Newborn screening [NEW TOPIC PAGE]

Hot Topics of the Day|PHGKB




Last Posted: Sep 11, 2020

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• Infants with Congenital Disorders Identified Through Newborn Screening — United States, 2015–2017
  MK Sontag et al, MMWR, September 10, 2020
• Newborn Screening Practices and Alpha-Thalassemia Detection — United States, 2016
  MA Bender et al, MMWR, September 11, 2020
• Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.
  Carducci Carla et al. JIMD reports 2020 Sep 55(1) 59-67
• Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders.
  Márquez-Caraveo María Elena et al. Journal of autism and developmental disorders 2020 Sep
• Next-generation sequencing of newborn screening genes: the accuracy of short-read mapping
  C Trier et al, NPJ Genomic Medicine, September 3, 2020
• Metabolic Serendipities of Expanded Newborn Screening.
  Yahyaoui Raquel et al. Genes 2020 Aug 11(9)
• Cystic fibrosis newborn screening: the importance of bloodspot sample quality.
  Doull Iolo et al. Archives of disease in childhood 2020 Aug
• Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
  Roman Tamara S et al. American journal of human genetics 2020 Aug
• A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
  Sanders Karen A et al. International journal of neonatal screening 2020 Jun 6(2)
• Appropriate thresholds for accurate screening for β-thalassemias in the newborn period: results from a French center for newborn screening.
  Allaf Bichr et al. Clinical chemistry and laboratory medicine 2020 Aug

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