在荷兰实施血红蛋白病新生儿筛查。
Implementing neonatal screening for haemoglobinopathies in the Netherlands.
机构信息
Neonatal Screening Researcher, Screening Laboratory, National Institute for Public Health and the Environment, Laboratory for Infectious Diseases and Perinatal Screening, Bilthoven, The Netherlands.
出版信息
J Med Screen. 2010;17(2):58-65. doi: 10.1258/jms.2010.009075.
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.
背景
荷兰严重血红蛋白病（如镰状细胞病[SCD]）的出生患病率估计至少为每年 50 例新生儿。SCD 的新生儿筛查于 2007 年 1 月被纳入荷兰筛查计划。我们在此评估了三种用于血红蛋白病新生儿筛查的高效液相色谱（HPLC）系统，并介绍了随后的试点筛查计划的结果。
方法
通过分析 131 个血样和血样混合物对 Variant NewBorn Screening（Vnbs）HPLC 系统（伯乐）进行了验证。随后，比较了 G7（东曹生物科学）和 Ultra（普里默斯公司）与 Vnbs 的性能。在常规荷兰新生儿筛查计划的 21,969 个干血斑样本的试点筛查计划中，对这三种 HPLC 分析仪进行了测试。
结果
试点筛查产生了 188 个异常模式。三种 HPLC 仪器在批内和批间精度方面表现出相似的精度，并且相似地检测到了异常样本。然而，高通量、采样系统、结果呈现和色谱图的集成有所不同。
结论
所有三种分析仪都能满意地检测到相同的异常血红蛋白，但集成的色谱图存在不同的不精密度。结果比较表明，伯乐的 Vnbs 是首选系统。然而，需要进行软件调整以提高该设备用于筛查β和α地中海贫血的诊断潜力。
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