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

      Elvers LH; Loeber JG; Dhondt JL; Fukushi M; Hannon WH; Torresani T; Webster D; LIS (Rijksinstituut voor Volksgezondheid en Milieu RIVMHopital Saint PhilibertLilleFranceSapporo City Institute of Public HealthSapporoJapanCenters for Disease Control and PreventionAtlantaGAUSAUniversitats KinderklinikzurichSwitzerlandNational Testing CenterAucklandNew Zealand, 2005-09-15)
      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.