Human Reproduction, Vol. 8, No. 12, pp. 2185-2191, 1993
© 1993 European Society of Human Reproduction and Embryology
review-article |
Fertilization and early embryology: Diagnosis of major chromosome aneuploidies in human preimplantation embryos
Center for Reproductive Medicine and Infertility, Department of Obstetrics and Gynecology, New York Hospital—Cornell University Medical Center PO Box 30, 1300 York Avenue, New York, NY 10021, USA
Correspondence: 1To whom correspondence should be addressed
A short fluorescence in-situ hybridization (FISH) procedure using fluorochrome and digoxigenin labelled DNA probes was developed for application in human preimplantation embryos in order to analyse the five chromosomes most involved in human aneuploidy (X, Y, 18, 13 and 21). The chromosomes were fluorescent-stained and detected simultaneously in 157 blastomeres from 30 human embryos. Successful FISH analysis was achieved in 93% of the blastomeres. Aberrations for these chromosomes were found in 70% of abnormally developing monospermic embryos. The majority of normally developing monospermic embryos obtained from older patients were also chromosomally abnormal. By analysing all or most of the cells from these embryos, true mosaicism was distinguished from technique failure. Mosaic embryos, polyploid embryos with ploidies as high as 8n, haploid embryos, embryos monosomic for 13/21 and for X, and embryos trisomic for 13/21 and 18, were common in abnormally developing embryos. In contrast, aneuploidy was the main chromosome abnormality found in normally developing monospermic embryos.
Key words: human embryo/in-situ hybridization/mosaicism/polyploidy
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