newborn screening

newborn screening Testing of newborns to screen for serious treatable diseases, many of which are genetic. Which newborn screening tests are done in the US are determined on a state-by-state basis. The most common newborn screening tests in the US are for hypothyroidism, phenylketonuria (PKU), galactosemia, and sickle cell disease. Testing for hypothyroidism and PKU is required in virtually all states, and testing for galactosemia and sickle cell disease is required in most states. Some states mandate tests for other conditions, including deafness, maple syrup urine disease, homocystinuria, congenital adrenal hyperplasia, tyrosinemia, cystic fibrosis, and toxoplasmosis. See also cystic fibrosis; galactosemia; homocystinuria; hypothyroidism, congenital; maple syrup urine disease; phenylketonuria; sickle cell disease; toxoplasmosis; tyrosinemia.