Newborn screening for hepatorenal tyrosinemia-I by tandem mass spectrometry using pooled samples: A four-year summary by the New England newborn screening program

2013 ◽  
Vol 46 (7-8) ◽  
pp. 681-684 ◽  
Author(s):  
Thomas H. Zytkovicz ◽  
Inderneel Sahai ◽  
Amii Rush ◽  
Adedoyin Odewale ◽  
Donna Johnson ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
New England ◽  
Screening Program ◽  
Tandem Mass ◽  
Newborn Screening Program ◽  
Pooled Samples

scholarly journals Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI

2019 ◽  
Vol 205 ◽  
pp. 176-182 ◽  
Author(s):  
Min-Ju Chan ◽  
Hsuan-Chieh Liao ◽  
Michael H. Gelb ◽  
Chih-Kuang Chuang ◽  
Mei-Ying Liu ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Screening Program ◽  
Tandem Mass ◽  
Newborn Screening Program

scholarly journals Expanded newborn screening program in Slovenia using tandem mass spectrometry and confirmatory next generation sequencing genetic testing

2020 ◽  
Vol 59 (4) ◽  
pp. 256-263
Author(s):  
Barbka Repič Lampret ◽  
Žiga Iztok Remec ◽  
Ana Drole Torkar ◽  
Mojca Žerjav Tanšek ◽  
Andraz Šmon ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Next Generation Sequencing ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Screening Program ◽  
Tandem Mass ◽  
Next Generation ◽  
Newborn Screening Program ◽  
Expanded Newborn Screening ◽  
Generation Sequencing

AbstractIntroductionIn the last two decades, the introduction of tandem mass spectrometry in clinical laboratories has enabled simultaneous testing of numerous acylcarnitines and amino acids from dried blood spots for detecting many aminoacidopathies, organic acidurias and fatty acid oxidation disorders. The expanded newborn screening was introduced in Slovenia in September 2018. Seventeen metabolic diseases have been added to the pre-existing screening panel for congenital hypothyroidism and phenylketonuria, and the newborn screening program was substantially reorganized and upgraded.MethodsTandem mass spectrometry was used for the screening of dried blood spot samples. Next-generation sequencing was introduced for confirmatory testing. Existing heterogeneous hospital information systems were connected to the same laboratory information system to allow barcode identification of samples, creating reports, and providing information necessary for interpreting the results.ResultsIn t he first y ear of t he expanded newborn screening a total of 15,064 samples w ere screened. Four patients were confirmed positive with additional testing.ConclusionsAn expanded newborn screening program was successfully implemented with the first patients diagnosed before severe clinical consequences.

New England Consortium: A model for medical evaluation of expanded newborn screening with tandem mass spectrometry

2001 ◽  
Vol 24 (2) ◽  
pp. 303-304 ◽  
Author(s):  
S. Albers ◽  
S. E. Waisbren ◽  
M. G. Ampola ◽  
T. G. Brewster ◽  
L. W. Burke ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
New England ◽  
Tandem Mass ◽  
Medical Evaluation ◽  
Expanded Newborn Screening

scholarly journals How to Choose Diseases for Newborn Screening by Tandem Mass Spectrometry Under the Nationally Recommended Program in Shenzhen, China Evidence From a Cost-Effectiveness Analysis

2021 ◽  
Author(s):  
Mingren Yu ◽  
Juan Xu ◽  
Xiaohong Song ◽  
Jiayue Du
Keyword(s):  
Mass Spectrometry ◽  
Cost Effectiveness ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Screening Program ◽  
Cost Effective ◽  
Tandem Mass ◽  
National Program ◽  
Screening Programs ◽  
The Cost

