scholarly journals Results of neonatal screening for hereditary metabolic diseases in the Republic of Kazakhstan for 2019 year

2020 ◽  
pp. 76-77
Author(s):  
А.С. Святов ◽  
А.В. Муртазалиева ◽  
Г.С. Святова ◽  
М.С. Кирикбаева
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Neonatal Screening ◽  
Metabolic Diseases ◽  
Screening Program ◽  
Pilot Project ◽  
Hereditary Diseases ◽  
Tandem Mass ◽  
Hereditary Metabolic Diseases ◽  
The Republic

Массовое обследование новорождённых в программе неонатального скрининга в Республике Казахстан проводится на 2 наследственных заболевания - фенилкетонурию и врожденный гипотиреоз. В 2019 году был проведен пилотный проект исследований методом тандемной масс-спектрометрии 1000 детей до 1 года на 49 наследственных болезней обмена. Mass examination of newborns in the neonatal screening program in the Republic of Kazakhstan is carried out for 2 hereditary diseases - phenylketonuria and congenital hypothyroidism. In 2019 pilot project was conducted for 1000 studies using tandem mass spectrometry of children under age of 1 year for 49 hereditary metabolic diseases.

scholarly journals Economics of tandem mass spectrometry screening of neonatal inherited disorders

2006 ◽  
Vol 22 (3) ◽  
pp. 321-326 ◽  
Author(s):  
Abdullah Pandor ◽  
Joe Eastham ◽  
James Chilcott ◽  
Suzy Paisley ◽  
Catherine Beverley
Keyword(s):  
Mass Spectrometry ◽  
Cost Effectiveness ◽  
Tandem Mass Spectrometry ◽  
Neonatal Screening ◽  
Screening Program ◽  
Tandem Ms ◽  
Tandem Mass ◽  
Mcad Deficiency ◽  
Life Years ◽  
Neonatal Screening Program

Objectives:The aim of this study was to evaluate the cost-effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).Methods:A systematic review of clinical efficacy evidence and cost-effectiveness modeling of screening in newborn infants within a UK National Health Service perspective was performed. Marginal costs, life-years gained, and cost-effectiveness acceptability curves are presented.Results:Substituting the use of tandem MS for existing technologies for the screening of PKU increases costs with no increase in health outcomes. However, the addition of screening for MCAD deficiency as part of a neonatal screening program for PKU using tandem MS, with an operational range of 50,000 to 60,000 specimens per system per year, would result in a mean incremental cost of −£17,298 (−£129,174, £66,434) for each cohort of 100,000 neonates screened. This cost saving is associated with a mean incremental gain of 57.3 (28.0, 91.4) life-years.Conclusions:Cost-effectiveness analysis using economic modeling indicates that substituting the use of tandem MS for existing technologies for the screening of PKU alone is not economically justified. However, the addition of screening for MCAD deficiency as part of a neonatal screening program for PKU using tandem MS would be economically attractive.

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 The role of tandem mass spectrometry in the diagnosis of inherited metabolic diseases

2018 ◽  
Vol 5 (3) ◽  
pp. 96-105 ◽  
Author(s):  
G. V. Baydakova ◽  
T. A. Ivanova ◽  
E. Yu. Zakharova ◽  
O. S. Kokorina
Keyword(s):  
Mass Spectrometry ◽  
Fatty Acid ◽  
Tandem Mass Spectrometry ◽  
Fatty Acid Oxidation ◽  
Metabolic Diseases ◽  
Acid Oxidation ◽  
Tandem Mass ◽  
Organic Acidurias ◽  
Inherited Metabolic Diseases ◽  
Screening Programs

This paper reviews the clinical applications of tandem mass spectrometry in diagnosis and screening for inherited metabolic diseases. The broad-spectrum of diseases covered, specificity, ease of sample preparation, and high throughput provided by the MS/MS technology has led to the development of multi-disorder newborn screening programs in many countries for amino acid disorders, organic acidurias, and fatty acid oxidation defects. The application of MS/MS in selective screening has revolutionized the field and made a major impact on the detection of certain disease classes such as the fatty acid oxidation defects. New specific and rapid tandem mass spectrometry (MS/MS) and high performance liquid chromatography–MS/MS methods are supplementing or replacing some of the classical gas chromatography– MS/MS methods for a multitude of metabolites and disorders. In the near future, we should expect the emergence of new promising methods for diagnosing not only individual nosologic forms, but also entire groups of inherited metabolic diseases.

