Routine newborn screening (NBS) has transformed early disease detection. However, traditional biochemical tests limit the ...

A committee of experts will conduct a study examining the current landscape of newborn screening (NBS) systems, processes, and research in the United States and consider sustainable adoption of ...

September is Newborn Screening Awareness Month, highlighting the importance of early detection and intervention for newborns. Here, Dr. Joshua Baker, attending physician in genetics, genomics and ...

Established in 2025, the Newborn Screening Collaborative (NBSC) is a volunteer group of patient advocacy, public health, and ...

Newborn screening for inborn errors of metabolism (IEMs) is an essential public health initiative that facilitates early detection of genetic disorders affecting metabolic pathways. By utilising ...

A retrospective analysis on newborn screening for spinal muscular atrophy (SMA) provides further evidence for the benefits of early identification and treatment of the disease. Over the years, a ...

There are 2 methods of screening for disorders on the RUSP: dried bloodspot screening and point of care screening, both of which are generally performed prior to discharge at the hospital where the ...

UCSF Pediatrics Professor Jennifer Puck, MD, has spent decades pushing for universal newborn screening to detect severe combined immune deficiency (SCID), a rare but deadly genetic disorder. Today, ...

Elisa Seegar’s son, Aidan, was 7 when he died from a rare condition that could have been treated early if he had been screened for it as a newborn. Although Florida is one of the states that screens ...

"The benefits of newborn screening identified in the study presented here encompass not only the achievement of motor milestones, but also a reduced need for ventilator support or tube feeding and a ...