There is no more fitting way to celebrate September as National Newborn Screening Awareness Month than to acknowledge the progress made in Pennsylvania this past year.
In fall 2020, the Pennsylvania legislature passed a bill mandating that hospitals, birthing centers, and midwives test every newborn baby for all 61 conditions on the Recommended Uniform Screening Panel, or RUSP. The RUSP is a list of disorders that the Secretary of Health and Human Services recommends for states to screen as part of their universal newborn screening program.
Among those many critical conditions now mandated for testing in Pennsylvania is severe combined immunodeficiency, or SCID, a primary immunodeficiency that is fatal for infants unless identified and treated early in life.
Prior to this legislation, Pennsylvania screened, by law, ten conditions listed on its mandatory screening panel. The decision to screen for the remaining RUSP conditions, listed on a supplemental panel, was left to the hospital, birth facility, or midwife to determine, which leads to a disparity of care.
Now, every baby will be screened for the same genetic and metabolic conditions, regardless of birth setting.
This new law most assuredly saves babies’ lives. Consider the newborn screening statistics last year in Pennsylvania.
In 2020, prior to the legislation, 88 hospitals or birthing centers and 106 midwives delivered 133,910 babies born in Pennsylvania. Of those hospitals, birthing centers, and midwives, 53 midwives only screened for the ten mandatory conditions, which didn’t include SCID. Those midwives delivered a total of 1,277 babies.
In addition, six hospital and birthing centers and 18 midwives elected to screen for all of the disorders on the RUSP except for SCID. That accounted for 4,970 births.
That’s 6,240 babies – or 4.7 percent of infants born in Pennsylvania in 2020 – not screened for SCID.
While it is unclear exactly which regions in Pennsylvania chose not to screen for SCID, the legislation will definitely impact midwives who previously chose not to screen for SCID.
In addition to the 61 metabolic and genetic conditions on the RUSP, the legislation also mandates testing for Krabbe Disease, hearing disorders, and congenital and critical heart disease, which means mandatory conditions tested in newborns in Pennsylvania have grown from 10 to 64.
With the addition of Pennsylvania, all 50 states in the U.S. now mandate that SCID be included in newborn screening panels, an achievement supported by IDF and other partners during a campaign lasting over a decade.