The Utah Newborn Screening Program tests all newborns in Utah for over 40 medical conditions that can affect their growth, development, and long-term health. While many people associate newborn ...

Freya 4, has been diagnosed with a rare metabolic disorder called hereditary fructose intolerance (HFI) ...

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 ...

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 ...

CARMEL, Ind. — Every Thursday, 1-year-old Grant and his parents come to IU Health North Hospital so he can receive a five-hour enzyme replacement infusion. It’s something they’ve been doing since he ...

Shannon Smith describes her daughter's birth as not all that eventful. She and her husband drove 10 minutes from their home in rural Alabama across the state line to a hospital in Georgia where they ...

Among serious illnesses the genetic screening could detect is retinoblastoma, a rare and highly curable cancer that develops ...

You might be aware that a blood sample is taken soon after your infant is born to test for dozens of genetic and metabolic disorders. But did you realize that super quick (and painless) newborn ...

In December 2020, Utah's Newborn Screening Program identified the first patient with Guanidinoacetate methyltransferase (GAMT) deficiency solely through newborn screening. GAMT deficiency is an ...