Sickle cell disease (SCD) is caused by a genetic mutation that affects haemoglobin. In people with SCD, abnormal haemoglobin ...

New research from large population studies provides invaluable evidence on genome screening of newborn babies to reduce risks ...

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 ...

WASHINGTON — Leadership and coordination at the national level are needed to build on the strength of screening programs that test all newborn babies’ blood for serious health conditions and to ensure ...

Screening newborns for severe combined immunodeficiency disease (SCID) significantly increases the survival of children after bone marrow transplantation, a new North American study finds. Published ...

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 ...

For decades, newborn screening has relied on a heel-prick blood test that identifies a limited number of serious conditions ...

Congenital cytomegalovirus occurs in one out of every 200 babies and is the most common infectious cause of hearing loss and ...

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 ...

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 ...

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 ...