Abstract Background: Newborn screening (NBS) can prevent inborn errors of metabolism (IEMs), which may cause long-term disability and even death in newborns. However, in China, tandem mass spectrometry (MS/MS) screening has just started. This study is to determine the cost-effectiveness of NBS using MS/MS in Shenzhen under the nationally recommended program, and determine IEMs for detection.Methods: A Markov model was built to estimate the cost and quality-adjusted life-years (QALYs) of different screening programs. The current screening program and nationally recommended program were compared and we also compared the programs detecting different numbers of IEMs, which are chosen from the national program. A sensitivity analysis and budget impact analysis (BIA) were performed.Results: The incremental cost-effectiveness ratio (ICER) of detecting all 12 IEMs in the national program is 277,823 RMB per QALY, below three times per capita GDP in Shenzhen. MS/MS screening in Shenzhen can be cost-effective only if at least three diseases (PKU, PCD and MMA) are covered and when the screening program covers five diseases (PKU, PCD, MMA, MSUD, IVA), the ICER closely approaches its critical value. The BIA indicated the implementation cost of the national program to be around 580 million RMB over 10 years and showed no difference in budget between programs detecting different numbers of IEMs. Conclusions: We conclude that the newborn screening using MS/MS in Shenzhen is cost-effective, and the budget affordable for the Shenzhen government. Two concepts for selecting the IEMs to be detected, which we label the “ICER maximization idea” and the “ICER validation idea” are also presented.

Newborn screening and molecular features of patients with multiple acyl-CoA dehydrogenase deficiency in Quanzhou, China

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Yiming Lin ◽  
Weifeng Zhang ◽  
Zhixu Chen ◽  
Chunmei Lin ◽  
Weihua Lin ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Genetic Analysis ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Dehydrogenase Deficiency ◽  
Late Onset ◽  
False Negative ◽  
Tandem Mass ◽  
Lipid Storage Myopathy ◽  
Molecular Features

Abstract Objectives Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid, amino acid and choline metabolism. Late-onset MADD is caused by ETFDH mutations and is the most common lipid storage myopathy in China. However, few patients with MADD have been identified through newborn screening (NBS). This study assessed the acylcarnitine profiles and molecular features of patients with MADD identified through NBS. Methods From January 2014 to June 2020, 479,786 newborns screened via tandem mass spectrometry were recruited for this study. Newborns with elevated levels of multiple acylcarnitines were recalled, those who tested positive in the reassessment were referred for genetic analysis. Results Of 479,786 newborns screened, six were diagnosed with MADD. The MADD incidence in the Chinese population was estimated to be 1:79,964. Initial NBS revealed five patients with typical elevations in the levels of multiple acylcarnitines; however, in one patient, acylcarnitine levels were in the normal reference range during recall. Notably, one patient only exhibited a mildly increased isovalerylcarnitine (C5) level at NBS. The patient with an atypical acylcarnitine profile was diagnosed with MADD by targeted gene sequencing. Six distinct ETFDH missense variants were identified, with the most common variant being c.250G>A (p.A84T), with an allelic frequency of 58.35 (7/12). Conclusions These findings revealed that it is easy for patients with MADD to go unidentified, as they may have atypical acylcarnitine profiles at NBS and the recall stage, indicating the value of genetic analysis for confirming suspected inherited metabolic disorders in the NBS program. Therefore, false-negative (FN) results may be reduced by combining tandem mass spectrometry (MS/MS) with genetic testing in NBS for MADD.

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.

scholarly journals Comparison of tandem mass spectrometry to fluorimetry for newborn screening of LSDs

2017 ◽  
Vol 12 ◽  
pp. 80-81 ◽  
Author(s):  
Michael H. Gelb ◽  
C. Ronald Scott ◽  
Frantisek Turecek ◽  
Hsuan-Chieh Liao
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Tandem Mass

scholarly journals The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry

2014 ◽  
Vol 88 ◽  
pp. 201-206 ◽  
Author(s):  
Giancarlo la Marca ◽  
Elisa Giocaliere ◽  
Sabrina Malvagia ◽  
Silvia Funghini ◽  
Daniela Ombrone ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Newborn Screening ◽  
Tandem Mass ◽  
Expanded Newborn Screening
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