Medical Definition of Newborn screening

Reviewed on 3/29/2021

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.
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