Abstract
Chromosomal microarray is a high resolution genomic technology to diagnose genetic conditions associated with losses or gains of the human genome. This technology is currently routinely used in numerous clinical settings, including postnatal diagnosis of disorders with genetic etiologies such as intellectual disability, developmental delay, neurocognitive phenotypes, congenital anomalies, and prenatal diagnosis wherein the referral could be ultrasound anomalies, advanced maternal age, and normal course of pregnancy. We describe the use of Chromosomal SNP microarrays for prenatal diagnosis of genetic disorders which result from both copy number or copy neutral changes in the genome.
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References
American College of O., Gynecologists Committee on G (2013) Committee Opinion No. 581: the use of chromosomal microarray analysis in prenatal diagnosis. Obstet Gynecol 122(6):1374–1377. https://doi.org/10.1097/01.AOG.0000438962.16108.d1
Wapner RJ, Martin CL, Levy B et al (2012) Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 367(23):2175–2184. https://doi.org/10.1056/NEJMoa1203382
Acknowledgments
We thank the technical staff at Affymetrix, who developed and standardized these protocols for use in a clinical laboratory. The members of clinical chromosomal array laboratory at Columbia University Medical Center are also acknowledged for setting up and fine-tuning these protocols.
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Ganapathi, M., Nahum, O., Levy, B. (2019). Prenatal Diagnosis Using Chromosomal SNP Microarrays. In: Levy, B. (eds) Prenatal Diagnosis. Methods in Molecular Biology, vol 1885. Humana Press, New York, NY. https://doi.org/10.1007/978-1-4939-8889-1_13
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DOI: https://doi.org/10.1007/978-1-4939-8889-1_13
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Publisher Name: Humana Press, New York, NY
Print ISBN: 978-1-4939-8887-7
Online ISBN: 978-1-4939-8889-1
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