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 Newborn screening is a public
health program of screening in infants shortly
after birth for a list of conditions that are
treatable, but not clinically evident in the
newborn period.
 Some of the conditions included in newborn
screening programs are only detectable after
irreversible damage has been done, in some
cases sudden death is the first manifestation
of a disease.
 Screening programs are often run by state or
national governing bodies with the goal of
screening all infants born in the jurisdiction.
 The number of diseases screened for is set by
each jurisdiction, and can vary greatly.
 Most newborn screening tests are done by
measuring metabolites and enzyme activity
in whole blood samples collected on
specialized filter paper, however many areas
are starting to screen infants for hearing
loss using automated auditory brainstem
response and congenital heart defects
using pulse oximetry.
 Amino acid disorders
 Fatty acid oxidation disorders
 Endocrinopathies
 Hemoglobinopathies
 Organic acidemias
 Cystic fibrosis
 Urea cycle disorders
 Lysosomal storage disorders
 Hearing loss
 Congenital heart defects
 Severe combined immunodeficiency
 Sample collection
 Laboratory testing
 Reporting results
 Abnormal findings on neonatal screening-
P09
 Use additional code to identify
signs,symptoms and conditions associated
with the screening
 https://www.medesunglobal.com
THANK YOU

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Abnormal findings on neonatal screening

  • 1.
  • 2.  Newborn screening is a public health program of screening in infants shortly after birth for a list of conditions that are treatable, but not clinically evident in the newborn period.  Some of the conditions included in newborn screening programs are only detectable after irreversible damage has been done, in some cases sudden death is the first manifestation of a disease.
  • 3.  Screening programs are often run by state or national governing bodies with the goal of screening all infants born in the jurisdiction.  The number of diseases screened for is set by each jurisdiction, and can vary greatly.
  • 4.  Most newborn screening tests are done by measuring metabolites and enzyme activity in whole blood samples collected on specialized filter paper, however many areas are starting to screen infants for hearing loss using automated auditory brainstem response and congenital heart defects using pulse oximetry.
  • 5.  Amino acid disorders  Fatty acid oxidation disorders  Endocrinopathies  Hemoglobinopathies  Organic acidemias  Cystic fibrosis
  • 6.  Urea cycle disorders  Lysosomal storage disorders  Hearing loss  Congenital heart defects  Severe combined immunodeficiency
  • 7.  Sample collection  Laboratory testing  Reporting results
  • 8.  Abnormal findings on neonatal screening- P09  Use additional code to identify signs,symptoms and conditions associated with the screening  https://www.medesunglobal.com