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