Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI

Ames, Elizabeth G.; Fisher, Rachel; Kleyn, Mary; Ahmad, Ayesha

doi:10.3390/ijns6030072

Cited by 13 publications

(8 citation statements)

References 32 publications

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“…Thus, advocacy for the addition of newborn screening for MPS led to the addition of MPS I by the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) to the Recommended Uniform Screening Panel (RUSP) in February of 2016 [ 10 , 11 ]. Missouri was the first state to screen for MPS I [ 12 ], followed by several other states, and the state of Illinois has also started the screening of MPS II in 2017 [ 13 , 14 , 15 ], followed by Missouri in 2019.…”

Section: Introductionmentioning

confidence: 99%

Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives

Kubaski

Sousa

Amorim

et al. 2020

IJNS

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Newborn screening enables the diagnosis of treatable disorders at the early stages, and because of its countless benefits, conditions have been continuously added to screening panels, allowing early intervention, aiming for the prevention of irreversible manifestations and even premature death. Mucopolysaccharidoses (MPS) are lysosomal storage disorders than can benefit from an early diagnosis, and thus are being recommended for newborn screening. They are multisystemic progressive disorders, with treatment options already available for several MPS types. MPS I was the first MPS disorder enrolled in the newborn screening (NBS) panel in the USA and a few other countries, and other MPS types are expected to be added. Very few studies about NBS for MPS in Latin America have been published so far. In this review, we report the results of pilot studies performed in Mexico and Brazil using different methodologies: tandem mass spectrometry, molecular analysis, digital microfluidics, and fluorimetry. These experiences are important to report and discuss, as we expect to have several MPS types added to NBS panels shortly. This addition will enable timely diagnosis of MPS, avoiding the long diagnostic odyssey that is part of the current natural history of this group of diseases, and leading to a better outcome for the affected patients.

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Section: Introductionmentioning

confidence: 99%

Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives

Kubaski

Sousa

Amorim

et al. 2020

IJNS

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“…Biochemical genetics testing by analysis of glycosaminoglycans (GAGs) in DBS [ 23 ] is primarily utilized to detect severe MPS I (Hurler syndrome), which is the main target of NBS, and may be sufficiently sensitive to detect at least some cases of attenuated MPS I [ 24 ]. Molecular testing, performed either as a 2TT or after case referral for follow-up testing, appears to be the preferred option in the United States for short-term follow-up of presumptive positives, regardless of the platform used for LSD enzyme testing [ 25 ].…”

Section: Prospective Screening Results From States Using Dmfmentioning

confidence: 99%

Digital Microfluidics in Newborn Screening for Mucopolysaccharidoses: A Progress Report

Washburn

Millington

2020

IJNS

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Newborn screening (NBS) for mucopolysaccharidosis type I (MPS I, Hurler syndrome) is currently conducted in about two-fifths of the NBS programs in the United States and in a few other countries. Screening is performed by measurement of residual activity of the enzyme alpha-l-iduronidase in dried blood spots using either tandem mass spectrometry or digital microfluidic fluorometry (DMF). In this article, we focus on the development and practical experience of using DMF to screen for MPS I in the USA. By means of their responses to a questionnaire, we determined for each responding program that is screening for MPS I using DMF the screen positive rate, follow-up methods, and classification of confirmed cases as either severe or attenuated. Overall, the results show that at the time of reporting, over 1.3 million newborns in the US were screened for MPS I using DMF, 2094 (0.173%) of whom were screen positive. Of these, severe MPS I was confirmed in five cases, attenuated MPS I was confirmed in two cases, and undetermined phenotype was reported in one case. We conclude that DMF is an effective and economical method to screen for MPS I and recommend second-tier testing owing to high screen positive rates. Preliminary results of NBS for MPS II and MPS III using DMF are discussed.

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“…We additionally found that states with a larger Native American population screen for a significantly lower number of Lysosomal storage disorders. This is a notable finding because Lysosomal storage disorders, such as Pompe disease and Mucopolysaccharidosis type I, which were recently added to the RUSP, are screened for by two methods, “mass spectrometry (MS/MS) and digital microfluidics fluorimetry (DMF-F),” with MS/MS providing better precision ( 20 , 21 ). Lysosomal storage disorders are generally screened for by analyzing enzymatic activity from the dried blood spots collected for the NBS, but this method frequently returns high false positives, which require follow-up testing and care required to achieve accurate results ( 20 ).…”

Section: Discussionmentioning

confidence: 99%

Assessing interstate racial and socioeconomic disparities in newborn screening policies in the United States

Bedford,

Vachuska

2024

Front. Public Health

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IntroductionThis paper explores racial and socioeconomic disparities in newborn screening (NBS) policies across the United States. While inter-state inequality in healthcare policies is often considered a meaningful source of systemic inequity in healthcare outcomes, to the best of our knowledge, no research has explored racial and socioeconomic disparities in newborn screening policies based on state of residence.MethodsWe investigate these disparities by calculating weighted average exposure to specific NBS tests by racial and socioeconomic group. We additionally estimate count models of the number (and type) of NBS conditions screened for by state racial and socioeconomic composition.ResultsAdding to the knowledge base that social determinants of health and health disparities are linked, our analysis surprisingly reveals little evidence of substantial inter-state inequity in newborn screenings along racial and socioeconomic lines.DiscussionWhile there is substantial nationwide racial and socioeconomic inequity in terms of infant health, the distribution of state-level policies does not appear to be structured in a manner to be a driver of these disparities. Our findings suggest that efforts to reduce inequities in outcomes related to NBS should shift focus toward the delivery of screening results and follow-up care as discussion builds on expanding NBS to include more conditions and genomic testing.

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Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI

Cited by 13 publications

References 32 publications

Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives

Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives

Digital Microfluidics in Newborn Screening for Mucopolysaccharidoses: A Progress Report

Assessing interstate racial and socioeconomic disparities in newborn screening policies in the United States

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