Comparison of Tandem Mass Spectrometry and the Fluorometric Method—Parallel Phenylalanine Measurement on a Large Fresh Sample Series and Implications for Newborn Screening for Phenylketonuria
| Autor: | Dasa Perko, Urh Groselj, Vanja Cuk, Ziga Iztok Remec, Mojca Zerjav Tansek, Ana Drole Torkar, Blaz Krhin, Ajda Bicek, Adrijana Oblak, Tadej Battelino, Barbka Repic Lampret |
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| Jazyk: | angličtina |
| Rok vydání: | 2023 |
| Předmět: |
false positive
newborn screening (NBS) tandem mass spectrometry (MS/MS) Organic Chemistry General Medicine phenylketonuria (PKU) Catalysis Computer Science Applications Inorganic Chemistry fluorometric method (FM) recall rate comparison Physical and Theoretical Chemistry Molecular Biology Spectroscopy phenylalanine (Phe) |
| Zdroj: | International Journal of Molecular Sciences Volume 24 Issue 3 Pages: 2487 |
| ISSN: | 1422-0067 |
| DOI: | 10.3390/ijms24032487 |
| Popis: | Phenylketonuria (PKU) was the first disease to be identified by the newborn screening (NBS) program. Currently, there are various methods for determining phenylalanine (Phe) values, with tandem mass spectrometry (MS/MS) being the most widely used method worldwide. We aimed to compare the MS/MS method with the fluorometric method (FM) for measuring Phe in the dried blood spot (DBS) and the efficacy of both methods in the NBS program. The FM was performed using a neonatal phenylalanine kit and a VICTOR2TM D fluorometer. The MS/MS method was performed using a NeoBaseTM 2 kit and a Waters Xevo TQD mass spectrometer. The Phe values measured with the MS/MS method were compared to those determined by the FM. The cut-off value for the NBS program was set at 120 µmol/L for FM and 85 µmol/L for MS/MS. We analyzed 54,934 DBS. The measured Phe values varied from 12 to 664 µmol/L, with a median of 46 µmol/L for the MS/MS method and from 10 to 710 µmol/L, with a median of 70 µmol/L for the FM. The Bland–Altman analysis indicated a bias of −38.9% (−23.61 µmol/L) with an SD of 21.3% (13.89 µmol/L) when comparing the MS/MS method to the FM. The Phe value exceeded the cut-off in 187 samples measured with FM and 112 samples measured with MS/MS. The FM had 181 false positives, while the MS/MS method had 106 false positives. Our study showed that the MS/MS method gives lower results compared to the FM. Despite that, none of the true positives would be missed, and the number of false-positive results would be significantly lower compared to the FM. |
| Databáze: | OpenAIRE |
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