Springer Protocols: Abstract: 1. Spectral Karyotyping (SKY): Applications in Prenatal Diagnostics

1. Spectral Karyotyping (SKY): Applications in Prenatal Diagnostics

By: Susanne Mergenthaler-Gatfield⁴, Wolfgang Holzgreve⁴, Sinuhe Hahn⁵

Abstract

Full Text

Download PDF (634K)

The method of spectral karyotyping (SKY) is based on a combination of the technologies of charge-coupled device imaging and spectrometry. The engineering feasibility has been realized in the SpectraCube system from Applied Spectral Imaging Inc., and it allows the simultaneous identification of all 24 human chromosomes. This is performed by characterizing the spectral signature of every image pixel in relation to a fluorochrome combinatorial library translating the image and spectral information into chromosome classification. Applications for SKY include pre- and postnatal characterization of certain numerical and structural rearrangements and complex karyotypes and highly informative analysis of sample materials with only single or few cells available for investigation.

Affiliation(s): (4) Laboratory of Prenatal Medicine, University Women’s Hospital/Department of Research, Basel, Switzerland
(5) Laboratory of Prenatal Medicine and Gynecological Oncology, Department of Biomedicine, University Women’s Hospital, Basel, Switzerland

Book Title: Prenatal Diagnosis

Series: Methods in Molecular Biology | Volume: 444 | Pub. Date: May-09-2008 | Page Range: 3-26 | DOI: 10.1007/978-1-59745-066-9_1

Subject: Molecular Medicine

Key Words: Spectral karyotyping (SKY) - multicolor fluorescence in situ hybridization (M-FISH) - spectroscopy - Fourier transformation - spectral signature - single cell analysis - pre- and postnatal diagnosis

References

Download References

1.	Pinkel, D., Straume, T. and Gray, J. W. (1986) Cytogenetic analysis using quantitative high-sensitivity fluorescence in situ hybridization. Proc. Natl. Acad. Sci.USA 83, 2934–2938.

2.	Tkachuk, D. C., Pinkel, D., Kuo, W.-L., Weier, H.-U., and Gray, J. W. (1991) Clinical applications of fluorescence in situ hybridization. Genet. Anal. Tech. Appl. 8, 67–74.

3.	Pinkel, D., Landegent, J., and Collins, C. (1988) Fluorescence in situ hybridization with human chromosome-specific libraries: detection of trisomy 21 and translocations of chromosome 4. Proc. Natl. Acad. Sci. USA 85, 9138–9142.

4.	Garini, Y., Macville, M., du Manoir, S., et al. (1996) Spectral karyotyping. Bioimaging 4, 65–72.

5.	Schröck, E., du Manoir, S., Veldman, T., et al. (1996) Multicolor spectral karyotyping of human chromosomes. Science 273, 494–497.

6.	Malik, Z., Dishi, M., and Garini, Y. (1996) Fourier transform multipixel spectroscopy and spectral imaging of protoporphyrin in single melanoma cells. Photochem. Photobiol. 63, 608–614.

7.	Bayani, J. and Squire, J. A. (2002) Spectral karyotyping. In: Fan, Y.-S. (ed.). Molecular cytogenetics protocols and application. Humana Press, Totowa, NJ, pp 85–104.

8.	Bayani, J. and Squire, J. A. (2001) Advances in the detection of chromosomal aberrations using spectral karyotyping. Clin. Genet. 59, 65–73.

9.	Warburton, D. (1991) De novo balanced chromosome rearrangements and extra maker chromosomes. Identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am. J. Hum. Genet. 49, 995–1013.

10.	Huang, B., Ning, Y., Lamb, A. N., et al. (1998) Identification of an unusual maker chromosome by spectral karyotyping. Am. J. Med. Genet. 80, 368–372.

11.	Ning, Y., Laundon, C. H., Schröck, E., Buchanan, P., and Ried, T. (1999) Prenatal diagnosis of a mosaic extra structurally abnormal chromosome by spectral karyotyping. Prenat. Diagn. 19, 480–482.

12.	Guanciali-Franchi, P., Calabrese, G., Morizio, E., et al. (2004) Identification of 14 rare marker chromosomes and derivatives by spectral karyotyping in prenatal and postnatal diagnosis. Am. J. Med. Genet. 127, 144–148.

13.	Daniel, A., Hook, E. B., and Wulf, G. (1989) Risk of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. Am. J. Med. Genet. 31, 14–53.

14.	Wang, J.-C., Passage, M. B., Yen, P. H., Shapiro, L. J., and Mohandas, T. K. (1991) Uniparental disomy heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier. Am. J. Hum. Genet. 48, 1069–1074.

15.	Tchinda, J., Volpert, S., McNeil, N., et al. (2003) Multicolor karyotyping in acute myeloid leukemia. Leuk. Lymphoma 44, 1843–1853.

16.	McNeil, N. and Ried, T. (2000) Novel molecular cytogenetic techniques for identifying complex chromosomal rearrangements: technology and applications in molecular medicine. Expert Rev. Mol. Med. 14, 1–14.

