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The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature |
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| Authors: | Jonathan L A Callaway Lisa G Shaffer Lyn S Chitty Jill A Rosenfeld John A Crolla |
| Institution: | 1. Paw Print Genetics, Genetic Veterinary Sciences, Inc., Spokane, WA, USA;2. Clinical and Molecular Genetics Unit, UCL Institute of Child Health, London, UK
Great Ormond Street NHS Foundation Trust, London, UK University College London Hospitals NHS Foundation Trust, London, UK;3. Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, WA, USA;4. Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury, UK Faculty of Medicine, Department of Human Genetics and Genomic Medicine, University of Southampton, Southampton General Hospital, Southampton, UK |
| Abstract: | The clinical utility of microarray technologies when used in the context of prenatal diagnosis lies in the technology's ability to detect submicroscopic copy number changes that are associated with clinically significant outcomes. We have carried out a systematic review of the literature to calculate the utility of prenatal microarrays in the presence of a normal conventional karyotype. Amongst 12 362 cases in studies that recruited cases from all prenatal ascertainment groups, 295/12 362 (2.4%) overall were reported to have copy number changes with associated clinical significance (pCNC), 201/3090 (6.5%) when ascertained with an abnormal ultrasound, 50/5108 (1.0%) when ascertained because of increased maternal age and 44/4164 (1.1%) for all other ascertainment groups (e.g. parental anxiety and abnormal serum screening result). When additional prenatal microarray studies are included in which ascertainment was restricted to fetuses with abnormal ultrasound scans, 262/3730 (7.0%) were reported to have pCNCs. © 2013 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd. |
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