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A high degree of aneuploidy in frozen-thawed human preimplantation embryos
Authors:E Iwarsson  Monalill Lundqvist  José Inzunza  Lars Ährlund-Richter  Peter Sjöblom  Örjan Lundkvist  Niklas Simberg  Magnus Nordenskjöld  Elisabeth Blennow
Institution:(1) Department of Molecular Medicine, Karolinska Hospital, CMM L8:02, S-171 76 Stockholm, Sweden e-mail: Erik.Iwarsson@cmm.ki.se, Fax: +46 8 5177 36 20, Tel.: +46 8 5177 25 21, SE;(2) Department of Women’s and Children’s Health, Obstetrics and Gynaecology, University Hospital, Uppsala,;(3) The unit for Embryo and Genome Research, Clinical Research Centre, Huddinge University, Huddinge,;(4) Department of Clinical Sciences, Obstetrics and Gynaecology unit, Huddinge University Hospital, Huddinge,
Abstract:We have studied the chromosomal content in 68 normally fertilised freeze-thawed human embryos of good morphology from 34 patients with an average maternal age of 32,6 years. Forty embryos showed post-thaw cellular division and twenty-eight post-thaw cleavage arrest. After spreading of the embryos on microscope slides, analysis of chromosomes X, Y, 15, 16, 17 and 18 was performed using two rounds of fluorescent in situ hybridisation (FISH). According to the results, the embryos were divided into four groups: (I) normal, all nuclei uniformly diploid, (II) diploid mosaics, normal diploid blastomeres in combination with abnormal blastomeres, (III) abnormal, all nuclei abnormal, (IV) chaotic, the chromosome constitution varies randomly from cell to cell. Approximately 25% of the embryos had normal number of the chromosomes tested, while the majority of the embryos were abnormal. Most of the abnormal embryos were diploid mosaics (57%). This was true for the embryos showing cleavage division as well as the embryos showing cleavage arrest. Our data show a slightly higher incidence of abnormal embryos compared to those obtained with FISH in non-cryopreserved embryos and confirm that the majority of preimplantation embryos fertilised in vitro contain abnormal blastomeres. The results, mechanisms, significance and implications are discussed. Received: 19 November 1998 / Accepted: 4 March 1999
Keywords:Aneuploidy  Chromosomal abnormality  Fluorescent in situ hybridisation (FISH)  in vitro  fertilisation (IVF)  Preimplantation embryo  Preimplantation genetic diagnosis
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