Summary
Background
Neonatal screening for congenital disorders like phenylketonuria (PKU), congenital hypothyroidism (CH) and congenital adrenal hyperplasia (CAH) is generally performed in dried blood spots on filter paper. The analytes of interest for testing for PKU, CH and CAH are phenylalanine, thyrotropin (TSH) and 17α-hydroxyprogesterone (17OHP), respectively. The International Society for Neonatal Screening (ISNS) decided to prepare a combined reference preparation for the three analytes on filter paper Schleicher & Schuell #903, Whatman BFC180 and Toyo Roshi 545. This ‘First ISNS Reference Preparation for Neonatal Screening for TSH, phenylalanine and 17OHP in blood spots’ (1st ISNS-RPNS) has been prepared by the RIVM (Bilthoven).
Method
The number of filter paper cards prepared, each with two sets of six blood spot calibrators, was 480, 42 and 69 for Schleicher & Schuell #903, Whatman BFC180 and Toyo Roshi 545, respectively. The volume of blood dispensed was 50 μl. The range of concentrations for TSH was 1–121 mIU/L blood, for phenylalanine 65–865 μmol/L blood and for 17OHP 2.2–302 nmol/L blood.
Results
The linearity of the blood spot calibrators and the homogeneity of the batch (only tested for Schleicher & Schuell) were good. The differences between the three filter papers were small: i.e. the potency of the ISNS-RPNS on Whatman and Toyo Roshi in terms of Schleicher & Schuell was between 0.98 and 1.09 for the three analytes.
Conclusion
The 1st ISNS-RPNS for TSH, phenylalanine and 17OHP can be said to be suitable as formal reference preparation and as a source for (re)calibrating kit calibrators.
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Communicating editor: Rodney Pollitt
Online citation: JIMD Short Report #056 (2007) Online
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Elvers, L.H., Loeber, J.G., Dhondt, JL. et al. First ISNS Reference Preparation for Neonatal Screening for thyrotropin, phenylalanine and 17α-hydroxyprogesterone in blood spots. J Inherit Metab Dis 30, 609 (2007). https://doi.org/10.1007/s10545-007-0622-y
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DOI: https://doi.org/10.1007/s10545-007-0622-y