Abstract for presentation at 11th International Congress of Human Genetics

Benefit and limitations of interphase M-FISH-applications on uncultured amnion cells and polar body biopsies

  • PD Dr Markus Stumm, Zentrum für Pränataldiagnostik, Kurfürstendamm 199, Berlin, Germany, Germany
  • Prof Dr Rolf-Dieter Wegner, Zentrum für Pränataldiagnostik, Kurfürstendamm 199, Berlin, Germany, Germany
  • Dr Matthias Bloechle, Kinderwunschzentrum an der Gedächtniskirche, Rankestraße 34, Berlin, Germany, Germany
  • Dr Heike Eckel, Kinderwunschzentrum an der Gedächtniskirche, Rankestraße 34, Berlin, Germany, Germany

    • Purpose: Early, rapid and reliable diagnosis is a priority in prenatal medicine. The combination of specific sonographic and biochemical markers has already improved the sensitivity of non-invasive first trimester risk screening in pregnancy. In invasive prenatal diagnosis, in addition to well-established chorionic villi short term culture, interphase multi-colour-fluorescence in situ hybridization (M-FISH) has become an important tool for the rapid detection of foetal aneuploidies. In our study we analysed benefit and limitations of interphase M-FISH applications on uncultured amnion cells and polar body biopsies.
    Methods: Interphase M-FISH applications enable the diagnosis of selected chromosomal abnormalities in single cells and, therefore, became an important diagnostic tool in prenatal and preimplantation diagnosis (PGD). The development of commercially available probe sets, in particular, has led to broad use of interphase M-FISH on uncultured amnion cells, polar bodies and blastomeres.
    Results: Here, we present our own data of M-FISH applications on interphase nuclei of uncultured amnion cells (>1000 cases) using the AneuVysion assay (ABBOTT/Vysis; Downers Grove, IL), and we report on our first experience in polar body diagnosis (>150 cases) using the MultiVysion PB Probe Set (ABBOTT/Vysis; Downers Grove, IL). We will demonstrate limitations and possible pitfalls of these methods. Furthermore, we will give a review of false positive and false negative results reported in the literature (1).
    Conclusions: Interphase M-FISH applications, using commercial probes, have become important tools for the detection of aneuploidies in prenatal, as well as PGD diagnosis. Nevertheless, there are some limitations and possible pitfalls which should be considered by those who use these technologies.
    (1) Stumm et al. (2006) Interphase M-FISH applications using commercial probes in prenatal and PGD diagnostics. Paper accepted for publication in Cytogenetic and Genome Research

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