Hum. Reprod. Advance Access originally published online on July 22, 2004
Human Reproduction 2004 19(9):2118-2125; doi:10.1093/humrep/deh367
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Reliability of comparative genomic hybridization to detect chromosome abnormalities in first polar bodies and metaphase II oocytes
1 Departament de Biologia Cel.lular, Fisiologia i Immunologia, Unitat de Medicina, Universitat Autònoma de Barcelona, E-08193 Bellaterra, Spain, 2 The Institute for Reproductive Medicine and Science, St Barnabas Medical Center, 101 Old Short Hills Road, Suite 501, West Orange, NJ 07052, USA and 3 Servei de Medicina de la Reproducció, Institut Universitari Dexeus, Pg. Bonanova 89-91, E-08017, Barcelona, Spain
4 To whom correspondence should be addressed at: Departament de Biologia Cel.lular, Fisiologia i Immunologia, Unitat de Biologia, Facultat de Medicina, Universitat Autònoma de Barcelona, E-08193 Bellaterra, Spain. Tel: +34 935811175; Fax:+34 935811025; Email: cristina.gutierrez{at}uab.es; joaquima.navarro{at}uab.es
BACKGROUND: Preimplantation Genetic Diagnosis (PGD) using FISH to analyze up to nine chromosomes to discard chromosomally abnormal embryos has resulted in an increase of pregnancy rates in certain groups of patients. However, the number of chromosomes that can be analyzed is a clear limitation. We evaluate the reliability of using comparative genomic hybridization (CGH) to detect the whole set of chromosomes, as an alternative to PGD using FISH. METHODS and RESULTS: We have analysed by CGH both, first polar bodies (1PBs) and metaphase II (MII) oocytes from 30 oocytes donated by 24 women. The aneuploidy rate was 48%. Considering two maternal age groups, a higher number of chromosome abnormalities were detected in the older group of oocytes (23% versus 75%, P<0.02). About 33% of the 1PB-MII oocyte doublets diagnosed as aneuploid by CGH would have been misdiagnosed as normal if FISH with nine chromosome probes had been used. CONCLUSION: We demonstrate the reliability of 1PB analysis by CGH, to detect almost any chromosome abnormality in oocytes as well as unbalanced segregations of maternal translocations in a time frame compatible with regular in vitro fertilization (IVF). The selection of euploid oocytes could help to increase implantation and pregnancy rates of patients undergoing IVF treatment.
Key words: aneuploidy/comparative genomic hybridization/first polar body/oocyte/preimplantation genetic diagnosis
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