Critical congenital heart diseases, or CCHDs, are a group of life-threatening structural heart defects present at birth.

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 ...

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 ...

A growing number of parents across the U.S. are declining routine preventive care for their newborns. Doctors say the trend ...

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 ...

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 ...

Hepatitis B virus (HBV) infection acquired at birth or during early infancy can lead to lifelong health complications, ...

A newborn and infant hearing screening test using a smartphone-based device to detect otoacoustic emissions (OAE) showed a ...

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 ...

Newborn screening (NBS) is a public health service available to approximately 3.6 million infants born in the United States each year. Over 98 percent of those infants receive screening. State and ...

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 ...

A more rational approach would ground screening decisions in epidemiological relevance, feasibility of treatment, and health ...