Arch Dis Child Fetal Neonatal Ed 99:F338-F341 doi:10.1136/archdischild-2013-304835
  • Review

Prenatal diagnosis of chromosomal imbalances

  1. Anneke Lucassen1,2
  1. 1Wessex Clinical Genetics Service, University Hospitals Southampton, Southampton, Hampshire, UK
  2. 2Clinical Ethics and Law Unit Southampton, University of Southampton, Southampton, Hampshire, UK
  1. Correspondence to Dr Diana G Wellesley, Wessex Clinical Genetics Service, University Hospitals Southampton, Princess Anne Hospital, Southampton, Hampshire SO16 5YA, UK; dgw{at}
  • Received 7 February 2014
  • Revised 7 April 2014
  • Accepted 8 April 2014
  • Published Online First 3 May 2014


Prenatal array comparative genome hybridisation (aCGH) testing has by and large replaced routine karyotyping in many healthcare settings. While this will lead to more diagnoses, uncertain, unexpected or unhelpful findings are also likely to increase. This is the case for aCGH in any setting, but we discuss the particular challenges the prenatal setting generates and suggest areas that need further debate and discussion as well as some pragmatic ways forward.

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