Bredenoord A L, Dondorp W, Pennings G, De Die-Smulders C E M, De Wert G
Maastricht University, Health, Ethics and Society, Maastricht, The Netherlands.
Hum Reprod. 2008 Nov;23(11):2392-401. doi: 10.1093/humrep/den290. Epub 2008 Jul 29.
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.
本文讨论了针对线粒体DNA（mtDNA）疾病引入植入前基因诊断（PGD）的利弊，这些疾病包括神经源性肌无力、共济失调、色素性视网膜炎（NARP）/Leigh综合征、线粒体肌病、脑病、乳酸性酸中毒和卒中样发作（MELAS）、私人mtDNA突变以及Leber遗传性视神经病变（LHON）。尽管对于mtDNA疾病的PGD经验很少，但可以合理地假设，在许多情况下，所能做到的最好的事情就是选择“受影响最小”的胚胎进行移植。因此，在这些情况下，PGD不是向“准父母”承诺生出一个健康的孩子，而只能旨在降低生殖风险。从伦理角度来看，这引发了有关父母责任和医疗责任的具有挑战性的问题。支持PGD的主要论点是，它为有风险的夫妇提供了降低生出严重患病孩子几率的机会。潜在的反对意见有很多，但我们得出的结论是，没有一个能提供令人信服的道德论据来认为降低风险的PGD是不可接受的。然而，在临床实践中引入PGD的这种新应用将引发关于确定其合理使用条件的进一步复杂问题。
