About this Journal Submit a Manuscript Table of Contents
BioMed Research International
Volume 2013 (2013), Article ID 346762, 14 pages
http://dx.doi.org/10.1155/2013/346762
Review Article

Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature

1Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus
2Professor Patsalis Research Team, The Cyprus Institute of Neurology and Genetics, 2370 Nicosia, Cyprus
3Ultrasound and Fetal Medicine Centre, 2025 Nicosia, Cyprus
4Department of Genetics and Molecular Biology, Gynecological, and Children’s Hospital, Mitera Maternity, 15123 Athens, Cyprus

Received 26 October 2012; Accepted 17 January 2013

Academic Editor: Yasemin Alanay

Copyright © 2013 Paola Evangelidou et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Linked References

  1. M. W. Steele and W. R. Breg Jr., “Chromosome analysis of human amniotic-fluid cells,” The Lancet, vol. 1, no. 7434, pp. 383–385, 1966. View at Scopus
  2. J. Mohr, “Foetal genetic diagnosis: development of techniques for early sampling of foetal cells,” Acta pathologica et microbiologica Scandinavica, vol. 73, no. 1, pp. 73–77, 1968. View at Scopus
  3. W. C. Leung and T. T. Lao, “Rapid aneuploidy testing, traditional karyotyping, or both?” The Lancet, vol. 366, no. 9480, pp. 97–98, 2005. View at Publisher · View at Google Scholar · View at Scopus
  4. K. D. Lichtenbelt, N. V. Knoers, and G. H. Schuring-Blom, “From karyotyping to array-CGH in prenatal diagnosis,” Cytogenetics and Genome Research, vol. 135, no. 3-4, pp. 241–250, 2011. View at Publisher · View at Google Scholar
  5. J. Coppinger, S. Alliman, A. N. Lamb, B. S. Torchia, B. A. Bejjani, and L. G. Shaffer, “Whole-genome microarray analysis in prenatal specimens identifies clinically significant chromosome alterations without increase in results of unclear significance compared to targeted microarray,” Prenatal Diagnosis, vol. 29, no. 12, pp. 1156–1166, 2009. View at Publisher · View at Google Scholar · View at Scopus
  6. P. Evangelidou, C. Sismani, M. Ioannides et al., “Clinical application of whole-genome array CGH during prenatal diagnosis: study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations,” Molecular Cytogenetics, vol. 3, no. 1, article 24, 2010. View at Publisher · View at Google Scholar · View at Scopus
  7. M. Tyreman, K. M. Abbott, L. R. Willatt et al., “High resolution array analysis: diagnosing pregnancies with abnormal ultrasound findings,” Journal of Medical Genetics, vol. 46, no. 8, pp. 531–541, 2009. View at Publisher · View at Google Scholar · View at Scopus
  8. M. Valduga, C. Philippe, P. B. Segura et al., “A retrospective study by oligonucleotide array-CGH analysis in 50 fetuses with multiple malformations,” Prenatal Diagnosis, vol. 30, no. 4, pp. 333–341, 2010. View at Publisher · View at Google Scholar · View at Scopus
  9. I. B. Van Den Veyver, A. Patel, C. A. Shaw et al., “Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases,” Prenatal Diagnosis, vol. 29, no. 1, pp. 29–39, 2009. View at Publisher · View at Google Scholar · View at Scopus
  10. J. R. Vermeesch, P. D. Brady, D. Sanlaville, K. Kok, and R. J. Hastings, “Genome-wide arrays: quality criteria and platforms to be used in routine diagnostics,” Human Mutation, vol. 33, no. 6, pp. 906–915, 2012. View at Publisher · View at Google Scholar
  11. M. E. Chandler and J. J. Yunis, “A high resolution in situ hybridization technique for the direct visualization of labeled G-banded early metaphase and prophase chromosomes,” Cytogenetics and Cell Genetics, vol. 22, no. 1, pp. 352–356, 1978. View at Scopus
  12. H. Fiegler, R. Redon, D. Andrews et al., “Accurate and reliable high-throughput detection of copy number variation in the human genome,” Genome Research, vol. 16, no. 12, pp. 1566–1574, 2006. View at Publisher · View at Google Scholar · View at Scopus
  13. P. C. Patsalis, P. Evangelidou, S. Charalambous, and C. Sismani, “Flourescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity,” European Journal of Human Genetics, vol. 12, no. 8, pp. 647–653, 2004. View at Publisher · View at Google Scholar · View at Scopus
  14. R. Weksberg, S. Hughes, L. Moldovan, A. S. Bassett, E. W. C. Chow, and J. A. Squire, “A method for accurate detection of genomic microdeletions using real-time quantitative PCR,” BMC Genomics, vol. 6, article 180, 2005. View at Publisher · View at Google Scholar · View at Scopus
