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Genomic testing in neonates
  1. Jessica Salkind1,
  2. Alison Mintoft1,2,
  3. Giles Kendall1,
  4. Tazeen Ashraf3
  1. 1 Neonatology, University College London Hospitals NHS Foundation Trust, London, UK
  2. 2 Institute of Women’s Health, University College London, London, UK
  3. 3 Clinical Genetics, Great Ormond Street Hospital for Children, London, UK
  1. Correspondence to Dr Jessica Salkind, University College London Hospitals NHS Foundation Trust, London, UK; jessica.salkind{at}


Recent technological advances have led to the expansion of testing options for newborns with suspected rare genetic conditions, particularly in high-income healthcare settings. This article summarises the key genomic testing approaches, their indications and potential limitations.

  • Genetics
  • Neonatology
  • Ethics
  • Technology

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  • Correction notice This paper has been updated since it was first published. Dr Ally Mintoft's surname has been corrected.

  • Contributors The article was conceived by JS and AM. JS and AM wrote the manuscript with supervision and critical feedback from GK and TA.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer-reviewed.