Abstract
Fluorescence in situ hybridization (FISH) and quantitative fluorescence (QF)-PCR are rapid molecular methods that test for common chromosomal aneuploidies in prenatal diagnosis. While cytogenetic analysis requires approximately 7–14 days before fetal karyotypes are available, these molecular methods release results of sex chromosome aneuploidies, Down syndrome, Edward’s syndrome, and Patau’s syndrome within 24–48 h of fetal sampling, alleviating parental anxiety. However, specific diagnosis or exclusion of aneuploidy should be available within the same day of amniocentesis. We developed “FlashFISH,” a low cost FISH method that allows accurate results to be reported within 2 h of fetal sampling. Here, we report our experience of using FlashFISH in prenatal diagnosis, and we illustrate in detail the protocols used for the purpose in our laboratory.
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References
Evans, M. I., Henry, G. P., Miller, W. A., Bui, T. H., Snidjers, R. J., Wapner, R. J., Miny, P., Johnson, M. P., Peakman, D., Johnson, A., Nicolaides, K., Holzgreve, W., Ebrahim, S. A., Babu, R., Jackson, L. (1999) International, collaborative assessment of 146,000 prenatal karyotypes: Expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used. Hum. Reprod. 14, 1213–1216.
Caine, A., Maltby, A. E., Parkin, C. A., Waters, J. J., Crolla, J. A. (2005) Prenatal detection of Down’s syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: A cytogenetic risk assessment. Lancet 366, 123–128.
Klinger, K., Landes, G., Shook, D., Harvey, R., Lopez, L., Locke, P., Lerner, T., Osathanondh, R., Leverone, B., Houseal, T., et al. (1992) Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH). Am. J. Hum. Genet. 51, 55–65.
Weise, A., Liehr, T. (2008) Rapid prenatal aneuploidy screening by fluorescence in situ hybridization (FISH). Methods Mol. Biol. 444, 39–47.
Pertl, B., Yau, S. C., Sherlock, J., Davies, A. F., Mathew, C. G., Adinolfi, M. (1994) Rapid molecular method for prenatal detection of Down’s syndrome. Lancet 343, 1197–1198.
Mann, K., Petek, E., Pertl, B. (2008) Prenatal detection of chromosome aneuploidy by quantitative fluorescence PCR. Methods Mol. Biol. 444, 71–94.
Schouten, J. P., McElgunn, C. J., Waaijer, R., Zwijnendburg, D., Diepvens, F., Pals, G. (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res. 30, e57.
Kooper, A. J., Faas, B. H., Kater-Baats, E., Feuth, T., Janssen, J. C., van der Burgt, I., Lotgering, F. K., Geurts van Kessel, A., Smits, A. P. (2008) Multiplex Ligation-dependent Probe Amplification (MLPA) as a standalone test for rapid aneuploidy detection in amniotic fluid cells. Prenat. Diagn. 28, 1004–1010.
Tercyak, K. P., Johnson, S. B., Roberts, S. F., Cruz, A. C. (2001) Psychological response to prenatal genetic counseling and amniocentesis. Patient Educ. Couns. 43, 73–84.
Jouannic, J. M., Martinovic, J., Bessières, B., Romana, S., Bonnet, D. (2003) Fluorescence in situ hybridization (FISH) rather than ultrasound for the evaluation of fetuses at risk for 22q11.1 deletion. Prenat. Diagn. 23, 607–608.
Shaffer, L. G., Bui, T-H. (2007) Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis. Am. J. Med. Genet. C. Semin. Med. Genet. 145C, 87–98.
Choolani, M., Ho, S. S., Razvi, K., Ponnusamy, S., Baig, S., Fisk, N. M., Biswas, A., Rapid Molecular Testing in Prenatal Diagnosis Group. (2007) FastFISH: Technique for ultrarapid fluorescence in situ hybridization on uncultured amniocytes yielding results within 2 h of amniocentesis. Mol. Hum. Reprod. 13, 355–359.
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Ho, S.S.Y., Choolani, M.A. (2010). FlashFISH: “Same Day” Prenatal Diagnosis of Common Chromosomal Aneuploidies. In: Bridger, J., Volpi, E. (eds) Fluorescence in situ Hybridization (FISH). Methods in Molecular Biology, vol 659. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-60761-789-1_19
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DOI: https://doi.org/10.1007/978-1-60761-789-1_19
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