State begins newborn screening for life-threatening immunodeficiencies

The Hawaii State Department of Health has added Severe Combined Immunodeficiency (SCID) to the state newborn screening panel.

With this addition, Hawaii is universally screening for all disorders on the U.S. Department of Health and Human Service Recommended Uniform Screening Panel.

“While this condition is rare, it can have serious life-threatening consequences for newborn infants,” said Sylvia Mann, DOH Genomics Section Supervisor. “Fortunately, early screening can identify this and other inherited conditions, giving newborns a chance for life-saving treatment.”

SCID is the name for a group of inherited disorders that cause babies to be born without a working immune system. Newborns with SCID may seem healthy at first because their mother’s immune system protects them from infections for the first few weeks of life. However, without necessary treatment, common infections and vaccines can be life threatening to these infants.

Early detection and treatment is essential for these babies to survive. Treatment is a bone marrow transplant or gene therapy.

In order to ensure the babies born in Hawaii have access to the life-saving treatment options, a federally funded partnership between Kapiolani Medical Center for Women and Children, the University of California at Los Angeles Mattel’s Children’s Hospital and the Hawaii Department of Health has been created.

SCID newborn screening is done by bloodspot alongside the other 32 disorders already screened for in Hawaii. Bloodspot newborn screening samples are collected within 24-48 hours after birth and tested. It is important to remember that newborn screening is only a screening test and cannot diagnose SCID. Follow-up testing is necessary to confirm a suspected diagnosis.

To learn more about SCID and the Hawaii Newborn Screening Program, click here.

The Department of Health Hawaii Newborn Metabolic Screening Program has been in existence since 1986.

Until Aug. 31, 2003, the program tested babies born in Hawaii for seven conditions: PKU, galactosemia, congenital hypothyroidism, congenital adrenal hyperplasia, maple syrup urine disease, biotinidase deficiency, and hemoglobinopathies. Beginning in September 2003, the program tested babies born in Hawaii for 31 metabolic disorders through expanded newborn screening using tandem mass spectrometry. Screening for cystic fibrosis began in 2006 which expanded the newborn screening blood spot test panel to 32 disorders.

Babies born in Hawaii also receive newborn screening hearing loss and critical congenital heart defects.

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