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Taking consent for neonatal microarray analysis as a screen for genomic rearrangements: are paediatricians equipped for the genomic era?
  1. Katrina Andrews1,2,
  2. Matina Prapa1,2,
  3. Elizabeth Radford3,4,
  4. Ingrid Simonic2,
  5. Simon Holden1,2,
  6. Gusztav Belteki5
  1. 1 Department of Medical Genetics, University of Cambridge, Cambridge, UK
  2. 2 East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
  3. 3 Department of Paediatrics, University of Cambridge, Cambridge, UK
  4. 4 Department of Paediatrics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
  5. 5 Rosie Neonatal Unit, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
  1. Correspondence to Dr Elizabeth Radford, Department of Paediatrics, University of Cambridge, Cambridge CB2 1TN, UK; ejr41{at}

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Microarrays are increasingly requested as a first-line genetic investigation for chromosome anomalies in the neonatal population. Consent is usually taken by paediatricians, frequently trainees, often without specific training in how to consent for genetic tests. Unlike in the paediatric population,1 there are no consensus guidelines on the indications for neonatal microarray testing. Our local guideline recommends microarray testing in babies with multiple congenital anomalies or ambiguous genitalia. However, studies have also suggested the utility of microarray testing in congenital heart disease2 and intrauterine growth restriction (IUGR) without congenital anomalies.3

Informed genetic consent needs to cover prognostication (most pathogenic copy number variants (CNVs) are associated with a significant risk of learning disability); potential implications for family members; incidental findings and the risk of identifying variants of uncertain significance (VUS).

We conducted a retrospective study on …

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  • KA, MP and ER contributed equally.

  • Contributors All authors contributed to the design of the study. KA, MP and ER are joint first authors. KA, MP, ER and IS collected and analysed the data.

  • 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.

  • Patient consent for publication Not required.

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

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