List of disorders included in newborn screening programs

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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.

American College of Medical Genetics recommendations[edit]

Core panel[edit]

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


Secondary targets[edit]

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


References[edit]

  1. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa Newborn Screening Authoring Committee (2008). "Newborn Screening Expands: Recommendations for Pediatricians and Medical Homes—Implications for the System". Pediatrics 121 (1): 192–217. doi:10.1542/peds.2007-3021. 
  2. ^ "Newborn Screening: Toward a Uniform Screening Panel and System: Main Report". Genetics in Medicine (American College of Medical Genetics) 8 (5, Supplement): 12S–252S. May 2008. doi:10.1097/01.gim.0000223467.60151.02.