This is a list of disorders included in newborn screening programs around the world, along with information on testing methodologies, disease incidence and rationale for being included in screening programs.
The following conditions and disorders were recommended as a "core panel" by the 2005 report of the American College of Medical Genetics (ACMG).[1] The incidences reported below are from the full report, though the rates may vary in different populations.[2]
Blood cell disorders
Inborn errors of amino acid metabolism
Inborn errors of organic acid metabolism
Inborn errors of fatty acid metabolism
Miscellaneous multisystem diseases
Newborn screening by other methods than blood testing
The following disorders are additional conditions that may be detected by screening. Many are listed as "secondary targets" by the 2005 ACMG report.[1] Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians and other primary health care professionals.[1]
Blood cell disorders
Inborn errors of amino acid metabolism
Inborn errors of organic acid metabolism
Inborn errors of fatty acid metabolism
Miscellaneous multisystem diseases
In addition to identifying a core list of disorders that infants in the United States should be screened for, the ACMG also established a framework for nominating future conditions, and the structure under which those conditions should be considered.