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Hum. Reprod. Advance Access published online on March 10, 2009
Human Reproduction, doi:10.1093/humrep/dep034
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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

Preimplantation genetic diagnosis using fluorescent in situ hybridization for cancer predisposition syndromes caused by microdeletions

E. Vanneste1,2,{dagger}, C. Melotte1,{dagger}, S. Debrock2, T. D’Hooghe2, H. Brems1, J.P. Fryns1, E. Legius1 and J.R. Vermeesch1,3

1 Center for Human Genetics, University Hospital Leuven, 3000 Leuven, Belgium 2 Leuven University Fertility Center, University Hospital Leuven, 3000 Leuven, Belgium

3 Correspondence address. E-mail: joris.vermeesch{at}uz.kuleuven.be

BACKGROUND: Neurofibromatosis type 1 (NF1) and Von Hippel-Lindau (VHL) are dominantly inherited late onset cancer predisposition syndromes caused by mutations in the respective tumor suppressor genes (TSGs) NF1 and VHL. Less frequently TSGs are partially or fully deleted. Preimplantation genetic diagnosis (PGD) for cancer predisposition can be applied to select against the mutant allele in carrier couples. However, microdeletions within a single cell can, at present, not be detected by molecular diagnostic methods usually applied for PGD of monogenic disorders.

METHODS: We performed PGD using interphase fluorescent in situ hybridization (FISH) on single blastomeres for three couples of which the women carried a microdeletion. One patient had the recurrent 1.4 Mb microdeletion covering NF1, a second suffered from an intragenic NF1 deletion and the last had a deletion of VHL.

RESULTS: In total, seven PGD cycles were carried out for these couples, which resulted in the delivery of a healthy twin for the VHL microdeletion carrier.

CONCLUSIONS: FISH-based PGD is a straightforward approach to detect (micro)deletions in single blastomeres. It seems likely that the number of conditions for which PGD-FISH is beneficial will increase rapidly with the advent of high-resolution arrays.

Key words: neurofibromatosis type 1/Von Hippel-Lindau/PGD/FISH

{dagger} These authors contributed equally.

Submitted on November 26, 2008; resubmitted on January 13, 2009; accepted on January 25, 2009.


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