The incidence of aneuploidy in human oocytes assessed by conventional cytogenetic analysis
- 17 November 2004
- journal article
- research article
- Published by Springer Nature in Hereditas
- Vol. 141 (2) , 97-105
- https://doi.org/10.1111/j.1601-5223.2004.01803.x
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 approximately 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.Keywords
This publication has 70 references indexed in Scilit:
- Chromosomal anomalies in human gametes and pre-implantation embryos, and their potential effect on reproductionAndrologia, 2001
- Human Female Meiosis: New Insights into an Error-Prone ProcessAmerican Journal of Human Genetics, 1997
- First-Meiotic-Division Nondisjunction in Human OocytesAmerican Journal of Human Genetics, 1997
- Cytogenetics of uncleaved oocytes and arrested zygotes in IVF programsJournal of Assisted Reproduction and Genetics, 1996
- Assisted Fertilization for Male-Factor InfertilitySeminars in Reproductive Medicine, 1995
- Chromosomally Abnormal Gametes as a Cause of Developmental and Congenital Anomalies in Humans*Congenital Anomalies, 1994
- Hormonal stimulation for in vitro fertilization: A comparison of fertilization rates and cytogenetic findings in unfertilized oocytesJournal of Assisted Reproduction and Genetics, 1992
- Chromosomal analysis of unfertilized oocytes and morphologically abnormal preimplantation embryos from an in vitro fertilization programJournal of Assisted Reproduction and Genetics, 1990
- Cytogenetics of unfertilized human oocytesReproduction, 1988
- Chromosome Analysis of Human Oocytes Recovered from Preovulatory Follicles in Stimulated CyclesNew England Journal of Medicine, 1987