Medical Definition of Newborn screening

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

Reviewed on 12/13/2018

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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Reviewed on 12/13/2018