Should all babies have their genomes sequenced at birth? The question has been hotly debated for the past 15 years. Unlocking the genome’s 3.2-billion-letter code promises understanding of both health ...

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 ...

February is Rare Disease month, and two Utah families are leading the way in newborn screening for Creatine Deficiency.

It could be years before Wisconsin begins testing for a rare but potentially deadly disease in newborns. The test would be for Krabbe, a recessive genetic condition that belongs to a group of ...

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 ...

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 ...

Every year, millions of newborns undergo routine screening as a preventive strategy to detect inherited disorders before ...

Routine newborn screening (NBS) has transformed early disease detection. However, traditional biochemical tests limit the ...

Congenital cytomegalovirus (cCMV) is the most common infectious cause of birth defects and non-genetic hearing loss in the United States, yet it remains underdiagnosed due to the absence of universal ...