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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
Insights
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.
Background:
The birth prevalence of severe haemoglobinopathies such as sickle cell disease (SCD) in the Netherlands has been estimated to be at least 50 newborns per year. Neonatal screening for SCD was added to the Dutch screening programme in January 2007. We here evaluated three high performance liquid chromatography (HPLC) systems for application in neonatal screening for haemoglobinopathies, and present the results of a subsequent pilot screening programme.
Methods:
The Variant NewBorn Screening (Vnbs) HPLC system (Bio-Rad) was validated by analysing 131 blood samples and blood mixtures. Subsequently, the performance of the G7 (Tosoh BioScience) and Ultra (Primus Corporation) was compared with the Vnbs. The three HPLC analysers were tested in a pilot screening programme on 21,969 dried blood spot samples from the routine Dutch neonatal screening programme.
Results:
The pilot screening resulted in 188 abnormal patterns. The three HPLC devices presented comparable within- and between-run precision and detected the abnormal samples similarly. The high throughput, sampling systems, presentation of results, and integration of the chromatograms, however, were different.
Conclusion:
All three analysers detected the same abnormal haemoglobins satisfactorily, but integrated the chromatograms with variable imprecision. Comparison of the results suggested that the Bio-Rad Vnbs was the preferred system. However, software adjustments were required to improve the diagnostic potential of this device for screening for beta- and alpha-thalassaemia.
