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 ...

This study presents the outcomes of genetic NBS as a first-tier screening test in clinical settings, which is of great importance to clinicians, geneticists, and families for better health care and ...

WASHINGTON — Leadership and coordination at the national level are needed to build on the strength of screening programs that test all newborn babies’ blood for serious health conditions and to ensure ...

Preterm babies face greater health risks from the moment they are born. Their organs, immune systems, and metabolic pathways are not fully developed, making them more vulnerable to complications.

Please provide your email address to receive an email when new articles are posted on . Cystic fibrosis screening varies widely from state to state. Testing for only a small number of gene variants ...

Newborn screening (NBS) is routinely performed across the world using biochemical testing methods. Recent advancements in genetic sequencing are a potential game-changer for newborn screening, swiftly ...