Newborn screening for lysosomal storage disorders in Illinois: the initial 15-month experience

BK Burton, J Charrow, GE Hoganson… - The Journal of …, 2017 - Elsevier
BK Burton, J Charrow, GE Hoganson, D Waggoner, B Tinkle, SR Braddock, M Schneider…
The Journal of pediatrics, 2017Elsevier
Objectives To assess the outcomes of newborn screening for 5 lysosomal storage disorders
(LSDs) in the first cohort of infants tested in the state of Illinois. Study design Tandem mass
spectrometry was used to assay for the 5 LSD-associated enzymes in dried blood spot
specimens obtained from 219 973 newborn samples sent to the Newborn Screening
Laboratory of the Illinois Department of Public Health in Chicago. Results The total number
of cases with a positive diagnosis and the incidence for each disorder were as follows: Fabry …
Objectives
To assess the outcomes of newborn screening for 5 lysosomal storage disorders (LSDs) in the first cohort of infants tested in the state of Illinois.
Study design
Tandem mass spectrometry was used to assay for the 5 LSD-associated enzymes in dried blood spot specimens obtained from 219 973 newborn samples sent to the Newborn Screening Laboratory of the Illinois Department of Public Health in Chicago.
Results
The total number of cases with a positive diagnosis and the incidence for each disorder were as follows: Fabry disease, n = 26 (1 in 8454, including the p.A143T variant); Pompe disease, n = 10 (1 in 21 979); Gaucher disease, n = 5 (1 in 43 959); mucopolysaccharidosis (MPS) type 1, n = 1 (1 in 219 793); and Niemann-Pick disease type A/B, n = 2 (1 in 109 897). Twenty-two infants had a positive screen for 1 of the 5 disorders but could not be classified as either affected or unaffected after follow-up testing, including genotyping. Pseudodeficiencies for alpha-L-iduronidase and alpha-glucosidase were detected more often than true deficiencies.
Conclusions
The incidences of Fabry disease and Pompe disease were significantly higher than published estimates, although most cases detected were predicted to be late onset. The incidences of Gaucher disease, MPS I, and Niemann-Pick disease were comparable with previously published estimates. A total of 16 infants could not be positively identified as either affected or unaffected. To validate the true risks and benefits of newborn screening for LSD, long term follow-up in these infants and those detected with later-onset disorders will be essential.
Elsevier