Table 1 Summary of results using different screening strategies.

From: Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots

Screening method

Number of newborns screened

Screening cutoff

Number of newborns with abnormal 1st tier results

Number of newborns with abnormal 2nd tier results

C16:0-sulfatide

27,335

0.64 after normalization

195

2 of 122a

ARSA activity

2287

20% daily mean activity

3

0 of 3b

  1. aThe 2nd tier test was to measure ARSA activity in dried blood spots (DBS). Only 122 of the 195 newborns with abnormal C16:0-sulfatide results were submitted for the ARSA activity assay. The remaining were not processed for ARSA activity as the DBS were too old (>3 months at room temperature) for the test.
  2. bThe 2nd tier test was to measure C16:0-sulfatide in DBS.
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