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Hum. Reprod. Advance Access originally published online on May 5, 2005
Human Reproduction 2005 20(7):1855-1859; doi:10.1093/humrep/deh893
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© The Author 2005. 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{at}oupjournals.org

Birth of a healthy infant following trophectoderm biopsy from blastocysts for PGD of {beta}-thalassaemia major: Case report

G. Kokkali1,2,5, C. Vrettou2, J. Traeger-Synodinos2, G.M. Jones3, D.S. Cram3,4, D. Stavrou1, A.O. Trounson3,4, E. Kanavakis2 and K. Pantos1

1 Centre for Human Reproduction, Genesis Hospital and 2 Laboratory of Medical Genetics, Athens University, St Sophia's Children's Hospital, Athens, Greece, 3 Monash Immunology and Stem Cell Laboratories, Monash University and 4 Monash IVF, Melbourne, Australia

5 To whom correspondence should be addressed at: Centre for Human Reproduction, Genesis Hospital, Papanikoli Avenue 14–16, Halandri, Athens 152-32, Greece. Email: georgiakokkali{at}mail.com

PGD is a well accepted reproductive choice for couples at genetic risk and involves the diagnosis and transfer of unaffected IVF embryos. PGD for monogenetic diseases is most commonly accomplished by the biopsy of one or two blastomeres from cleavage stage embryos, followed by PCR-based protocols. However, PCR-based DNA analysis of one or two cells is subject to several problems, including total PCR failure, or failure of one allele to amplify. Trophectoderm biopsy at the blastocyst stage enables the removal of more than two cells for diagnosis while being non-invasive to the inner cell mass which is destined for fetal development. The aim of this study was to develop a safe, reliable technique for the biopsy of trophectoderm cells from human blastocysts. This case report demonstrates that removal of trophectoderm cells prior to blastocyst transfer is compatible with implantation and development to term. Here we report successful PGD for {beta}-thalassaemia following trophectoderm cell biopsy from blastocysts and the birth of a healthy infant.

Key words: biopsy/blastocyst/{beta}-thalassaemia/laser/PGD


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