MODELS AND METHODS OF INFORMATION TECHNOLOGY OF ADVANCED NEONOTAL SCREENING

2021 ◽  
Vol 6 ◽  
pp. 129-147
Author(s):  
Yekaterina Kovalоva ◽  
◽  
Vladimir Lyfar ◽  
◽  
Keyword(s):  
Information Technology ◽  
Neonatal Screening ◽  
Metabolic Diseases ◽  
Block Diagram ◽  
Information Model ◽  
Blood Analysis ◽  
Hereditary Diseases ◽  
Information Support ◽  
Information Flows ◽  
Hereditary Metabolic Diseases

The paper considers the problems of informational implementation of neonatal screening of newborns in order to improve the overall picture of the nation's health and prevent the development of hereditary diseases. The methodology for solving the problems of complete neonatal screening is based on the methods and mathematical apparatus of discrete mathematics, web technologies, data warehouses, and data mining methods. An information model of the dynamic processes of neonatal screening is proposed, based on the specific processing of data presented by a tuple, which contains coherent sequential processes for obtaining the results of tests for blood analysis of newborns, conducting genetic studies and determining pathologies and deviations from an expanded list (currently up to 44 indicators for the purpose of exiting for more than 60). The block diagram of information support of information technology in the decision support system for carrying out neonatal screening of hereditary metabolic diseases is presented. On the basis of LLC «CDC «PHARMBIOTEST», the research of the algorithm for performing sequential procedures of neonatal screening was carried out. The described algorithm of actions has been tested and fully tested for the continuity of information flows, the stability of the information model graph. As a result of the research, the sufficiency and completeness of the chronological indicators of the processing of information flows have been proved. The criteria for confirming the authenticity of methods for obtaining a diagnosis have been developed.

California's Experience Implementing a Pilot Newborn Supplemental Screening Program Using Tandem Mass Spectrometry

PEDIATRICS ◽  
2006 ◽  
Vol 117 (Supplement 3) ◽  
pp. S261-S269 ◽  
Author(s):  
Lisa Feuchtbaum ◽  
Fred Lorey ◽  
Lisa Faulkner ◽  
John Sherwin ◽  
Robert Currier ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Screening Program ◽  
Tandem Mass

Newborn Screening for Sickle Cell Disease Using Tandem Mass Spectrometry

2008 ◽  
Vol 54 (12) ◽  
pp. 2036-2041 ◽  
Author(s):  
François Boemer ◽  
Olivier Ketelslegers ◽  
Jean-Marc Minon ◽  
Vincent Bours ◽  
Roland Schoos
Keyword(s):  
Mass Spectrometry ◽  
Sickle Cell Disease ◽  
Tandem Mass Spectrometry ◽  
Isoelectric Focusing ◽  
Neonatal Screening ◽  
Limit Of Detection ◽  
Tandem Mass ◽  
Cell Disease ◽  
Hb E ◽  
Hb S

Abstract Background: Neonatal screening programs for sickle cell disease are now widespread in North American and European countries. Most programs apply isoelectric focusing or HPLC to detect hemoglobin variants. Because tandem mass spectrometry (MS/MS) is being used for screening of inherited metabolic disorders and allows protein identification, it was worth testing for hemoglobinopathy screening. Methods: We minimized sample preparation and analysis times by avoiding prior purification, derivatization, or separation. We developed a tryptic digestion methodology to screen for the main clinically important variants (Hb S, Hb C, and Hb E) and β-thalassemia. To ensure proper discrimination between homozygote and heterozygote variants, we selected 4 transitions with good signal intensities for each specific peptide and calculated variant/Hb A ratios for each. Method validation included intra- and interseries variability, carryover, and limit of detection. We also performed a comparative study with isoelectric focusing results on 2082 specimens. Results: Intraassay imprecision values (CVs) varied between 2.5% and 30.7%. Interassay CVs were between 6.3% and 23.6%. Carryover was <0.03%, and the limit of detection was fixed at 1% of Hb S. According to the MS/MS settings (detection of Hb S, Hb C, Hb E, and β-globin production defects), the comparative study did not yield any discrepant results between the 2 techniques. Conclusions: MS/MS is a reliable method for hemoglobinopathy neonatal screening.

Glutaric Acidemia Type 1: First Saudi Patient Diagnosed by Tandem Mass Spectrometry-Based Neonatal Screening

1998 ◽  
Vol 18 (2) ◽  
pp. 160-163 ◽  
Author(s):  
S. Soufi ◽  
M.S. Rashed ◽  
M. Al Essa ◽  
M.P. Bucknall ◽  
A. Refi ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Neonatal Screening ◽  
Tandem Mass
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