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

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 ...

Routine newborn screening (NBS) has transformed early disease detection. However, traditional biochemical tests limit the range of conditions that can be identified at birth. Next-generation ...

Adding genomic sequencing to newborn blood screening would detect hundreds of additional childhood conditions, providing much earlier diagnosis and treatment, according to a new study. A baby's genome ...

The pop singer's twin daughters have the condition she's spent months raising awareness about ...

Yet, the effectiveness of genetic sequencing as an alternative method for NBS has not previously been studied. To evaluate the outcomes of applying gene panel sequencing as a first-tier newborn ...

Your baby’s newborn screening may include testing for certain galactosemia disorders. These rare health conditions affect how a body breaks down galactose, a sugar found in all foods that contain milk ...