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 ...

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 ...

Atypical metabolic markers from routine newborn screening were associated with sudden infant death syndrome (SIDS), a case-control study suggested. Fourteen metabolic markers significantly correlated ...

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 ...

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, ...

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 ...

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, ...

The United States Cystic Fibrosis Foundation released the first guideline on newborn screening for cystic fibrosis (CF), in order to improve timely detection of CF in infants from all racial and ...

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, ...

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 ...