As part of a special issue from the International Journal on Neonatal Screening, Drs. Millington and Bali review the development of newborn screening for LSDs and provide an objective comparison of the two technologies currently available for high throughput, multiplexed screening.
The Missouri State Public Health Laboratory (MSPHL) recently published findings on incidence rates from 4 years of full population newborn screening for Pompe, MPS I, Gaucher and Fabry lysosomal storage disorders (LSDs) using the digital microfluidic platform SEEKER. The Missouri program is the longest-running prospective and un-blinded newborn screening and follow-up study of LSDs in the United States. In the first 4 years of LSD screening, the MSPHL identified 133 newborns who were confirmed through diagnostic testing to have one of the four LSDs. The incidence rates for Pompe and Fabry found in Missouri correlate well with results from Taiwan but are higher than recently reported incidence rates in Illinois. Incidence rates for Gaucher and MPS I correlate well to other pilot studies. The MSPHL has not identified any missed LSD cases to date.
This study demonstrates the feasibility of using lower sample volumes for testing coagulation markers of enzymatic functional assays on a microfluidic cartridge.
Dr. Millington refutes further misinformation regarding the application of ‘equivalent cutoffs’ to prospective NBS data, misleading comparisons of MS/MS and fluorometry GAA testing methods and the effect of preanalytical variability on LSD NBS results.
Dr. David Millington, pioneer of expanded newborn screening, and Dr. Deeksha Bali, expert in LSD diagnostic methods, address persistent misinformation regarding current methods for newborn screening of LSDs.
This collaborative study out of Taiwan compared the impact of very early (by 10 days of age) to early (by 1 month of age) initiation of enzyme replacement therapy on long-term health outcomes in patients with infantile onset Pompe disease (IOPD), a lysosomal storage disorder. The authors conclude that starting enzyme replacement therapy just a few days earlier may improve long-term outcomes for IOPD patients.
This report demonstrated the feasibility of measuring glucose-6-phosphate dehydrogenase (G6PD) enzyme activity via the digital microfluidic platform for point-of-care newborn screening.
The first ever published study of prospective newborn screening for lysosomal storage disorders in the U.S. highlights the results from the first 6 months of newborn screening in Missouri for Pompe, Gaucher, Fabry and MPS I.
To demonstrate that different assays can be performed on the same digital microfluidic cartridge, this study demonstrated feasibility of performing an enzyme assay for biotinidase deficiency on the same cartridge used for detecting enzyme activity of lysosomal storage disorders.
As a follow-up to previous research, this study demonstrated feasibility of performing enzyme activity assays for Gaucher and Hurler diseases using digital microfluidics.