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MALDI-TOF MS profiling as the first-tier screen for sickle cell disease in neonates: matching throughput to
Johan Hachani1, Sophie Duban-Deweer, Gwënaël Pottiez
1University Lille Nord de France, Lille, France.
Insights
Matrix-assisted laser desorption/ionization mass spectrometry (MALDI-MS) offers a high-throughput, cost-effective method for universal newborn screening of sickle cell disease (SCD). This technique enables rapid and accurate discrimination of sickle haemoglobin, addressing limitations of current screening strategies.
Area of Science:
- Biochemistry
- Mass Spectrometry
- Public Health
Background:
- Universal newborn screening for sickle cell diseases (SCDs) is crucial but limited in many countries.
- Standard methods like IEF and HPLC face technical and financial constraints, leading to ethnically targeted screening.
- There is a need for efficient and cost-effective methods for universal SCD screening.
Purpose of the Study:
- To evaluate Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry (MALDI-MS) as a potential method for universal newborn screening of SCD.
- To assess the throughput, cost-effectiveness, sensitivity, and discrimination ability of MALDI-MS for sickle haemoglobin detection.
Main Methods:
- A retrospective study analyzed 844 dried blood spots from Guthrie cards.
- Four mass spectra determinations were performed for each sample using MALDI-MS.
- Data was processed using ClinProTools™ software for classification.
Main Results:
- MALDI-MS screening demonstrated high correlation with the reference method.
- Only 2.3% of samples exhibited poor spectral quality, indicating high reliability.
- The method achieved a throughput of approximately 1000 samples per day.
Conclusions:
- MALDI-MS is a viable, high-throughput, and cost-effective method for universal newborn screening of SCD.
- This technology allows for efficient screening of large populations for sickle haemoglobin.
- MALDI-MS facilitates a shift towards maximizing sample screening for SCD rather than detecting multiple hemoglobinopathies.
Purpose:
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.
Experimental Design:
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.
Results:
The MALDI-MS-based screening was highly correlated with the reference method. Only 2.3% of the samples presented a poor spectral quality.
Conclusions And Clinical Relevance:
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.
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