Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon
In October 2018, the Oregon newborn screening program began screening for four lysosomal storage disorders (LSDs) Pompe, Mucopolysaccharidosis Type I (MPSI), Gaucher, and Fabry. The laboratory used two different methodologies, digital microfluidics and tandem mass spectrometry, to measure the four L...
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Elsevier
2025-06-01
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| Series: | Molecular Genetics and Metabolism Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426925000369 |
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| author | Sarah Viall Patrice Held |
| author_facet | Sarah Viall Patrice Held |
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| description | In October 2018, the Oregon newborn screening program began screening for four lysosomal storage disorders (LSDs) Pompe, Mucopolysaccharidosis Type I (MPSI), Gaucher, and Fabry. The laboratory used two different methodologies, digital microfluidics and tandem mass spectrometry, to measure the four LSD enzyme activities. Accuracy and precision were improved and lower false positive rates were observed with use of the Revvity NeoLSD assay on the mass spectrometry platform, as compared to the Baebies digital microfluidics method. All newborn specimens with screen positive results were reflexed to a second-tier molecular assay to identify variants in the target gene. Over the first five years of screening, 139 cases were referred for confirmatory testing and clinical evaluation due to presence of pathogenic/likely pathogenic variant(s)or variant(s) of unknown significance. These identified newborns were evaluated at the Oregon Health & Science University (OHSU) metabolic clinic in Portland, Oregon. However, due to the COVID-19 pandemic, clinicians had to pivot from in-person to virtual visits and triage on acuity, which impacted the time to diagnosis. Of referred babies, 3 are currently receiving treatment for their detected LSD. Over 50 babies have an inconclusive or possible late onset diagnosis with uncertain timeline for development of symptoms. |
| format | Article |
| id | doaj-art-a8f0bffb51694781bbf4d58e43374e60 |
| institution | Kabale University |
| issn | 2214-4269 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | Elsevier |
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| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj-art-a8f0bffb51694781bbf4d58e43374e602025-08-20T03:31:06ZengElsevierMolecular Genetics and Metabolism Reports2214-42692025-06-014310122110.1016/j.ymgmr.2025.101221Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in OregonSarah Viall0Patrice Held1Dept of Molecular and Medical Genetics, Oregon Health & Science University, Portland, OR, United States; Corresponding author at: 3181 SW Sam Jackson Parkway, L-103, Portland, OR 97239, United States.Newborn Screening Program Manager, Oregon State Public Health Laboratory, Oregon Health Authority, Public Health Division, Hillsboro, OR, United StatesIn October 2018, the Oregon newborn screening program began screening for four lysosomal storage disorders (LSDs) Pompe, Mucopolysaccharidosis Type I (MPSI), Gaucher, and Fabry. The laboratory used two different methodologies, digital microfluidics and tandem mass spectrometry, to measure the four LSD enzyme activities. Accuracy and precision were improved and lower false positive rates were observed with use of the Revvity NeoLSD assay on the mass spectrometry platform, as compared to the Baebies digital microfluidics method. All newborn specimens with screen positive results were reflexed to a second-tier molecular assay to identify variants in the target gene. Over the first five years of screening, 139 cases were referred for confirmatory testing and clinical evaluation due to presence of pathogenic/likely pathogenic variant(s)or variant(s) of unknown significance. These identified newborns were evaluated at the Oregon Health & Science University (OHSU) metabolic clinic in Portland, Oregon. However, due to the COVID-19 pandemic, clinicians had to pivot from in-person to virtual visits and triage on acuity, which impacted the time to diagnosis. Of referred babies, 3 are currently receiving treatment for their detected LSD. Over 50 babies have an inconclusive or possible late onset diagnosis with uncertain timeline for development of symptoms.http://www.sciencedirect.com/science/article/pii/S2214426925000369Newborn screeningLysosomal storage disorders |
| spellingShingle | Sarah Viall Patrice Held Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon Molecular Genetics and Metabolism Reports Newborn screening Lysosomal storage disorders |
| title | Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon |
| title_full | Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon |
| title_fullStr | Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon |
| title_full_unstemmed | Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon |
| title_short | Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon |
| title_sort | five years of newborn screening for pompe mucopolysaccharidosis type i gaucher and fabry diseases in oregon |
| topic | Newborn screening Lysosomal storage disorders |
| url | http://www.sciencedirect.com/science/article/pii/S2214426925000369 |
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