Newborn screening [NEW TOPIC PAGE]

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Last Posted: Aug 10, 2018

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• The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants
  MP Wassertein et al, Genetics in Medicine, August 10, 2018
• Clinical presentation and diagnosis of mucopolysaccharidoses.
  Stapleton Molly et al. Molecular genetics and metabolism 2018 Jan
• Diagnosis and therapeutic monitoring of inborn errors of metabolism in 100,077 newborns from Jining city in China.
  Yang Chi-Ju et al. BMC pediatrics 2018 18(1) 110
• Would Routine Genomic Testing For Cancer And Heart Risk Make Economic Sense?
  A Weintraub, Forbes, July 30, 2018
• An Assessment of Public Preferences for Newborn Screening Using Best-Worst Scaling.
  Tarini Beth A et al. The Journal of pediatrics 2018 Jul
• Assessing the Phenylketonuria Screening Program in Newborns, Iran 2015-2016.
  Ganji Foruzan et al. Acta medica Iranica 2018 Jan 56(1) 49-55
• Identification of Primary Congenital Hypothyroidism Based on Two Newborn Screens - Utah, 2010-2016.
  Jones David E et al. MMWR. Morbidity and mortality weekly report 2018 Jul 67(28) 782-785
• Next-generation sequencing as a second-tier diagnostic test for newborn screening.
  Luo Xiaomei et al. Journal of pediatric endocrinology & metabolism : JPEM 2018 Jul
• The Complexities of Ascertaining Public Preferences for Newborn Screening Policies.
  Ross Lainie Friedman et al. The Journal of pediatrics 2018 Jul
• Digital microfluidics comes of age: high-throughput screening to bedside diagnostic testing for genetic disorders in newborns.
  Millington David et al. Expert review of molecular diagnostics 2018 Jul 1-12

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