The impact of extended newborn screening programs on inherited metabolic diseases

To address this knowledge gap, a team of researchers investigated clinical outcomes of people with inherited metabolic diseases that had been identified via newborn screening programs. The study, published in Pediatrics, analyzed 306 people between 1999 and 2016 who were followed for a median time of 6.2 years.

The research team ultimately found that individuals with phenylketonuria, as well as those with a lifelong risk of metabolic decomposition, had favorable long-term outcomes. They also found that a high newborn screening process quality was a necessity for this positive result.

“Although the risk for metabolic decompensation was disease-specific and NBS could not prevent decompensations in every individual at risk (n = 49), the majority did not develop permanent disease-specific signs (75.9%), showed normal development (95.6%) and normal cognitive outcome (87.7%; mean IQ: 100.4), and mostly attended regular kindergarten (95.2%) and primary school (95.2%),” the authors wrote.

Newborn screening, according to the research team, is a highly successful element of secondary prevention for inherited metabolic diseases. They noted, however, that these screenings may not be successful in completely preventing clinical presentation in all individuals.

For further detail of this prospective multicenter observational study, visit Contemporary Pediatrics.