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Hum. Reprod. Advance Access published online on July 29, 2008

Human Reproduction, doi:10.1093/humrep/den290
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© The Author 2008. 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

OPINION

PGD to reduce reproductive risk: the case of mitochondrial DNA disorders

A.L. Bredenoord1,4, W. Dondorp1, G. Pennings2, C.E.M. De Die-Smulders3 and G. De Wert1

1 Maastricht University, Health, Ethics and Society and Research Institute GROW, Maastricht, The Netherlands 2 Ghent University, Bioethics Institute Ghent, Ghent, Belgium 3 University Hospital Maastricht Clinical Genetics, Maastricht, The Netherlands

4 Correspondence address. E-mail: a.bredenoord{at}zw.unimaas.nl

This paper discusses the pros and cons of introducing PGD for mitochondrial DNA (mtDNA) disorders such as NARP (Neurogenic muscle weakness, Ataxia, Retinis Pigmentosa)/Leigh, MELAS (Mitochondrial myopathy, Encephalopathy, Lactic acidosis, and Stroke-like episodes), private mtDNA mutations and LHON (Leber Hereditary Optic Neuropathy). Although there is little experience with PGD for mtDNA disorders, it is reasonable to assume that in many cases, the best one can achieve is the selection of the ‘least’ affected embryos for transfer. So instead of ‘promising’ parents a healthy child, PGD in these cases can only aim at reducing reproductive risk. From an ethical point of view, this raises challenging questions about parental and medical responsibilities. The main argument in favour of PGD is that it offers couples at risk the opportunity of reducing their chances of having a severely affected child. Potential objections are manifold, but we conclude that none of them supplies convincing moral arguments to regard risk-reducing PGD as unacceptable. Nevertheless, introducing this new application of PGD in clinical practice will raise further complex issues of determining conditions for its responsible use.

Key words: PGD/mitochondrial DNA/reproductive risk/ethics/genetic disorders


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