Genomic Structural Variants

Volume 838 of the series Methods in Molecular Biology pp 151-171


Array-Based Approaches in Prenatal Diagnosis

  • Paul D. BradyAffiliated withCentre for Human Genetics, K.U. Leuven
  • , Koenraad DevriendtAffiliated withCentre for Human Genetics, K.U. Leuven
  • , Jan DeprestAffiliated withFoetal Medicine Unit, University Hospital Leuven
  • , Joris R. VermeeschAffiliated withCentre for Human Genetics, K.U. Leuven Email author 

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The diagnostic benefits of array comparative genomic hybridisation (CGH) have been demonstrated, with this technique now being applied as the first-line test for patients with intellectual disabilities and/or multiple congenital anomalies in numerous laboratories. There are no technical barriers preventing the introduction of array CGH to prenatal diagnosis. The question is rather how this is best implemented, and for whom. The challenges lie in the interpretation of copy number variations, particularly those which exhibit reduced penetrance or variable expression, and how to deal with incidental findings, which are not related to the observed foetal anomalies, or unclassified variants which are currently of uncertain clinical significance. Recently, applications of array technologies to the field of pre-implantation genetic diagnosis have also been demonstrated. It is important to address the ethical questions raised concerning the genome-wide analysis of prenatal samples to ensure the maximum benefit for patients. We provide an overview of the recent developments on the use of array CGH in the prenatal setting, and address the challenges posed.

Key words

Prenatal diagnosis Array CGH PGD Copy number variation CNV Incidental findings Unclassified variants Miscarriage POC