scholarly journals Algorithm for Pompe disease newborn screening: Results from the Taiwan screening program

2012 ◽  
Vol 106 (3) ◽  
pp. 281-286 ◽  
Author(s):  
Shu-Chuan Chiang ◽  
Wuh-Liang Hwu ◽  
Ni-Chung Lee ◽  
Li-Wen Hsu ◽  
Yin-Hsiu Chien
Keyword(s):  
Newborn Screening ◽  
Pompe Disease ◽  
Screening Program

scholarly journals Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction

2020 ◽  
Vol 6 (1) ◽  
pp. 2 ◽  
Author(s):  
Patricia L. Hall ◽  
Rossana Sanchez ◽  
Arthur F. Hagar ◽  
S. Caleb Jerris ◽  
Angela Wittenauer ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Pompe Disease ◽  
Late Onset ◽  
Screening Program ◽  
Molecular Testing ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Analytical Tools ◽  
Mps I

We conducted a pilot newborn screening (NBS) study for Pompe disease (PD) and mucopolysaccharidosis type I (MPS I) in the multiethnic population of Georgia. We screened 59,332 infants using a two-tier strategy of flow injection tandem mass spectrometry (FIA-MSMS) enzyme assays. The first tier of testing was a 2-plex assay measuring PD and MPS I enzyme activity, followed by a second-tier test with additional enzymes to improve specificity. Interpretation of results was performed using post-analytical tools created using Collaborative Laboratory Integrated Reports (CLIR). We identified a single case of infantile onset PD, two cases of late onset PD, and one pseudodeficiency. The positive predictive value (PPV) for PD screening during the study was 66.7%. No cases of MPS I were identified during the study period, but there were 2 confirmed cases of pseudodeficiency and 6 cases lost to follow up. The two-tier screening strategy was successful in reducing false positive results and allowed for the identification and early treatment of a case of infantile PD but the frequency of pseudodeficiency in MPS I is problematic. Molecular testing is required and should be covered by the screening program to avoid delays in case resolution.

A large-scale nationwide newborn screening program for pompe disease in Taiwan: Towards effective diagnosis and treatment

2013 ◽  
Vol 164 (1) ◽  
pp. 54-61 ◽  
Author(s):  
Chia-Feng Yang ◽  
Hao-Chuan Liu ◽  
Ting-Rong Hsu ◽  
Fang-Chih Tsai ◽  
Sheng-Fong Chiang ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Pompe Disease ◽  
Large Scale ◽  
Screening Program ◽  
Diagnosis And Treatment ◽  
Newborn Screening Program ◽  
Effective Diagnosis

Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results From the Taiwan Screening Program

PEDIATRICS ◽  
2008 ◽  
Vol 122 (1) ◽  
pp. e39-e45 ◽  
Author(s):  
Y.-H. Chien ◽  
S.-C. Chiang ◽  
X. K. Zhang ◽  
J. Keutzer ◽  
N.-C. Lee ◽  
...  
Keyword(s):  
Early Detection ◽  
Newborn Screening ◽  
Pompe Disease ◽  
Screening Program

scholarly journals Adrenoleukodystrophy Newborn Screening in California Since 2016: Programmatic Outcomes and Follow-Up

2021 ◽  
Vol 7 (2) ◽  
pp. 22
Author(s):  
Jamie Matteson ◽  
Stanley Sciortino ◽  
Lisa Feuchtbaum ◽  
Tracey Bishop ◽  
Richard S. Olney ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Program Implementation ◽  
Screening Program ◽  
Birth Prevalence ◽  
Variant Of Uncertain Significance ◽  
Implementation Challenges ◽  
Screening Programs ◽  
Uncertain Significance ◽  
Long Term Follow Up

X-linked adrenoleukodystrophy (ALD) is a recent addition to the Recommended Uniform Screening Panel, prompting many states to begin screening newborns for the disorder. We provide California’s experience with ALD newborn screening, highlighting the clinical and epidemiological outcomes observed as well as program implementation challenges. In this retrospective cohort study, we examine ALD newborn screening results and clinical outcomes for 1,854,631 newborns whose specimens were received by the California Genetic Disease Screening Program from 16 February 2016 through 15 February 2020. In the first four years of ALD newborn screening in California, 355 newborns screened positive for ALD, including 147 (41%) with an ABCD1 variant of uncertain significance (VUS) and 95 males diagnosed with ALD. After modifying cutoffs, we observed an ALD birth prevalence of 1 in 14,397 males. Long-term follow-up identified 14 males with signs of adrenal involvement. This study adds to a growing body of literature reporting on outcomes of newborn screening for ALD and offering a glimpse of what other large newborn screening programs can expect when adding ALD to their screening panel.

scholarly journals Massachusetts’ Findings from Statewide Newborn Screening for Spinal Muscular Atrophy

2021 ◽  
Vol 7 (2) ◽  
pp. 26
Author(s):  
Jaime E. Hale ◽  
Basil T. Darras ◽  
Kathryn J. Swoboda ◽  
Elicia Estrella ◽  
Jin Yun Helen Chen ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Newborn Screening ◽  
New England ◽  
Screening Program ◽  
Muscular Atrophy ◽  
Treatment Options ◽  
Newborn Screening Program ◽  
Treatment Protocols ◽  
Screening Algorithm ◽  
New Treatment

Massachusetts began newborn screening (NBS) for Spinal Muscular Atrophy (SMA) following the availability of new treatment options. The New England Newborn Screening Program developed, validated, and implemented a screening algorithm for the detection of SMA-affected infants who show absent SMN1 Exon 7 by Real-Time™ quantitative PCR (qPCR). We screened 179,467 neonates and identified 9 SMA-affected infants, all of whom were referred to a specialist by day of life 6 (average and median 4 days of life). Another ten SMN1 hybrids were observed but never referred. The nine referred infants who were confirmed to have SMA were entered into treatment protocols. Early data show that some SMA-affected children have remained asymptomatic and are meeting developmental milestones and some have mild to moderate delays. The Massachusetts experience demonstrates that SMA NBS is feasible, can be implemented on a population basis, and helps engage infants for early treatment to maximize benefit.

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