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...
Guardado en:
| Autores principales: | , , |
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| 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
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| Materias: | |
| Acceso en línea: | http://repositorio.ub.edu.ar/handle/123456789/2887 |
| Aporte de: |
| Sumario: | 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. |
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