic disease where an abnormal form of the protein that transports oxygen in red blood cells, called hemoglobin, is produced. The faulty protein causes red blood cells to take a sickle-like shape and these cells are prone to die early and block blood vessels, leading to a series of complications.
Screening babies for sickle cell disease
From 2015 to 2022, more than 500,000 babies were tested for SCD in Catalonia’s newborn screening program. Ultimately, 160 cases were diagnosed, corresponding to an incidence rate of 1 in every 3,169 newborns.
Almost all the diagnosed cases were detected via newborn screening. In two cases, patients tested negative on screening, but were found in later clinical tests to have SCD. Also, four false-positive results flagged children who didn’t have SCD. Overall, the program’s global accuracy was 99.9%.
To assess the impact of the screening program on patient outcomes, researchers compared the outcomes of 100 children diagnosed with SCD via newborn screening with those of 95 children with SCD who’d been diagnosed before the program began.
The newborn screening program helped facilitate early diagnoses, results showed. Most children in the screening program were diagnosed within the first or second month of life, whereas before the program, most weren’t diagnosed until they were more than 1.5 years old.
Consistently, most children diagnosed via newborn screening started preventive treatment with penicillin in the first months of life, while before the program, most children didn’t start treatment until they were nearly 2. The same tendency was seen for hydroxyurea, an approved SCD treatment, with children in the program starting treatment at a median age of 1.42 and those not diagnosed in the program starting treatment at a median age of 4.5.
Significantly fewer children diagnosed via newborn screening had serious SCD-related complications in their first six years (55% vs. 81.1%). Rates of clinical events, including hospitalizations and painful vaso-occlusive crises, also were generally lower among those diagnosed via newborn screening.
“Our findings indicate that [newborn screening] reduced the median number of clinical events per year of follow-up by 50%, decreased SCD-related events by 75%, and halved the frequency of visits to the [emergency room] and hospitalizations,” wrote the researchers, who noted the data support newborn screening as a way to improve care in SCD.
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