Since 1987, the mission of the Foundation has been earliest possible diagnosis. Primary Immunodeficiency is a genetic condition that is chronic, serious, and sometimes life-threatening if not detected early on. Early diagnosis as a result of newborn screening helps to save lives! Today, we want to share more about the newborn screening process so that families know what to expect.
When a baby is 24-48 hours old, a blood sample is taken from the heel and sent to a state laboratory to be tested against a state-specific list of disorders in addition to the national core panel of 31 congenital disorders. We lobbied to add SCID to the national core panel for years, and finally, in 2010, the US Secretary of Health and Human Services recommended SCID to the National Core Panel.
If necessary, based on the results of the screening, parents and their baby will be referred to a specialist(s) for possible further testing and to coordinate an appropriate treatment plan. Nearly 4 million newborns are screened annually in the US alone.
The key to our mission of earliest possible diagnosis is to ensure proper treatment after newborn screening. Learn more about the core panel here: https://www.hrsa.gov/advisory-committees/heritable-disorders/rusp.