The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry
Technological advances are revolutionizing the way in which we can diagnose and screen whole popula-tions for inborn errors of metabolism. These advances are also necessitating a reevaluation of the spectrum of metabolic disorders included in newborn screening program. The initial concept for in...
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/123456789/2906 |
| Aporte de: |
| Sumario: | Technological advances are revolutionizing the way
in which we can diagnose and screen whole popula-tions for inborn errors of metabolism. These advances
are also necessitating a reevaluation of the spectrum of
metabolic disorders included in newborn screening
program. The initial concept for inclusion into a screen-ing program was based upon a number of factors,
including the use of one test on one sample for a single
disease. Early assay capabilities limited the number of
tests that a screening center could perform on the filter
paper blood spot sample collected shortly after birth.
As technology and assay sensitivity improved, more
tests could be performed on a dried blood spot sample,
expanding the laboratory’s ability to screen for more
than one disorder in the newborn period. In the last
decade, the evolution of tandem mass spectrometry has
improved our diagnostic capabilities further. We can
now readily detect multiple diseases on a single sample,
using a single analytical procedure. This review will
highlight historical aspects of newborn screening for
inborn errors of metabolism, describe state-of-the-art
screening practices and focus upon possible future
trends for this important area of laboratory testing |
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