Dondorp W J, Page-Christiaens G C M L, de Wert G M W R
Department of Health, Ethics and Society, Research Schools GROW, CAPHRI, Maastricht University, Maastricht, The Netherlands.
Wilhelmina Children's Hospital Birth Centre, Utrecht University Medical Centre, Utrecht, The Netherlands.
Clin Genet. 2016 May;89(5):531-8. doi: 10.1111/cge.12640. Epub 2015 Aug 2.
The practice of prenatal screening is undergoing important changes as a result of the introduction of genomic testing technologies at different stages of the screening trajectory. It is expected that eventually it will become possible to routinely obtain a comprehensive 'genome scan' of all fetuses. Although this will still take several years, there are clear continuities between present developments and this future scenario. As this review shows, behind the still limited scope of screening for common aneuploidies, a rapid widening of the range of conditions tested for is already taking shape at the invasive testing stage. But the continuities are not just technical; they are also ethical. If screening for Down's syndrome is a matter of providing autonomous reproductive choice, then why would providing the choice to have a full fetal genome scan be something entirely different? There is a clear need for a sustainable normative framework that will have to answer three challenges: the indeterminateness of the autonomy paradigm, the need to acknowledge the future child as an interested stakeholder, and the prospect of broad-scope genomic prenatal screening with a double purpose: autonomy and prevention.
由于在筛查过程的不同阶段引入了基因组检测技术，产前筛查的实践正在经历重大变革。预计最终将有可能常规地获取所有胎儿的全面“基因组扫描”。尽管这仍需数年时间，但当前的发展与未来的情景之间存在明显的连续性。正如本综述所示，在常见非整倍体筛查范围仍然有限的背后，侵入性检测阶段检测的病症范围正在迅速扩大。但这种连续性不仅体现在技术上，也体现在伦理上。如果唐氏综合征筛查是为了提供自主生殖选择，那么为什么提供进行完整胎儿基因组扫描的选择会完全不同呢？显然需要一个可持续的规范框架来应对三个挑战：自主范式的不确定性、承认未来孩子是相关利益方的必要性，以及具有双重目的（自主和预防）的广泛基因组产前筛查的前景。