17.	Kolialexi, A., Tsangaris, G. T., Kitsiou, S., Kanavakis, E., and Mavrou, A. (2005) Impact of cytogenetic and molecular cytogenetic studies on hematologic malignancies. Anticancer Res. 25, 2979–2983.

18.	Chen, C. P., Chern, S. R., Lee, C. C., et al. (2006) prenatal diagnosis of de novo t(2;18;14)(q33.1;q12.2;q31.2), dup(5)(q34q34), del(7)(p21.1p21.1), and del(10)(q25.3q25.3) and a review of the prenatally ascertained de novo apparently balanced complex and multiple chromosomal rearrangements. Prenat. Diagn. 26, 138–146.

19.	Willadsen, S., Levron, J., Munne, S., Schimmel, T., Marquez, C., Scott, R., and Cohen, J. (1999) Rapid visualization of metaphase chromosomes in single humanblastomeres after fusion with in vitro matured bovine eggs. Hum. Reprod. 2, 470–475.

20.	Marquez, C., Cohen, J., and Munne, S. (1998) Chromosome identification in human oocytes and polar bodies by spectral karyotyping. Cytogenet. Cell. Genet. 81, 254–258.

21.	Gutierrrez-Mateo, C., Gadea, L., Benet, J., Wells, D., Munne, S. and Navarro, J. (2005) Aneuploidy in a Robertsonian (13;14) carrier: case report. Hum. Reprod. 20, 1256–1260.

22.	Sandalinas, M., Marquez, C., and Munne, S. (2002) Spectral karyoytping of fresh, non-inseminated oocytes. Mol. Hum. Reprod. 8, 80–585.

23.	Malik, Z., Rothmann, C., Cycowith, T., Cycowitz, Z. J., and Cohen, A. M. (1998) Spectral morphometric characterization of B-CLL cells versus normal small lymphocytes. J. Histochem. Cytochem. 46, 1113–1118.

24.	Lee, C., Gisselsson, D., Jin, C., et al. (2001) Limitations of chromosome classification by multicolor karyotyping. Am. J. Hum. Genet. 68, 1043–1047.

25.	Fan, Y. S., Siu, V. M., Jung, J. H., and Xu, J. (2000) Sensitivity of multiple color spectral karyotyping in detecting small interchromosomal rearrangements. Genet. Test. 4, 9–14.

26.	Yaron, Y., Carmon, E., Goldstein, M., et al. (2003) The clinical application of spectral karyotyping (SKY^TM) in the analysis of prenatally diagnosed extra structurally abnormal chromosomes (ESACs). Prenat. Diagn. 23, 74–79.

27.	Heng, H. H., Ye, C. J., Yang, F., et al. (2003) Analysis of marker or complex chromosomal rearrangements present in pre- and post-natal karyotypes utilizing a combination of G-banding, spectral karyotyping and fluorescence in situ hybridization. Clin. Genet. 63, 358–367.

28.	Fung, J., Hyun, W., Dandekar, P., Pedersen, R. A., and Weier, H.-U. G. (1998) Spectral imaging in preconception/preimplantation diagnosis (PGD) of aneuploidy: multi-colour, multi-chromosome screening of cells. J. Assist. Reprod. Genet. 15, 322–329.

29.	Fung, J., Weier, H.-U. G., Pedersen, R. A., and Zitzelsberger, H. F. (2002) Spectral imaging analysis of metaphase and interphase cells. In: Rautenstrauss B. and Liehr T. (eds.). FISH technology, Springer-Verlag, Berlin Heidelberg, New York, pp 363–387.

30.	Fung, J, Weier, H.-U. G, Goldberg, J. D., and Pedersen, R. A. (2000) Multilocus genetic analysis of single interphase cells by spectral imaging. Hum. Genet. 107, 615–622.

31.	Vollmer, M., Wenzel, F., de Geyter, C., Zhang, H., Holzgreve, W., and Miny, P. (2000) Assessing the chromosome copy number in metaphase II oocytes by sequential fluorescence in situ hybridization. J. Assist. Reprod. Genet. 17, 596–602.

32.	Nietzel, A., Rocchi, M., Heller, A., et al. (2001) A new multicolor-FISH approach for the characterization of marker chromosomes: centromer-specific multicolor-FISH (cenM-FISH). Hum. Genet. 108, 199–204.

33.	Telenius, H., Pelmear, A. H., Tunnaclife, A., et al. (1992) Cytogenetic analysis by chromosomes painting using DOP-PCR amplified flow-sorted chromosomes. Genes Chromosomes Cancer 4, 257–1.

34.	Zimmermann, B., Holzgreve, W., Zhong, X. Y., and Hahn, S. (2002) Inability to clonally expand fetal progenitors from maternal blood. Fetal Diagn. Ther. 17, 97–100.

35.	Babochkina, T., Mergenthaler, S., De Napoli, G., et al. (2005) Numerous erythroblasts in maternal blood are impervious to fluorescent in sity hybridization analysis, a feature related to a dense compact nucleus with apoptotic character. Haematologica 90, 740–745.

Comments (Loading...)

Post comment/View all comments