Neonatal Genetics

Newborn screening is a 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.

Newborn screening originated with an amino acid disorder, phenylketonuria (PKU), which can be easily treated by dietary modifications, but causes severe mental retardation if not identified and treated early.

  • Neonatal cellular bioenergetics
  • Neonatal pharmacokinetics
  • Maternal obesity
  • Fetal origins of adult disease
  • Neonatal screening


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