Newborn Screening consists of critical laboratory and bedside tests done on newborns to see if they have certain inherited diseases. Early detection for these specific diseases is critical for the babies, doctors and parents, because delays in treatment can result in irreversible developmental delays, sickness and even death. With the passage of HB 2491 last year, the legislature asked the ADHS to consider adding Severe Combined Immunodeficiency (SCID) and Krabbe Disease to our newborn screening panel (we currently test for 28 disorders).
Wednesday afternoon our Newborn Screening Advisory Committee met to consider the costs and benefits of screening for SCID and Krabbe. The Committee recommended that we change our rules and begin testing for SCID. If I decide to proceed with their recommendation, we’d also need to get the authority to increase our testing fee by $10 so we can pay for the testing costs. Because the screening test for SCID is so reliable, we’d only need to test the first sample (taken at the hospital). We wouldn’t need a second follow-up sample like we do for the other 28 disorders. The committee didn’t make a recommendation one way or the other about Krabbe Disease.
We’re currently working on a rule revision to require hospital testing for heart defects (critical congenital heart defects) to our testing requirements. Some babies born with a heart defect look healthy at first but have complications later. Newborn screening (by pulse oximetry) estimates the amount of oxygen in a baby’s blood, and can identify some of these babies early so they can get quicker care and treatment.
Over the next couple of weeks I’ll examine the data, evidence, and the Advisory Committee’s recommendation. We’ll include any decision to add SCID and/or Krabbe in the draft rules already underway to add critical congenital heart defects. We expect to publish the draft rules in early November.