University Lille Nord de France, Lille, France.
Proteomics Clin Appl. 2011 Aug;5(7-8):405-14. doi: 10.1002/prca.201000093. Epub 2011 Jul 13.
Universal newborn screening for sickle cell diseases (SCDs) is not currently performed in many countries concerned by this public health problem. Owing to the technical and financial limitations of standard profiling methods (IEF coupled to subsequent HPLC), ethnically targeted neonatal screening is often preferred. Here, we demonstrate that MALDI-MS-based SCD newborn screening could be considered as a potential method for a strategy to universal screening because of its high throughput, cost-effectiveness, sensitivity and ability to automatically discriminate sickle haemoglobin.
We carried out a retrospective study of dried blood spots from 844 Guthrie cards. Four determinations of 1000 mass spectra were performed from each tested dried blood spot.
The MALDI-MS-based screening was highly correlated with the reference method. Only 2.3% of the samples presented a poor spectral quality.
Given that the overall acquisition, data reprocessing and software-assisted classification (ClinProTools™) time for processing four mass determinations (corresponding to one sample) was around 1 min, 1000 samples can be analysed per day. Rather than seeking to detect as many different haemoglobinopathies as possible, it would become possible to use MALDI-TOF-MS to screen (at a constant cost) as many samples as possible for sickle cell disease.
许多存在此类公共卫生问题的国家目前并未对镰状细胞病（SCD）进行普遍新生儿筛查。由于标准分析方法（IEF 结合随后的 HPLC）存在技术和财务限制，通常更倾向于针对特定族群的新生儿筛查。在此，我们证明 MALDI-MS 为基础的 SCD 新生儿筛查可作为一种通用筛查策略的潜在方法，因为其具有高通量、高性价比、高灵敏度和自动区分镰状血红蛋白的能力。
我们对 844 张 Guthrie 卡的干血斑进行了回顾性研究。每个测试的干血斑进行了 4 次 1000 次质量谱测定。
基于 MALDI-MS 的筛查与参考方法高度相关。只有 2.3%的样本谱质量较差。
鉴于处理四个质量测定（相当于一个样本）的总体采集、数据重新处理和软件辅助分类（ClinProTools™）时间约为 1 分钟，每天可分析 1000 个样本。而不是试图尽可能多地检测到不同的血红蛋白病，MALDI-TOF-MS 将可用于以恒定的成本筛查尽可能多的镰状细胞病样本。
