Definition of Newborn screening

Newborn screening: Tests of newborns to screen for serious treatable diseases most of which are genetic. The newborn screening tests done in the United States are decided on a state-by-state basis.

• The most common newborn screening tests in the US include those for hypothyroidism (underactivity of the thyroid gland), PKU (phenylketonuria), galactosemia, and sickle cell disease.
• Testing for hypothyroidism and PKU is required in virtually all States.
• Screening for galactosemia and sickle cell disease is required in most states.
• Some states in the US mandate tests for other conditions. These include: maple syrup urine disease (MSUD), homocystinuria, biotinidase deficiency, congenital adrenal hyperplasia, MCAD, tyrosinemia, cystic fibrosis, and toxoplasmosis.
• All these tests are usually done using the same sample of the baby's blood.