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 ...

When a baby is born in the United States, a few drops of blood are taken from their heel to test for many conditions that could affect the child’s long-term health or survival. This testing is part of ...

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, ...

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 ...

NBS programs are fairly new in the U.S., so not much is known about variations among them or about provider practice patterns for newborns with SMA. In a survey of providers and state NBS programs, ...

If you have ever welcomed a new baby into the world, you know the mix of hope and uncertainty that comes with those first days. For decades, newborn screening has been a quiet triumph of public health ...

I got a blood test as a newborn that changed the course of my life forever. The test, part of newborn screening performed on babies across the U.S. led to my being diagnosed with a rare inherited ...

Advances in technology and the expansion of screening programs has contributed to earlier detection of genetic and pregnancy associated health conditions and structural anomalies prenatally, ...

Children with spinal muscular atrophy (SMA) identified by newborn screening showed better motor development with disease-modifying treatment than those diagnosed after symptom onset, a German cohort ...

More than a decade ago, researchers launched the BabySeq Project, a pilot program to return newborn genomic sequencing results to parents and measure the effects on newborn care. Today, over 30 ...