Tandem Mass Spectrometry and Newborn Screening: Pilot Data and Review

United States legislatures are debating whether to use tandem mass spectrometry to expand the roster of inherited disorders tested in newborn screening pro-grams. The debate is hampered because published finan-cial data comparing charges associated with late vs early diagnosis are not readily ava...

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Autores principales: Filiano, James J., Bellimer, Sherry Gray, Kunz, Pamela L.
Formato: Artículo
Lenguaje:Inglés
Publicado: Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas 2014
Materias:
Tandem Mass Spectrometry
Newborn Screening
Organic and Amino Acid Disorders
Trastornos orgánicos y aminoácidos
Evaluación del recién nacido
espectrometría de masas en tándem
Acceso en línea:http://repositorio.ub.edu.ar/handle/123456789/2887
Aporte de:
Repositorio Institucional - Universidad de Belgrano (UB) de Universidad de Belgrano
id I36-R142-123456789-2887
record_format dspace
institution Universidad de Belgrano
institution_str I-36
repository_str R-142
collection Repositorio Institucional - Universidad de Belgrano (UB)
language Inglés
topic Tandem Mass Spectrometry
Newborn Screening
Organic and Amino Acid Disorders
Trastornos orgánicos y aminoácidos
Evaluación del recién nacido
espectrometría de masas en tándem
spellingShingle Tandem Mass Spectrometry
Newborn Screening
Organic and Amino Acid Disorders
Trastornos orgánicos y aminoácidos
Evaluación del recién nacido
espectrometría de masas en tándem
Filiano, James J.
Bellimer, Sherry Gray
Kunz, Pamela L.
Tandem Mass Spectrometry and Newborn Screening: Pilot Data and Review
topic_facet Tandem Mass Spectrometry
Newborn Screening
Organic and Amino Acid Disorders
Trastornos orgánicos y aminoácidos
Evaluación del recién nacido
espectrometría de masas en tándem
description United States legislatures are debating whether to use tandem mass spectrometry to expand the roster of inherited disorders tested in newborn screening pro-grams. The debate is hampered because published finan-cial data comparing charges associated with late vs early diagnosis are not readily available. We provide pilot financial data comparing late diagnosis vs presumptive diagnosis and early management taken from consecutive patients with propionic acidemia diagnosed from 1995-1998 in New Hampshire. We extrapolated from these data and the incidence of treatable inborn errors of metabolism to estimate the projected yearly savings of critical care charges if expanded newborn screening were instituted. We conclude that institution of expanded screening will bring diminished morbidity and large savings in yearly chronic care and critical care charges.
format Article
author Filiano, James J.
Bellimer, Sherry Gray
Kunz, Pamela L.
author_facet Filiano, James J.
Bellimer, Sherry Gray
Kunz, Pamela L.
author_sort Filiano, James J.
title Tandem Mass Spectrometry and Newborn Screening: Pilot Data and Review
title_short Tandem Mass Spectrometry and Newborn Screening: Pilot Data and Review
title_full Tandem Mass Spectrometry and Newborn Screening: Pilot Data and Review
title_fullStr Tandem Mass Spectrometry and Newborn Screening: Pilot Data and Review
title_full_unstemmed Tandem Mass Spectrometry and Newborn Screening: Pilot Data and Review
title_sort tandem mass spectrometry and newborn screening: pilot data and review
publisher Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas
publishDate 2014
url http://repositorio.ub.edu.ar/handle/123456789/2887
work_keys_str_mv AT filianojamesj tandemmassspectrometryandnewbornscreeningpilotdataandreview
AT bellimersherrygray tandemmassspectrometryandnewbornscreeningpilotdataandreview
AT kunzpamelal tandemmassspectrometryandnewbornscreeningpilotdataandreview
bdutipo_str Repositorios
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