Prenatal Diagnosis pp 171-186 | Cite as
Chromosomal Microarray Analysis Using Array Comparative Genomic Hybridization on DNA from Amniotic Fluid and Chorionic Villus Sampling
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Abstract
Chromosomal Microarray analysis offers an objective high resolution view of copy number changes in the genome that contribute to genomic disorders in various clinical setting such as postnatal, prenatal, and oncology. Here, we describe a fast and reliable method of using chromosomal microarray analysis in detection of genomic imbalances that may be associated with congenital malformations in a prenatal setting. Results can be obtained in 4–5 days using direct amniotic fluid (AF) or chorionic villus samples (CVS).
Key words
Array CGH Microarray Prenatal diagnosis Comparative genomic hybridizationReferences
- 1.Kallioniemi A, Kallioniemi OP, Sudar D et al (1992) Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science 258(5083):818–821CrossRefGoogle Scholar
- 2.Solinas-Toldo S, Lampel S, Stilgenbauer S et al (1997) Matrix-based comparative genomic hybridization: biochips to screen for genomic imbalances. Genes Chromosomes Cancer 20(4):399–407CrossRefGoogle Scholar
- 3.Snijders AM, Nowak N, Segraves R et al (2001) Assembly of microarrays for genome-wide measurement of DNA copy number. Nat Genet 29(3):263–264. https://doi.org/10.1038/ng754CrossRefPubMedGoogle Scholar
- 4.Cai WW, Mao JH, Chow CW et al (2002) Genome-wide detection of chromosomal imbalances in tumors using BAC microarrays. Nat Biotechnol 20(4):393–396CrossRefGoogle Scholar
- 5.Ylstra B, van den Ijssel P, Carvalho B et al (2006) BAC to the future! or oligonucleotides: a perspective for micro array comparative genomic hybridization (array CGH). Nucleic Acids Res 34(2):445–450. https://doi.org/10.1093/nar/gkj456CrossRefPubMedPubMedCentralGoogle Scholar
- 6.Cheung SW, Shaw CA, Yu W et al (2005) Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med 7(6):422–432. https://doi.org/10.109701.GIM.0000170992.63691.32CrossRefGoogle Scholar
- 7.Miller DT, Adam MP, Aradhya S et al (2010) Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86(5):749–764. https://doi.org/10.1016/j.ajhg.2010.04.006CrossRefPubMedPubMedCentralGoogle Scholar
- 8.Manning M, Hudgins L, Professional P et al (2010) Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med 12(11):742–745. https://doi.org/10.1097/GIM.0b013e3181f8baadCrossRefPubMedPubMedCentralGoogle Scholar
- 9.Wapner RJ, Martin CL, Levy B, et al (2012) Chromosomal microarray versus karyotyping for prenatal diagnosis. The New England journal of medicine. 367(23):2175–2184. https://doi.org/10.1056/NEJMoa1203382
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