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Rapid Prenatal Diagnostics in the Interphase Nucleus : Procedure and Cut-off Rates

Thomas Liehr and Monika Ziegler

Institute of Human Genetics and Anthropology, Jena, Germany

Correspondence to: Dr. Thomas Liehr, Institut für Humangenetik und Anthroplogie, Kollegiengasse 10, D-07743 Jena, Germany. E-mail: i8lith{at}mti.uni-jena.de

Results of a rapid prenatal aneuploidy screening in uncultured amniocytes using FISH are available within 24 hr. However, care has to be taken of possible pitfalls in connection with the commercially available probe sets and in the interpretation of results in general. Here we present our cut-off rates for and the way in which we handle the Aneu Vysion kit (ABBOTT/Vysis), based on the experience of 1200 studied cases. In summary, the method is reliable, and the risk for misdiagnosis is low (0.4%). Nonetheless, the test should be used exclusively as a preamble to full chromosome analysis by microscopy.

(J Histochem Cytochem 53:289–291, 2005)

Key Words: prenatal diagnosis • FISH • centromeric probes • locus-specific probes • pitfalls • cut-off

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				M. Choolani, S.S.Y. Ho, K. Razvi, S. Ponnusamy, S. Baig, N.M. Fisk, A. Biswas, and and the Rapid Molecular Testing in Prenatal Diagno FastFISH: technique for ultrarapid fluorescence in situ hybridization on uncultured amniocytes yielding results within 2 h of amniocentesis Mol. Hum. Reprod., June 1, 2007; 13(6): 355 - 359. [Abstract] [Full Text] [PDF]

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