Expanded newborn screening by tandem mass spectrometry: future tests, new perspectives. We report on our 10-year experience of expanded newborn screening by tandem mass spectrometry in Tuscany (Italy), the first Italian Region to screen all newborns for more than 40 inborn errors of metabolism: organization, diseases observed and updates on methods to reduce false-positive and false negative tests are described. Additionally new biomarkers able to identify new metabolic disorders have been reported. Blood collection is recommended between 48 and 72 h of life. Blood spots are sent daily by courier to laboratory. Up to now, spots from about 315000 infants have been analysed and 197 affected patients have been identified (disorders of amino acids, organic acids, fatty acids, and purines metabolism). We describe adjustments to cut-off values, the introduction of a second-tier test for propionic acidaemia and for methylmalonic aciduria, the inclusion of succinylacetone, adenosine and 2-deoxyadenosine in the panel of metabolites. These changes resulted in a reduction in recalls from 1.47% to less than 0.3%and consequently of working time and parental stress. Avoiding false-negatives by using more specific markers and minimizing the false positive rate with second-tier testing is important for a successful newborn screening programme.

Expanded newborn screening by tandem mass spectrometry: future tests, new Perspective / Giancarlo la Marca. - In: LIGAND ASSAY. - ISSN 2421-3632. - STAMPA. - 17:(2012), pp. 6-12.

Expanded newborn screening by tandem mass spectrometry: future tests, new Perspective.

LA MARCA, GIANCARLO
2012

Abstract

Expanded newborn screening by tandem mass spectrometry: future tests, new perspectives. We report on our 10-year experience of expanded newborn screening by tandem mass spectrometry in Tuscany (Italy), the first Italian Region to screen all newborns for more than 40 inborn errors of metabolism: organization, diseases observed and updates on methods to reduce false-positive and false negative tests are described. Additionally new biomarkers able to identify new metabolic disorders have been reported. Blood collection is recommended between 48 and 72 h of life. Blood spots are sent daily by courier to laboratory. Up to now, spots from about 315000 infants have been analysed and 197 affected patients have been identified (disorders of amino acids, organic acids, fatty acids, and purines metabolism). We describe adjustments to cut-off values, the introduction of a second-tier test for propionic acidaemia and for methylmalonic aciduria, the inclusion of succinylacetone, adenosine and 2-deoxyadenosine in the panel of metabolites. These changes resulted in a reduction in recalls from 1.47% to less than 0.3%and consequently of working time and parental stress. Avoiding false-negatives by using more specific markers and minimizing the false positive rate with second-tier testing is important for a successful newborn screening programme.
2012
17
6
12
Giancarlo la Marca
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/945762
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