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    First ISNS Reference Preparation for Neonatal Screening for thyrotropin, phenylalanine and 17a-hydroxyprogesterone in blood spots

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    Authors
    Elvers LH
    Loeber JG
    Dhondt JL
    Fukushi M
    Hannon WH
    Torresani T
    Webster D
    Series/Report no.
    RIVM rapport 230011004
    Type
    Report
    Language
    en
    
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    Title
    First ISNS Reference Preparation for Neonatal Screening for thyrotropin, phenylalanine and 17a-hydroxyprogesterone in blood spots
    Translated Title
    Het eerste ISNS Referentie Preparaat voor Neonatale Screening op thyrotropine, fenylalanine en 17a-hydroxyprogesteron in bloedvlekken
    Publiekssamenvatting
    Many countries have a screening programme for newborns for congenital metabolic disorders. For this screening several components are measured in dried blood spots collected by a heel stick on filter paper. Most laboratories use commercially available reagent sets for the measurements. Manufacturers of these reagents often calibrate their reagent sets against own calibrators. Moreover several types of filter paper, each with different specifications are in use all over the world. These factors make it difficult to compare results from different screening laboratories and to evaluate such screening programmes. In the past the International Society for Neonatal Screening (ISNS) has been able to persuade manufacturers to use previously prepared dried blood spot reference materials as calibration standards. Having run out of stock, in 2004 the ISNS asked the RIVM to produce a combined reference preparation in filter paper blood with known concentrations of thyrotropine, 17alpha-hydroxyprogesterone and phenylalanine, being the markers of interest for screening on disorders of the thyroid gland, the adrenal gland and amino acid metabolism, respectively. This report describes the production and evaluation of this reference preparation.
    Bij screening van pasgeborenen voor aangeboren stofwisselingsziekten wordt in een bloedmonster, verkregen via de hielprik en opgevangen op filtreerpapier, een aantal bloedcomponenten gemeten. Veelal wordt gebruik gemaakt van commercieel verkrijgbare reagentia sets. De fabrikanten kalibreren hun reagentia sets vaak met hun eigen kalibratoren. Bovendien zijn er in de wereld meerdere filtreerpapiersoorten in gebruik, met verschillen in specificaties. Door deze beide oorzaken zijn de uitslagen van verschillende screeningslaboratoria vaak niet goed vergelijkbaar. Dit bemoeilijkt de evaluatie van zulke screeningsprogramma's. De International Society for Neonatal Screening (ISNS) heeft eerder goede ervaringen opgedaan met het laten bereiden van referentiematerialen in filtreerpapierbloed en het overreden van fabrikanten om deze materialen te gebruiken als maatstaf. In 2004 heeft de ISNS aan het RIVM verzocht om een gecombineerd referentiemateriaal te maken voor filtreerpapierbloed met bekende concentraties aan thyrotropine, 17alpha-hydroxyprogesteron, en phenylalanine, merkstoffen die van belang zijn voor de screening op stoornissen in de schildklier, bijnier, respectievelijk eiwitmetabolisme. In dit rapport is de bereiding en evaluatie van dit referentiemateriaal beschreven.
    Publisher
    Rijksinstituut voor Volksgezondheid en Milieu RIVM
    URI
    http://hdl.handle.net/10029/7233
    Collections
    RIVM official reports

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