Tuesday, October 26, 2010

What is the Newborn Screening?

This a program from the State of Arizona that screens all newborns for disorders that if diagnosed early enough can be treated. There are also different programs for the different states with regards to the newborn screeen.This comprise of a blood spot screening which detects 28 disorders and a hearing test. The blood spot specimens are analyzed by the State Laboratory. Most babies are born healthy and the screening can identify ones with problems. Approximately 300 newborns each year in Arizona has been identified to have some type of disorder. They can develop organ damage, developmental deal, mental retardation and even death. The disorders can not be cured but it can be treated to avoid or limit the complications.

The test must be timely. The first bloodspot test should be done between 24 and 36 hours of age or prior to discharge from the hospital. For some disorders, false negative results can occur with later testing. The second screen should be done at the first outpatient visit between 5 and 10 days of age.

The hearing test is done in the hospital and any re-screening should be done within 2 weeks and diagnostic testing should be done as soon as possible following the failed outpatient scree. Completing diagnostic testing before three months of age ensures that testing can be done without anesthesia or sedation.

The Arizona screening panel includes:
  • 6 amino acid disorders
  • fatty acid oxidation disorders
  • 9 organic acid disorders
  • Biotinidase deficiency
  • Classic galactosemia
  • Congenital Hypothyroidism
  • Congenital Adrenal Hyperplasia
  • 3 hemoglobin diseases
  • Cystic Fibrosis
  • Hearing loss

The incidence in the population is rare, but the potential devastating results and the high costs of treating undiagnosed infants is thought to justify the mass screening. Hearing loss is the most common approximately 2-4 per 1000 births,

Arizona Newborn Screening Program Guidelines-August 2010

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