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The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.

Publication ,  Journal Article
Taylor, JL; Clinard, K; Powell, CM; Rehder, C; Young, SP; Bali, D; Beckloff, SE; Gehtland, LM; Kemper, AR; Lee, S; Millington, D; Patel, HS ...
Published in: J Pediatr
August 2019

OBJECTIVE: To evaluate the performance of a 2-tiered newborn screening method for mucopolysaccharidosis type I (MPS I) in North Carolina. STUDY DESIGN: The screening algorithm included a flow injection analysis-tandem mass spectrometry assay as a first-tier screening method to measure α-L-iduronidase (IDUA) enzyme activity and Sanger sequencing of the IDUA gene on dried blood spots as a second-tier assay. The screening algorithm was revised to incorporate the Collaborative Laboratory Integrated Reports, an analytical interpretive tool, to reduce the false-positive rate. A medical history, physical examination, IDUA activity, and urinary glycosaminoglycan (GAG) analysis were obtained on all screen-positive infants. RESULTS: A total of 62 734 specimens were screened with 54 screen-positive samples using a cut-off of 15% of daily mean IDUA activity. The implementation of Collaborative Laboratory Integrated Reports reduced the number of specimens that screened positive to 19 infants. Of the infants identified as screen-positive, 1 had elevated urinary GAGs and a homozygous pathogenic variant associated with the severe form of MPS I. All other screen-positive infants had normal urinary GAG analysis; 13 newborns had pseudodeficiency alleles, 3 newborns had variants of unknown significance, and 2 had heterozygous pathogenic variants. CONCLUSIONS: An infant with severe MPS I was identified and referred for a hematopoietic stem cell transplant. Newborn IDUA enzyme deficiency is common in North Carolina, but most are due to pseudodeficiency alleles in infants with normal urinary GAG analysis and no evidence of disease. The pilot study confirmed the need for second-tier testing to reduce the follow-up burden.

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Published In

J Pediatr

DOI

EISSN

1097-6833

Publication Date

August 2019

Volume

211

Start / End Page

193 / 200.e2

Location

United States

Related Subject Headings

  • Tandem Mass Spectrometry
  • Sequence Analysis
  • Referral and Consultation
  • Pediatrics
  • North Carolina
  • Neonatal Screening
  • Mucopolysaccharidosis I
  • Infant, Newborn
  • Iduronidase
  • Humans
 

Citation

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Taylor, J. L., Clinard, K., Powell, C. M., Rehder, C., Young, S. P., Bali, D., … Muenzer, J. (2019). The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening. J Pediatr, 211, 193-200.e2. https://doi.org/10.1016/j.jpeds.2019.04.027
Taylor, Jennifer L., Kristin Clinard, Cynthia M. Powell, Catherine Rehder, Sarah P. Young, Deeksha Bali, Sara E. Beckloff, et al. “The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.J Pediatr 211 (August 2019): 193-200.e2. https://doi.org/10.1016/j.jpeds.2019.04.027.
Taylor JL, Clinard K, Powell CM, Rehder C, Young SP, Bali D, et al. The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening. J Pediatr. 2019 Aug;211:193-200.e2.
Taylor, Jennifer L., et al. “The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.J Pediatr, vol. 211, Aug. 2019, pp. 193-200.e2. Pubmed, doi:10.1016/j.jpeds.2019.04.027.
Taylor JL, Clinard K, Powell CM, Rehder C, Young SP, Bali D, Beckloff SE, Gehtland LM, Kemper AR, Lee S, Millington D, Patel HS, Shone SM, Woodell C, Zimmerman SJ, Bailey DB, Muenzer J. The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening. J Pediatr. 2019 Aug;211:193-200.e2.
Journal cover image

Published In

J Pediatr

DOI

EISSN

1097-6833

Publication Date

August 2019

Volume

211

Start / End Page

193 / 200.e2

Location

United States

Related Subject Headings

  • Tandem Mass Spectrometry
  • Sequence Analysis
  • Referral and Consultation
  • Pediatrics
  • North Carolina
  • Neonatal Screening
  • Mucopolysaccharidosis I
  • Infant, Newborn
  • Iduronidase
  • Humans