Polar body diagnosis (PBD) enables the indirect cyto- and molecular genetic analysis of oocytes. Its main application is the detection of chromosomal aneuploidies in oocytes. In this article, we present our investigations on the use of PBD in cases with a known cytogenetic predisposition. Our data show that the application of PBD is beneficial for maternal translocations as the majority of oocytes are unbalanced for the chromosomes involved in the translocation. The exclusion of aneuploid oocytes results in acceptable pregnancy and delivery rates. Our data on women with low level sex chromosome mosaicism in peripheral lymphocytes are equally interesting. Gonosomal aneuploidies were not found to contribute predominantly to the chromosomal disorders identified in mature oocytes in these patients.
|Translated title of the contribution
|Polar body diagnosis in cases with cytogenetic predisposition
|Number of pages
|Published - 02.2007