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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. 1Department of Medical Genetics, University of Cambridge, Cambridge, UK
  2. 2East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
  3. 3Department of Paediatrics, University of Cambridge, Cambridge, UK
  4. 4Department of Paediatrics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK
  5. 5Rosie 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}cam.ac.uk

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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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