The impact of extended newborn screening programs on inherited metabolic diseases

Article

Despite the fact that extended newborn screenings have been used for more than 20 years, the impact of such screenings on long-term clinical outcomes among individuals who had inherited metabolic diseases is still relatively unknown.

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.

Recent Videos
Mirvie's RNA platform revolutionizes detection of fetal growth restriction | Image Credit: wexnermedical.osu.edu
How early genetic testing empowers parents and improves outcomes | Image Credit: tuftsmedicine.org
Dallas Reed highlights trends and barriers in prenatal genetic testing | Image Credit: tuftsmedicine.org
How maternal fetal medicine specialists improve outcomes for high-risk pregnancies | Image Credit: profiles.mountsinai.org
Screening-to-diagnosis interval vital for gestational diabetes outcomes | Image Credit: ultracon2024.eventscribe.net
Henri M. Rosenberg, MD
Study explores the limits of neighborhood data in predicting preterm birth | Image Credit: linkedin.com
Integrase inhibitors not linked to neonatal weight | Image Credit: linkedin.com
How AI is revolutionizing prenatal detection of congenital heart defects | Image Credit: mfmnyc.com/team.
Dr. Wennerholm highlights future opportunities for managing prolonged pregnancy | Image Credit: gu.se/en/about/find-staff.
Related Content
© 2025 MJH Life Sciences

All rights reserved.