Expanded Newborn Screening in Bavaria: Tracking to Achieve Requested Repeat Testing

Liebl, Bernhard; Nennstiel-Ratzel, U; Kries, Rüdiger von; Fingerhut, Ralph; Olgemöller, Bernhard; Zapf, Andreas; Roscher, Adelbert A.

doi:10.1006/pmed.2001.0954

Cited by 19 publications

(11 citation statements)

References 16 publications

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“…Some laboratories simply use hot air, although concerns remain over oxidation caused by the presence of oxygen and water vapor in air rather than pure dry nitrogen delivered from pressurized cylinders or nitrogen gas generators. Alternatively, some laboratories use centrifugation under reduced pressure (9 ).…”

Section: Preparation For Ms/ms Analysismentioning

confidence: 99%

Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns

Chace¹,

Kalas²,

Naylor³

2003

Clinical Chemistry

570

366

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Background: Over the past decade laboratories that test for metabolic disorders have introduced tandem mass spectrometry (MS/MS), which is more sensitive, specific, reliable, and comprehensive than traditional assays, into their newborn-screening programs. MS/MS is rapidly replacing these one-analysis, one-metabolite, one-disease classic screening techniques with a oneanalysis, many-metabolites, many-diseases approach that also facilitates the ability to add new disorders to existing newborn-screening panels. Methods: During the past few years experts have authored many valuable articles describing various approaches to newborn metabolic screening by MS/MS. We attempted to document key developments in the introduction and validation of MS/MS screening for metabolic disorders. Our approach used the perspective of the metabolite and which diseases may be present from its detection rather than a more traditional approach of describing a disease and noting which metabolites are increased when it is present. Content: This review cites important historical developments in the introduction and validation of MS/MS screening for metabolic disorders. It also offers a basic technical understanding of MS/MS as it is applied to multianalyte metabolic screening and explains why MS/MS is well suited for analysis of amino acids and acylcarnitines in dried filter-paper blood specimens. It also describes amino acids and acylcarnitines as they are detected and measured by MS/MS and their significance to the identification of specific amino acid, fatty acid, and organic acid disorders. Conclusions: Multianalyte technologies such as MS/MS are suitable for newborn screening and other mass

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Section: Preparation For Ms/ms Analysismentioning

confidence: 99%

Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns

Chace¹,

Kalas²,

Naylor³

2003

Clinical Chemistry

570

366

View full text Add to dashboard Cite

show abstract

“…To be successful, a population screening requires a high participation rate, i.e., all newborns must be examined. Since informed consent is mandatory, successful newborn screening requires the parents' acceptance [198]. Unfortunately, the general public is frequently unable to discriminate between the directed search for or exclusion of a specific disease and an undirected multiparameter exploration of the whole genome.…”

Section: Dna Testingmentioning

confidence: 99%

“…The local health authorities check that every child in their field of responsibility is screened. The public health screening center is also responsible for tracking of positive screening results [199,205].…”

Section: Maintaining Process Quality In Newborn Screeningmentioning

confidence: 99%

Newborn screening for inborn errors of metabolism and endocrinopathies: an update

Fingerhut

Olgemöller

2008

Anal Bioanal Chem

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“…Die Einführung einer solchen Technologie in einer frühen Phase erforderte neben der Techniketablierung auch die sorgfältige Beachtung von für die Gewährleis-tung des Screeningeffektes essenziellen Rahmenbedingungen [7,8,9] …”

Section: Medizinische Und Logistische Voraussetzungenunclassified

Erweiterung des Neugeborenenscreenings durch Tandemmassenspektrometrie

Roscher¹,

Fingerhut²,

Liebl³

et al. 2001

Monatsschrift Kinderheilkunde

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Expanded Newborn Screening in Bavaria: Tracking to Achieve Requested Repeat Testing

Cited by 19 publications

References 16 publications

Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns

Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns

Newborn screening for inborn errors of metabolism and endocrinopathies: an update

Erweiterung des Neugeborenenscreenings durch Tandemmassenspektrometrie

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