Newborn screening [NEW TOPIC PAGE]

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Last Posted: Aug 28, 2020

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• 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
• Cystic fibrosis in low and middle-income countries (LMIC): A view from four different regions of the world.
  da Silva Filho Luiz Vicente Ribeiro Ferreira et al. Paediatric respiratory reviews 2020 Jul
• Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing.
  Adhikari Aashish N et al. International journal of neonatal screening 2020 Jun 6(2)
• Highlights on Genomics Applications for Lysosomal Storage Diseases.
  La Cognata Valentina et al. Cells 2020 Aug 9(8)
• Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States.
  Speiser Phyllis W et al. International journal of neonatal screening 2020 Jun 6(2)
• Vulnerable Child Syndrome and Newborn Screening Carrier Results for Cystic Fibrosis or Sickle Cell.
  Farrell Michael H et al. The Journal of pediatrics 2020 Sep 22444-50.e1
• Extremely high birth prevalence of sickle cell disease in rural Tanzania.
  Eastburg Luke et al. Pediatric blood & cancer 2020 Aug e28620
• Cystic Fibrosis-Screening Positive Inconclusive Diagnosis: Newborn Screening and Long-Term Follow-Up Permits to Early Identify Patients with CFTR-Related Disorders.
  Castaldo Alice et al. Diagnostics (Basel, Switzerland) 2020 Aug 10(8)

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