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Hum. Reprod. Advance Access originally published online on January 29, 2007
Human Reproduction 2007 22(5):1443-1449; doi:10.1093/humrep/del506
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© The Author 2007. 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

Blastocyst biopsy versus cleavage stage biopsy and blastocyst transfer for preimplantation genetic diagnosis of beta-thalassaemia: a pilot study

G. Kokkali1,2,6, J. Traeger-Synodinos2, C. Vrettou2,3, D. Stavrou1, G.M. Jones4, D.S. Cram4,5, E. Makrakis1, A.O. Trounson4,5, E. Kanavakis2 and K. Pantos1

1 Centre for Human Reproduction, Genesis Hospital, Athens, Greece 2 Laboratory of Medical Genetics, Athens University 3 Research Institute for the Study of Genetic and Malignant Disorders in Childhood, St Sophia's Children's Hospital, Athens, Greece 4 Monash Immunology and Stem Cell Laboratories, Monash University, Melbourne, Australia 5 Monash IVF, Melbourne, Australia

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

BACKGROUND: Trophectoderm biopsy at the blastocyst stage is an emerging approach in preimplantation genetic diagnosis (PGD). This study aimed to compare genotyping success and implantation rates in PGD cycles for beta-thalassaemia following biopsy at the cleavage versus the blastocyst stage, with transfer of blastocysts.

METHODS: This pilot study included 20 cycles: Group A: 10 cycles, day 3 blastomere biopsy, day 5 transfer; Group B: 10 cycles, day 5 trophectoderm biopsy, day 6 transfer. Standard-assisted reproduction and laser biopsy procedures were used. Biopsied cells were genotyped using real-time PCR multiplexed with fluorescent microsatellite analysis.

RESULTS: In Group A, 131 fertilized eggs developed to 101 embryos suitable for single blastomere biopsy; 76/101 blastomeres were diagnosed (75.2%), 30 unaffected blastocysts were transferred resulting in six pregnancies (eight fetal hearts, 26.7% implantation rate). In Group B, 128 fertilized eggs developed to 53 blastocysts for trophectoderm biopsy (four to five cells), with 50/53 blastocysts diagnosed (94.3%), 21 unaffected blastocysts transferred and 6 pregnancies initiated (10 fetal hearts, 47.6% implantation rate). Overall, nine pregnancies reached >10 weeks gestation and were confirmed unaffected by prenatal diagnosis, with 12 healthy babies born.

CONCLUSIONS: This pilot study suggests that trophectoderm biopsy and blastocyst transfer may be more advantageous than cleavage stage biopsy with respect to outcome of PGD for monogenic diseases.

Key words: biopsy/blastocyst/laser/preimplantation genetic diagnosis/beta-thalassaemia

Submitted on November 24, 2005; resubmitted on July 4, 2006; resubmitted on September 21, 2006; accepted on September 25, 2006.


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