Hum. Reprod. Advance Access published online on January 29, 2004
Human Reproduction, doi:10.1093/humrep/deh094
© 2004 by European Society of Human Reproduction and Embryology
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1 Division of Reproductive Medicine, Department of Obstetrics and Gynaecology, Erasmus Medical Centre, Dr. Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands
* To whom correspondence should be addressed. E-mail: e.baart{at}erasmusmc.nl.
BACKGROUND: Chromosomal mosaicism in human embryos may give rise to false positive or false negative results in preimplantation genetic diagnosis for aneuploidy screening (PGD-AS). Therefore, we have investigated whether the results obtained from a 2-cell biopsy of frozen-thawed embryos and fluorescence in situ hybridization (FISH) analysis are representative for the chromosome constitution of the remaining embryo on day 5. METHODS: Cryopreserved day 3 embryos were thawed and from surviving embryos two blastomeres were biopsied. FISH analysis was performed for chromosomes 1, 7, 13, 15, 16, 18, 21, 22, X and Y. After biopsy, the embryos were cultured until day 5 and further analysed using the same probe panels. RESULTS: In all, 17 embryos were available with a diagnosis based on two blastomeres on day 3 and confirmatory studies on day 5. In 10 of these 17 cases the initial diagnosis could be confirmed. However, in only six cases cytogenetic results were concordant. Besides the 10 cases with a ‘correct’ diagnosis, there were six false positive results and one false negative, all involving mosaicism. CONCLUSIONS: Investigating the chromosomal constitution of two blastomere nuclei offers a good opportunity to study the incidence of chromosomal mosaicism in early embryo development. The confirmation rate of the results obtained on day 3 depends on the interpretation and is higher when considered from a clinical than from a cytogenetic point of view. Key words:
Key words: aneuploidy/cryopreservation/embryo biopsy/FISH/chromosomal mosaicism
Accepted October 13, 2003
Article
Fluorescence in situ hybridization analysis of two blastomeres from day 3 frozen-thawed embryos followed by analysis of the remaining embryo on day 5
2 Department of Clinical Genetics, Erasmus Medical Centre, Dr. Molewaterplein 40, 3015 GD, Rotterdam, The Netherlands
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