Neonatal Genetics

New-born screening is a screening in infants shortly after birth for a list of conditions that are treatable, but not clinically evident in the new-born period. Some of the conditions included in new-born 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.

New-born 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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