de Jong Antina, Maya Idit, van Lith Jan M M
Bioethics. 2015 Jan;29(1):1-8. doi: 10.1111/bioe.12123.
Prenatal screening pathways, as nowadays offered in most Western countries consist of similar tests. First, a risk-assessment test for major aneuploides is offered to pregnant women. In case of an increased risk, invasive diagnostic tests, entailing a miscarriage risk, are offered. For decades, only conventional karyotyping was used for final diagnosis. Moreover, several foetal ultrasound scans are offered to detect major congenital anomalies, but the same scans also provide relevant information for optimal support of the pregnancy and the delivery. Recent developments in prenatal screening include the application of microarrays that allow for identifying a much broader range of abnomalities than karyotyping, and non-invasive prenatal testing (NIPT) that enables reducing the number of invasive tests for aneuploidies considerably. In the future, broad NIPT may become possible and affordable. This article will briefly address the ethical issues raised by these technological developments. First, a safe NIPT may lead to routinisation and as such challenge the central issue of informed consent and the aim of prenatal screening: to offer opportunity for autonomous reproductive choice. Widening the scope of prenatal screening also raises the question to what extent 'reproductive autonomy' is meant to expand. Finally, if the same test is used for two different aims, namely detection of foetal anomalies and pregnancy-related problems, non-directive counselling can no longer be taken as a standard. Our broad outline of the ethical issues is meant as an introduction into the more detailed ethical discussions about prenatal screening in the other articles of this special issue.
目前大多数西方国家提供的产前筛查途径包含类似的检测。首先，会为孕妇提供一项针对主要非整倍体的风险评估检测。如果风险增加，则会提供有流产风险的侵入性诊断检测。几十年来，只有传统的核型分析用于最终诊断。此外，还会进行几次胎儿超声扫描以检测主要的先天性异常，但同样的扫描也为孕期和分娩的最佳支持提供了相关信息。产前筛查的最新进展包括应用微阵列，其能够识别比核型分析范围更广的异常情况，以及无创产前检测（NIPT），这能够大幅减少非整倍体侵入性检测的数量。未来，广泛的无创产前检测可能会变得可行且经济实惠。本文将简要探讨这些技术发展引发的伦理问题。首先，安全的无创产前检测可能会导致常规化，从而挑战知情同意这一核心问题以及产前筛查的目标：提供自主生殖选择的机会。扩大产前筛查的范围也引发了“生殖自主权”在何种程度上应予以扩展的问题。最后，如果同一检测用于两个不同目的，即检测胎儿异常和与妊娠相关的问题，非指导性咨询就不能再被视为标准。我们对伦理问题的大致概述旨在为本期特刊其他文章中关于产前筛查更详细的伦理讨论做一个引言。
