Neonatal screening, called newborn screening (NBS) in some countries, was initiated in Europe and the US during the 1960s. Since then, new newborn screening has touched the lives of many families and their babies around the world.
With a simple set of tests, doctors can screen babies for life-threatening rare diseases, that aren’t otherwise found at birth, such as phenylketonuria, congenital hypothyroidism, severe combined immunodeficiency, cystic fibrosis, hemoglobinopathies, spinal muscular atrophy and many others. And with it, inform the babies families so they may be able to receive the necessary early treatment to save their lives.
In fact, there is general agreement that the early asymptomatic detection enabled by whole population newborn screening permits a significant life-changing and sometimes life-saving benefit and can be a cost-effective means of identifying and treating babies with Rare Disorders as part of public health provision during infancy.