NEWBORN METABOLIC SCREENING PROGRAM

Overview of program
NBS practitioners' manual
Brochure
Disorders tested
Expanded Screening

The Department of Health Hawaii Newborn Metabolic Screening Program has been in existence since 1986. Until August 31, 2003, the Newborn Metabolic Screening Program tested babies born in Hawaii for seven conditions: PKU, galactosemia, congenital hypothyroidism, congenital adrenal hyperplasia, maple syrup urine disease, biotinidase deficiency, and hemoglobinopathies.

Since September 1, 2003, the Department of Health’s Newborn Metabolic Screening Program has tested all babies born in Hawaii for 31 metabolic disorders through expanded newborn screening using tandem mass spectrometry.

Tandem Mass Spectrometry (MS/MS) enables health-care providers to detect an increased number of metabolic disorders in a single process by using dried blood spot specimens routinely collected for newborn screening. MS/MS allows screening of 31 metabolic disorders using a single analytical run and can detect these disorders within 1 to 2 minutes.

Please note that financially eligible families who have no other resources may receive financial assistance for newborn screening through Children with Special Health Needs Branch. Comprehensive medical and care coordination services are available for children diagnosed with the disorders detected through newborn screening if families meet CSHNB guidelines.

Our statute:
Section 321-291, Hawaii Revised Statutes

Our administrative rules:
http://hawaii.gov/health/family-child-health/genetics/newpdf/administrativerules122608.pdf
Note that these rules are in pdf format.

Statewide newborn screening statistics
July 1997-April 2009
Note that these reports are in pdf format.

Coming soon: Newborn Metabolic Screening Advisory Committee Minutes.