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 multiple 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.
Authors: Patrick V. Hopkins, Tracy Klug, Lacey Vermette , Julie Raburn-Miller, Jami Kiesling, and Sharmini Rogers
JAMA Pediatrics. 2018; May 29 [Epub ahead of print]. PMID: 29813145.