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.
Regulatory T cell alterations in early pregnancy linked to spontaneous preterm labor
February 18th 2025A recent study reveals that specific Treg subpopulation changes in the first trimester may contribute to spontaneous preterm labor, shedding light on the role of immune regulation in pregnancy outcomes.
Read More
S4E1: New RNA platform can predict pregnancy complications
February 11th 2022In this episode of Pap Talk, Contemporary OB/GYN® sat down with Maneesh Jain, CEO of Mirvie, and Michal Elovitz, MD, chief medical advisor at Mirvie, a new RNA platform that is able to predict pregnancy complications by revealing the biology of each pregnancy. They discussed recently published data regarding the platform's ability to predict preeclampsia and preterm birth.
Listen
Removing parental consent reduces delays in adolescent abortion care
February 12th 2025A new study links the removal of parental consent requirements for abortion in Massachusetts to significantly earlier gestational age at the time of the procedure, highlighting the impact of reduced barriers on timely reproductive care.
Read More