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 ...

This is an archived article and the information in the article may be outdated. Please look at the time stamp on the story to see when it was last updated. All newborns undergo screening. They’re ...

When a baby is born in the United States, a few drops of blood are taken from their heel to test for many conditions that could affect the child’s long-term health or survival. This testing is part of ...

This archived news story is available only for your personal, non-commercial use. Information in the story may be outdated or superseded by additional information. Reading or replaying the story in ...

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 ...

We were unable to process your request. Please try again later. If you continue to have this issue please contact [email protected]. A little over 40% of parents did not know about the ...

The earlier diseases are diagnosed, the earlier they can be treated. Unfortunately, time is often of the essence for those with rare genetic disorders. For example, the few therapies that exist for ...

Kerri De Nies received the news this spring from her son's pediatrician: Her chubby-cheeked toddler has a rare brain disorder. She'd never heard of the disease — adrenoleukodystrophy, or ALD — but ...

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 ...

There are plans to add two more genetic disorders for screening for Wisconsin’s newborn screening program. X-Linked Adrenoleukodystrophy (X-ALD) and Mucopolysaccharidosis Type 1 (MPS 1) will be part ...

Two children with a rare genetic condition will live very different lives because one was tested at birth and the other was ...