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 ...

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 ...

For most parents, newborn screening tests are a barely perceptible safety net. But for the small minority whose babies get diagnosed with a serious but treatable illness, the tests can be lifesaving.

Newborn screening for genetic metabolic diseases helps a portion of children stay healthy as they grow, but decompensation episodes still occur in the first weeks after birth before test results come ...

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 ...

Advances in technology and the expansion of screening programs has contributed to earlier detection of genetic and pregnancy associated health conditions and structural anomalies prenatally, ...