Abstract
In prenatal diagnostics, interphase FISH (iFISH) may be applied for the detection of certain numeric chromosomal aneuploidies. iFISH in uncultivated amniocytes can be performed from 12 weeks of gestation to the third trimester. Alternatively, the described aneuploidy screening set here is also suitable on short-term or uncultivated chorionic villus sampling (CVS) without metaphases as a fast screening test for the most common aneuploidies. Also this test helps to distinguish between culture-induced or real fetal triploidy or tetraploidy (mosaicism), which is found from time to time in the parallel cell culture; in this setting native cells are evaluated and they reflect the real fetal status. Commercially available chromosome-specific DNA probes for chromosomes 13, 18, 21, X, and Y are routinely applied for this. Thus, trisomies of chromosomes 13, 18, and 21, gonosomal aberrations, as well as tri- or tetraploidy can be identified. False-positive results are possible, but rare.
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References
Held KR (2003) QS Zytogenetik Bericht 2002/2003. Med Genet 15:420–421
Hulten MA, Dhanjal S, Pertl B (2003) Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR. Reproduction 126:279–297
Liehr T, Ziegler M (2005) Rapid prenatal diagnostics in the interphase nucleus: procedure and cut-off rates. J Histochem Cytochem 53:289–291
Braha E, Martiniuc V, Panzaru M et al (2013) Prenatal diagnosis of gonosomal anomalies: limitations of the FISH method and genetic counseling difficulties in 15 cases. Rev Med Chir Soc Med Nat Iasi 117:450–456
Liehr T, Starke H, Beensen V et al (1999) Translocation trisomy dup(21q) and free trisomy 21 can be distinguished by interphase-FISH. Int J Mol Med 3:11–14
Eiben B, Trawicki W, Hammans W et al (1999) Rapid prenatal diagnosis of aneuploidies in uncultured amniocytes by fluorescence in situ hybridization. Evaluation of 3,000 cases. Fetal Diagn Ther 14:193–197
Goumy C, Bonnet-Dupeyron MN, Cherasse Y et al (2004) Chorionic villus sampling (CVS) and fluorescence in situ hybridization (FISH) for a rapid first-trimester prenatal diagnosis. Prenat Diagn 24:249–256
Liehr T, Schreyer I, Neumann A et al (2002) Two more possible pitfalls of rapid prenatal diagnostics using interphase nuclei. Prenat Diagn 22:497–499
Cirigliano V, Voglino G, Cañadas MP et al (2004) Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18,000 consecutive clinical samples. Mol Hum Reprod 10:839–846
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Weise, A., Ziegler, M., Liehr, T. (2017). FISH in Uncultivated Amniocytes. In: Liehr, T. (eds) Fluorescence In Situ Hybridization (FISH). Springer Protocols Handbooks. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-52959-1_19
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DOI: https://doi.org/10.1007/978-3-662-52959-1_19
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