Summary
Microarray-based comparative genomic hybridization (array CGH) is a fast and high-resolution approach to the diagnosis of a large number of genetic syndromes associated with loss or gain of the human genome. This technology has proven to be useful in several clinical settings, including postnatal diagnosis of mental retardation, developmental delay, and congenital malformation syndromes. We describe the use of array CGH for prenatal diagnosis of a range of chromosomal syndromes associated with congenital malformations visible by ultrasound. The procedure is reproducible in a clinical setting and provides reliable results in a short period (~5 days). Thus, depending on the array used, array CGH may develop into an excellent tool for prenatal diagnosis.
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Acknowledgements
We thank the technical staff at Signature Genomic Laboratories who developed and refined these protocols for use in a clinical laboratory.
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© 2008 Humana Press, a part of Springer Science+Business Media, LLC
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Kashork, C.D., Theisen, A., Shaffer, L.G. (2008). Prenatal Diagnosis Using Array CGH. In: Hahn, S., Jackson, L.G. (eds) Prenatal Diagnosis. Methods in Molecular Biology™, vol 444. Humana Press. https://doi.org/10.1007/978-1-59745-066-9_5
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DOI: https://doi.org/10.1007/978-1-59745-066-9_5
Publisher Name: Humana Press
Print ISBN: 978-1-58829-803-4
Online ISBN: 978-1-59745-066-9
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