"I think you always believe it's never going to happen to me." That is how one parent described learning that their newborn ...

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 ...

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, ...

In Australia, every newborn baby is offered a screening test for 34 serious but treatable conditions (or groups of conditions ...

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 ...

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 ...

Today, the GUARDIAN study is moving newborn screening to genomic sequencing, potentially detecting hundreds of conditions before symptoms even appear. But can this cutting-edge technology replace ...

Newborn screening for genetic metabolic diseases helps a portion of children stay healthy as they grow, but decompensation episodes still occur in the first weeks after birth before test results come ...

The Nevada Newborn Screening Program screens all babies for serious, but often treatable, disorders. Many conditions are not easily recognizable at birth, and if left untreated, can cause serious ...