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Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots
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Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots
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Journal Article
Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots
2021
Overview
Purpose
Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by the deficiency of arylsulfatase A (ARSA), which results in the accumulation of sulfatides. Newborn screening for MLD may be considered in the future as innovative treatments are advancing. We carried out a research study to assess the feasibility of screening MLD using dried blood spots (DBS) from de-identified newborns.
Methods
To minimize the false-positive rate, a two-tier screening algorithm was designed. The primary test was to quantify C16:0-sulfatide in DBS by ultraperformance liquid chromatography–tandem mass spectrometry (UPLC-MS/MS). The screening cutoff was established based on the results from 15 MLD newborns to achieve 100% sensitivity. The secondary test was to measure the ARSA activity in DBS from newborns with abnormal C16:0-sulfatide levels. Only newborns that displayed both abnormal C16:0-sulfatide abundance and ARSA activity were considered screen positives.
Results
A total of 27,335 newborns were screened using this two-tier algorithm, and 2 high-risk cases were identified.
ARSA
gene sequencing identified these two high-risk subjects to be a MLD-affected patient and a heterozygote.
Conclusion
Our study demonstrates that newborn screening for MLD is highly feasible in a real-world scenario with near 100% assay specificity.
Publisher
Nature Publishing Group US,Elsevier Limited
