Newborn Screening By Tandem Mass Spectrometry: Impacts, Implications and Perspectives
Autor: | Marie-Thérèse Berthier, Yves Giguère, Michel Déry, François Rousseau, Jean-Guy Girard, Dominique Guérette |
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Rok vydání: | 2012 |
Předmět: |
0303 health sciences
medicine.medical_specialty Genetic Medicine Newborn screening education.field_of_study business.industry Population Disease 3. Good health 03 medical and health sciences 0302 clinical medicine 030225 pediatrics medicine OMIM : Online Mendelian Inheritance in Man Screening method Who criteria Age of onset Intensive care medicine education business 030304 developmental biology |
Zdroj: | Tandem Mass Spectrometry-Applications and Principles |
DOI: | 10.5772/33118 |
Popis: | There are over 6000 inherited human diseases described in the McKusick Online Mendelian Inheritance in Man database (OMIM)(McKusick-Nathans Institute of Genetic Medicine, 2011). They show a wide range of variability in frequency, severity, age of onset, diagnostic and treatment approaches. A subset of diseases induce severe metabolic disturbances in the newborn that can lead to irreversible damage and illnesses. For some of those, there is a treatment that prevents such damages as long as it is initiated early after birth. For these diseases, population-based newborn screening has been proposed, developed and implemented in many countries albeit at different rates and based on different criteria. Even if those diseases are rare, the burden that is prevented if treated early has been shown to be cost-effective as it is larger than the cost of systematic screening and treatment of the cases identified (Venditti et al., 2003). Different analytical methods have been deployed since the 1960’s to detect abnormal levels of specific metabolites or hormones in the newborn’s blood with sufficient reliability and low cost to allow their use as screening methods (see 1.1). We will describe the tremendous impact that tandem mass spectrometry has had in the field of newborn screening for inherited diseases in the recent decade. After a brief history of newborn screening, we will describe the classical WHO criteria for population-based screening for disease, summarize impacts of tandem mass spectrometry in this field. Then, we will describe the laboratory workflow, the pre-examination, examination, and postexamination aspects of MS/MS-based newborn screening, its advantages and limitations. Other issues will also be reviewed including sample and data management, revision of screening criteria and future perspectives for MS/MS in population-based screening. |
Databáze: | OpenAIRE |
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