  15. B. A. Nowakowska, N. de Leeuw, C. A. Ruivenkamp, et al., “Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies,” European Journal of Human Genetics, vol. 20, no. 2, pp. 166–170, 2012. View at Publisher · View at Google Scholar
  16. L. Kleeman, D. W. Bianchi, L. G. Shaffer et al., “Use of array comparative genomic hybridization for prenatal diagnosis of fetuses with sonographic anomalies and normal metaphase karyotype,” Prenatal Diagnosis, vol. 29, no. 13, pp. 1213–1217, 2009. View at Publisher · View at Google Scholar · View at Scopus
  17. F. Vialard, D. Molina Gomes, B. Leroy et al., “Array comparative genomic hybridization in prenatal diagnosis: another experience,” Fetal Diagnosis and Therapy, vol. 25, no. 2, pp. 277–284, 2009. View at Publisher · View at Google Scholar · View at Scopus
  18. W. Bi, A. M. Breman, S. F. Venable et al., “Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH,” Prenatal Diagnosis, vol. 28, no. 10, pp. 943–949, 2008. View at Publisher · View at Google Scholar · View at Scopus
  19. L. G. Shaffer, J. Coppinger, S. Alliman et al., “Comparison of microarray-based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens,” Prenatal Diagnosis, vol. 28, no. 9, pp. 789–795, 2008. View at Publisher · View at Google Scholar · View at Scopus
  20. T. Sahoo, S. W. Cheung, P. Ward et al., “Prenatal diagnosis of chromosomal abnormalities using array-based comparative genomic hybridization,” Genetics in Medicine, vol. 8, no. 11, pp. 719–727, 2006. View at Publisher · View at Google Scholar · View at Scopus
  21. F. Fiorentino, F. Caiazzo, S. Napolitano, et al., “Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: a prospective study on over 1000 consecutive clinical cases,” Prenatal Diagnosis, vol. 31, no. 13, pp. 1270–1282, 2011. View at Publisher · View at Google Scholar
  22. R. J. Wapner, C. L. Martin, B. Levy, et al., “Chromosomal microarray versus karyotyping for prenatal diagnosis,” The New England Journal of Medicine, vol. 367, no. 23, pp. 2175–2184, 2012. View at Publisher · View at Google Scholar
  23. C. Le Caignec, M. Boceno, P. Saugier-Veber et al., “Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations,” Journal of Medical Genetics, vol. 42, no. 2, pp. 121–128, 2005. View at Publisher · View at Google Scholar · View at Scopus
  24. S. C. Hillman, S. Pretlove, A. Coomarasamy et al., “Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis,” Ultrasound in Obstetrics and Gynecology, vol. 37, no. 1, pp. 6–14, 2011. View at Publisher · View at Google Scholar · View at Scopus
  25. L. G. Shaffer, “Risk estimates for uniparental disomy following prenatal detection of a nonhomologous Robertsonian translocation,” Prenatal Diagnosis, vol. 26, no. 4, pp. 303–307, 2006. View at Publisher · View at Google Scholar · View at Scopus
  26. B. H. W. Faas, I. Van Der Burgt, A. J. A. Kooper et al., “Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis,” Journal of Medical Genetics, vol. 47, no. 9, pp. 586–594, 2010. View at Publisher · View at Google Scholar · View at Scopus
  27. M. R. J. Gardner and G. R. Sutherland, Chromosome Abnormalities and Genetic Counceling, 2004.
  28. J. M. Hahnemann and L. O. Vejerslev, “European collaborative research on mosaicism in CVS (EUCROMIC)—fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy,” American Journal of Medical Genetics, vol. 70, no. 2, pp. 179–187, 1997.
  29. T. H. Bui, A. Vetro, O. Zuffardi, and L. G. Shaffer, “Current controversies in prenatal diagnosis 3: is conventional chromosome analysis necessary in the post-array CGH era?” Prenatal Diagnosis, vol. 31, no. 3, pp. 235–243, 2011. View at Publisher · View at Google Scholar · View at Scopus
  30. A. Vetro, K. Bouman, R. Hastings, et al., “The introduction of arrays in prenatal diagnosis: a special challenge,” Human Mutation, vol. 33, no. 6, pp. 923–929, 2012. View at Publisher · View at Google Scholar
  31. W. Dondorp, B. Sikkema-Raddatz, C. de Die-Smulders, and G. de Wert, “Arrays in postnatal and prenatal diagnosis: an exploration of the ethics of consent,” Human Mutation, vol. 33, no. 6, pp. 916–922, 2012. View at Publisher · View at Google Scholar