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Hum. Reprod. Advance Access originally published online on January 20, 2009
Human Reproduction 2009 24(5):1221-1228; doi:10.1093/humrep/den488
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© The Author 2009. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

The causes of misdiagnosis and adverse outcomes in PGD

L. Wilton1, A. Thornhill2, J. Traeger-Synodinos3, K.D. Sermon4 and J.C. Harper5,6

1 Melbourne IVF, Australia 2 London Bridge, London, UK 3 Laboratory of Medical Genetics, University of Athens, Athens, Greece 4 Department of Embryology and Genetics of the VUB and Centre for Medical Genetics of the Universitair Ziekenhuis, Belgium 5 UCL Centre for PGD, Institute for Women's Health, University College London, UK

6 Correspondence address. Tel: +1-171-209-6072; Fax: +1-171-383-7429; E-mail: joyce.harper{at}ucl.ac.uk

The European Society of Human Reproduction and Embryology PGD Consortium has collected data on PGD cycles and deliveries since 1997. From 15 158 cycles, 24 misdiagnoses and adverse outcomes have been reported; 12/2538 cycles after polymerase chain reaction and 12/12 620 cycles after fluorescence in situ hybridization. The causes of misdiagnosis include confusion of embryo and cell number, transfer of the wrong embryo, maternal or paternal contamination, allele dropout, use of incorrect and inappropriate probes or primers, probe or primer failure and chromosomal mosaicism. Unprotected sex has been mentioned as a cause of adverse outcome not related to technical and human errors. The majority of these causes can be prevented by using robust diagnostic methods within laboratories working to appropriate quality standards. However, diagnosis from a single cell remains a technically challenging procedure, and the risk of misdiagnosis cannot be eliminated.

Key words: PGD/preimplantation genetic screening/misdiagnosis/contamination/allele dropout

Submitted on June 30, 2008; resubmitted on October 30, 2008; accepted on November 11, 2008.


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