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Human Reproduction Update Advance Access originally published online on December 3, 2007
Human Reproduction Update 2008 14(1):83-94; doi:10.1093/humupd/dmm037
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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

Dealing with uncertainties: ethics of prenatal diagnosis and preimplantation genetic diagnosis to prevent mitochondrial disorders

A.L. Bredenoord1,4, G. Pennings2, H.J. Smeets3 and G. de Wert1

1 Department of Health, Ethics and Society, Faculty of Health, Medicine and Life Sciences, Maastricht University, The Netherlands 2 Bioethics Institute Ghent, Ghent University, Belgium 3 Department of Genetics and Cell Biology, Faculty of Health,Medicine and Life Sciences, Maastricht University, The Netherlands

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

This paper aims to address the ethical issues regarding prenatal diagnosis and preimplantation genetic diagnosis (PGD) of mitochondrial disorders. Owing to the absence of effective treatment, the prevention of the transmission of mitochondrial disorders is considered to be of key importance. The characteristics of mtDNA, such as heteroplasmy and the genetic bottleneck, make it difficult to estimate recurrence risks correctly and to provide an accurate prognosis for many mtDNA mutations. A limited number of mtDNA mutations allow reliable predictions, though results in the ‘grey zone’ are problematic. Both prenatal diagnosis and PGD for mtDNA disorders are complicated by the interpretation of the test results. As a consequence, these applications confront both clinical practice and society at large with several ethical questions and issues for further debate, among which the acceptability of suboptimal genetic testing, the value and research use of embryos, the evaluation of late abortion, the ethics of PGD for disorders with an incomplete penetrance and variable expression, the possible transfer of embryos with residual health risks, the acceptability of risks and drawbacks of genetic reproductive technology in general, and the scope and limits of reproductive autonomy and professional responsibility.

Key words: ethics / prenatal diagnosis / preimplantation genetic diagnosis / mitochondrial disorders

Received on June 28, 2007; revised September 26, 2007; accepted on October 18, 2007


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A.L. Bredenoord, W. Dondorp, G. Pennings, C.E.M. De Die-Smulders, and G. De Wert
PGD to reduce reproductive risk: the case of mitochondrial DNA disorders
Hum. Reprod., July 29, 2008; (2008) den290v1.
[Abstract] [Full Text] [PDF]


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