Purpose: To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations. Methods: Twenty-two of 32 NBS programmes from 18 countries screened for at least one form of homocystinuria. Centres provided pseudonymised NBS data from patients with cystathionine beta-synthase deficiency (CBSD, n = 19), methionine adenosyltransferase I/III deficiency (MATI/IIID, n = 28), combined remethylation disorder (cRMD, n = 56) and isolated remethylation disorder (iRMD), including methylenetetrahydrofolate reductase deficiency (MTHFRD) (n = 8). Markers and decision limits were converted to multiples of the median (MoM) to allow comparison between centres.
The expansion of national newborn screening (NBS) programmes has provided significant benefits in the diagnosis and early treatment of several rare, heritable conditions, preventing adverse health outcomes for most affected infants. New technological developments have enabled the implementation of testing panel covering over 50 disorders. Consequently, the increment of false positive rate has led to a high number of healthy infants recalled for expensive and often invasive additional testing, opening a debate about the harm-benefit ratio of the expanded newborn screening. The false-positive rate represents a challenge for healthcare providers working in NBS systems. Here, we give an overview on the most commonly used strategies for decreasing the adverse effects due to inconclusive screening results. The focus is on NBS performance improvement through the implementation of analytical methods, the application of new and more informative biomarkers, and by using post-analytical interpretive tools. These strategies, used as part of the NBS process, can to enhance the positive predictive value of the test and reduce the parental anxiety and healthcare costs related to the unnecessary tests and procedures.
SUMMARYAdvantages of dried blood spot include low invasiveness, ease and low cost of sample collection, transport, and storage. We used tandem mass spectrometry (LC-MS/MS) to determine phenobarbital levels on dried blood spot specimens and compared this methodology to commercially available particle enhanced turbidimetric inhibition immunoassay (PETINIA) in plasma/serum samples. The calibration curve in matrix using D 5 -phenobarbital as internal standard was linear in the phenobarbital concentration range of 1-100 mg/L (correlation coefficient 0.9996). The coefficients of variation in blood spots ranged 2.29-6.71% and the accuracy ranged 96.54-103.87%. There were no significant differences between the concentrations measured using PE-TINA and LC-MS/MS (both had similar precision and accuracy) however, LC-MS/MS allows at least 1.5 times higher throughput of phenobarbital analysis and additionally offers ease of sample collection which is particularly important for newborns or small infants.
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