Department of Anatomical, Histological, Forensic and Orthopedic Sciences, Sapienza University of Rome, 00161 Rome, Italy.
Molecular Diagnosis and Characterization of Pathogenic Mechanisms of Rare Genetic Diseases, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy.
Genes (Basel). 2021 Jan 30;12(2):204. doi: 10.3390/genes12020204.
New technologies such as non-invasive prenatal testing (NIPT), capable of analyzing cell-free fetal DNA in the maternal bloodstream, have become increasingly widespread and available, which has in turn led to ethical and policy challenges that need addressing. NIPT is not yet a diagnostic tool, but can still provide information about fetal genetic characteristics (including sex) very early in pregnancy, and there is no denying that it offers valuable opportunities for pregnant women, particularly those at high risk of having a child with severe genetic disorders or seeking an alternative to invasive prenatal testing. Nonetheless, the ethical, legal and social implications (ELSI) include multiple aspects of informed decision-making, which can entail risks for the individual right to procreative autonomy, in addition to the potential threats posed by sex-selective termination of pregnancy (in light of the information about fetal sex within the first trimester), and the stigmatization and discrimination of disabled individuals. After taking such daunting challenges into account and addressing NIPT-related medicolegal complexities, the review's authors highlight the need for an ethically and legally sustainable framework for the implementation of NIPT, which seems poised to become a diagnostic tool, as its scope is likely to broaden in the near future.
新技术如非侵入性产前检测（NIPT），能够分析母体血液中的游离胎儿 DNA，已经越来越普及，这也带来了需要解决的伦理和政策挑战。NIPT 目前还不是一种诊断工具，但仍然可以在怀孕早期提供有关胎儿遗传特征（包括性别）的信息，而且不可否认，它为孕妇提供了宝贵的机会，特别是那些有生育严重遗传疾病孩子风险的孕妇，或者寻求替代侵入性产前检测的孕妇。然而，其伦理、法律和社会影响（ELSI）包括知情决策的多个方面，这可能会对个人的生殖自主权利带来风险，除此之外，还可能存在因胎儿性别信息而导致的妊娠选择性终止（在孕早期）的威胁，以及对残疾个体的污名化和歧视。在考虑到这些令人望而生畏的挑战并解决与 NIPT 相关的医学法律复杂性之后，审查的作者强调了需要为 NIPT 的实施建立一个在伦理和法律上可持续的框架，因为 NIPT 似乎即将成为一种诊断工具，因为它的范围可能在不久的将来扩大。
