Newborn screening for mucopolysaccharidosis type II: Lessons learned.

We describe our experience with population-based newborn screening for mucopolysaccharidosis type II (MPS II) in 586,323 infants by measurement of iduronate-2-sulfatase activity in dried blood spots between December 12, 2017 and April 30, 2022. A total of 76 infants were referred for diagnostic testing, 0.01% of the screened population. Of these, eight cases of MPS II were diagnosed for an incidence of 1 in 73,290. At least four of the eight cases detected had an attenuated phenotype. In addition, cascade testing revealed a diagnosis in four extended family members. Fifty-three cases of pseudodeficiency were also identified, for an incidence of 1 in 11,062. Our data suggest that MPS II may be more common than previously recognized with a higher prevalence of attenuated cases.

Utilizing Public Health Frameworks and Partnerships to Ensure Equity in DNA-Based Population Screening.

DNA-Based population screening in the United States has the promise to improve the health of all people in all communities. We highlight recent DNA-based population screening examples at the state, local, and individual level. Key public health principles and concepts with a focus on equity appear to be lacking in current efforts. We request 'A Call to Action' that involves all partners in DNA-based population screening. Potential actions to consider include: a) identification and elimination of systemic barriers that result in health inequities in DNA-based population screening and follow-up; b) creation of a national multidisciplinary advisory committee with representation from underserved communities; c) revisiting well-described public health screening principles and frameworks to guide new screening decisions and initiatives; d) inclusion of the updated Ten Essential Public Health Services with equity at the core in efforts at the local, state and national level.

Newborn Screening for X-Linked Adrenoleukodystrophy: The Initial Illinois Experience.

X-linked adrenoleukodystrophy (X-ALD) is a genetic neurodegenerative disorder with an approximate incidence of 1 in 14,700 births. Both males and females are affected. Approximately one-third of affected males develop childhood cerebral adrenoleukodystrophy, which progresses rapidly to severe disability and death. In these cases, early surveillance and treatment can be lifesaving, but only if initiated before the onset of neurologic symptoms. Therefore, X-ALD was added to the Recommended Uniform Screening Panel. We report outcomes of the initial screening of approximately 276,000 newborns in Illinois. The lipid C26:0 lysophosphatidylcholine (C26:0-LPC) was measured in dried blood spots (DBS) using liquid chromatography with tandem mass spectrometry. Results ≥ 0.28 µmol/L were considered screen positive. Of 18 screen positive results detected, 12 cases were confirmed. Results were reported as borderline if initial and repeat analyses were ≥0.18 and <0.28 µmol/L. Of the 73 borderline screen results, 57 were normal after analysis of a second sample. Five X-ALD cases were identified from borderline screens. Newborn screening of X-ALD was successfully implemented in Illinois, and results were comparable to reports from other states. Early identification of infants with this potentially life-threatening disorder will significantly improve outcomes for these children.