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Office of Newborn Screening
For most types of genetic or metabolic disease, early diagnosis and treatment are critical. Although babies born with these disorders may appear to be normal at birth, with time the disorder may have a devastating or lethal effect on the infant's health and development. Early screening, detection and treatment of these disorders can, in many cases, result in normal growth and development.
Arizona has been conducting widespread newborn screening for certain disorders since 1979. A laboratory in Colorado originally performed screening tests for Arizona newborns.
In 1993, the Arizona Legislature enacted legislation requiring the Arizona Department of Health Services to develop and administer a formal Office of Newborn Screening. The Office of Newborn Screening was created and is now housed in the Bureau of State Laboratory Services, in the Division of Public Health Services. The Program has enabled the Department to enhance its public health role in the newborn screening process, obtain more timely results from screening, and promote better follow-up for suspected or confirmed cases.
In 2006 the Office of Newborn Screening expanded its panel of screened disorders to twenty-seven disorders (27) with the addition of tandem mass spectrometry testing and added follow-up for hearing screening to follow-up done for bloodspot disorders. Cystic fibrosis screening was added in October, 2007, completing the panel of twenty-nine disorders.
The panel of twenty-nine screened disorders (including hearing loss) was recommended by the U.S Department of Health and Human Services (HHS) Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) as the original Uniform Screening Panel. In May, 2010 the Secretary added severe combined immunodeficiency (SCID) to the panel but Arizona does not yet screen for SCID.
The Advisory Committee to the Office of Newborn Screening endorsed the original panel and Rules were written to allow the program to adopt this list of disorders. These disorders were selected because their detection and treatment in the newborn period is effective in preventing severe morbidity or mortality and a reliable, reasonably priced test can be used for screening.
For a short description of the Arizona panel of disorders and incidental findings, see the Panel of 29 Disorders.
For most of these disorders, the incidence in the population is rare, but the potential for devastating consequences and the high costs of treating undiagnosed infants who do have the disorders is thought to justify mass screening. Hearing loss is the most common, occurring in approximately 2 - 4 per 1,000 births.
The Arizona State Laboratory is now designated as the sole testing facility for the program. Fees charged for the testing are used to support the operation of the Office of Newborn Screening.
The goals of the Arizona Office of Newborn Screening are:
- To identify newborns with certain, rare disorders and assist families of affected infants so that they receive appropriate and timely treatment to prevent or delay serious medical problems.
- To identify possible hearing loss before one month of age and link families with appropriate assessment and intervention.
- To ensure that all newborns referred for a follow-up hearing screen prior to discharge return for an outpatient screen and receive appropriate assessment by three months of age and intervention by six months of age.