The incidence of aneuploidy in human oocytes assessed by conventional cytogenetic analysis

Abstract

Human oocytes failing to fertilize during assisted reproduction are an important source of information for assessing incidence and causal mechanisms of maternal aneuploidy. This review describes the techniques of conventional oocyte chromosome analysis and evaluates the results of 59 studies comprising a total of > 10 000 female gametes. The mean rate of aneuploidy (hypohaploidy + hyperhaploidy) amounts to ∼20%, but this incidence is reduced as soon as possible artifacts introduced by the fixation technique are taken into consideration. It is therefore concluded that a realistic value for numerical abnormalities arising during first meiotic division lies between 12 and 15%. All chromosome groups are affected by aneuploidy but the actually observed frequencies exceed the expected frequencies in groups D, E, and G. Two aneuploidy-causing mechanisms have been identified in human oocytes: nondisjunction, resulting in the loss or gain of whole chromosomes, and predivision, resulting in the loss or gain of single chromatids. A brief analysis including only aneuploid complements with one extra or missing chromosome/chromatid shows a slight increase in predivision (52.9%) compared with nondisjunction (47.1%). Finally, suggestions for future studies are given since, for instance, the presentation of results and the use of cytogenetic nomenclature have not been uniform.