Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010-2018

The Recommended Uniform Screening Panel (RUSP) is the list of conditions recommended by the US Secretary of Health and Human Services for inclusion in state newborn screening (NBS). During 2010-2022, seven conditions were added to the RUSP: severe combined immunodeficiency (SCID) (2010), critical congenital heart disease (CCHD) (2011), glycogen storage disease, type II (Pompe) (2015), mucopolysaccharidosis, type I (MPS I) (2016), X-linked adrenoleukodystrophy (X-ALD) (2016), spinal muscular atrophy (SMA) (2018), and mucopolysaccharidosis, type II (MPS II) (2022). The adoption of SCID and CCHD newborn screening by programs in all 50 states and three territories (Washington, D.C.; Guam; and Puerto Rico) took 8.6 and 6.8 years, respectively. As of December 2022, 37 programs screen for Pompe, 34 for MPS I, 32 for X-ALD, and 48 for SMA. The pace of implementation based on the average additional number of NBS programs per year was most rapid for SMA (11.3), followed by CCHD (7.8), SCID (6.2), MPS I (5.4), Pompe (4.9), and X-ALD (4.7).

Automated summary

The Recommended Uniform Screening Panel (RUSP) is a list of conditions suggested by the US Secretary of Health and Human Services for newborn screening. From 2010 to 2022, seven conditions were added to the RUSP, including severe combined immunodeficiency (SCID), critical congenital heart disease (CCHD), glycogen storage disease, type II (Pompe), mucopolysaccharidosis, type I (MPS I), X-linked adrenoleukodystrophy (X-ALD), spinal muscular atrophy (SMA), and mucopolysaccharidosis, type II (MPS II). The implementation of SCID and CCHD screening took 8.6 and 6.8 years, respectively, by programs in all 50 states and three territories. As of December 2022, 37 programs screen for Pompe, 34 for MPS I, 32 for X-ALD, and 48 for SMA. The pace of implementation was fastest for SMA, followed by CCHD, SCID, MPS I, Pompe, and X-ALD, based on the average additional number of NBS programs per year.