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Published on: December 31, 2015
Implementing neonatal screening for haemoglobinopathies in the Netherlands.
Marelle J Bouva1, Karin Mohrmann, Henri B J M Brinkman
1Neonatal Screening Researcher, Screening Laboratory, National Institute for Public Health and the Environment, Laboratory for Infectious Diseases and Perinatal Screening, Bilthoven, The Netherlands. marelle.bouva@rivm.nl
Journal of Medical Screening
|July 28, 2010
Summary
Three HPLC systems were evaluated for neonatal screening of sickle cell disease (SCD) and other haemoglobinopathies. The Bio-Rad Vnbs system was preferred, though software adjustments are needed for optimal beta- and alpha-thalassaemia detection.
Area of Science:
- Clinical Chemistry
- Neonatal Screening
- Haematology
Background:
- Severe haemoglobinopathies, including sickle cell disease (SCD), affect at least 50 newborns annually in the Netherlands.
- Neonatal screening for SCD was implemented in the Dutch screening program in January 2007.
- Evaluation of high-performance liquid chromatography (HPLC) systems is crucial for effective neonatal screening.
Purpose of the Study:
- To evaluate three HPLC systems for neonatal screening of haemoglobinopathies.
- To compare the performance of the Bio-Rad Vnbs, Tosoh G7, and Primus Ultra HPLC systems.
- To assess the suitability of these systems for a pilot screening program.
Main Methods:
- Validation of the Bio-Rad Vnbs HPLC system using 131 blood samples and mixtures.
- Comparative analysis of Vnbs, Tosoh G7, and Primus Ultra systems.
- Pilot screening of 21,969 dried blood spot samples from the Dutch neonatal screening program.
Main Results:
- 188 abnormal haemoglobin patterns were identified in the pilot screening.
- All three HPLC devices demonstrated comparable precision and detection of abnormal samples.
- Differences were observed in throughput, sampling, results presentation, and chromatogram integration.
Conclusions:
- All tested HPLC analysers satisfactorily detected abnormal haemoglobins.
- The Bio-Rad Vnbs system was identified as the preferred option for neonatal screening.
- Software modifications are necessary to enhance the diagnostic capabilities of the Bio-Rad Vnbs for beta- and alpha-thalassaemia screening.
