Preimplantation genetic testing (PGT) involves testing embryos created through in vitro fertilization for the presence of hereditary genetic disorders and chromosome abnormalities.PGT for monogenic conditions (PGT-M) is generally performed for childhood-onset, lethal disorders, but is increasingly accepted for certain adult-onset conditions, conditions with available treatment options or conditions with lower penetrance. Furthermore, the development of PGT for polygenic conditions (PGT-P) makes ethical questions regarding PGT indications imperative. A systematic review was therefore performed to gather and analyse studies on the perspectives of healthcare professionals on the appropriate scope of PGT, with the aim of getting insights into the concerns about the scope of PGT now and in the near future. PRISMA guidelines were followed. Twelve qualitative articles were included. The main themes extracted were the scope of PGT and decision-making about PGT. Defining 'a serious genetic condition' was seen as complex, but severity, high penetrance and absence of treatability and patients' experience were seen as relevant indications to determine the appropriateness of PGT. In navigating the decision-making processes with patients, professionals experienced friction between setting limits and respecting patients' autonomy. Such friction and ethical dilemmas around seriousness, informed decision-making and preventative medicine show that while expanding the list of possible PGT indications and the development of PGT-P could augment patients' reproductive autonomy, it could also lead to an increased reproductive 'burden' for patients. These insights are crucial for establishing guidelines that help healthcare professionals navigate ethical tensions associated with PGT.
Non-invasive prenatal screening: detection of sex chromosomal aneuploidies. Desirability of reporting these findings to pregnant women On 30 April 2021, the Belgian Advisory Committee on Bioethics issued opinion No. 76 regarding the desirability to report sex chromosomal aneuploidies (SCAs) detected by non-invasive prenatal testing (NIPT). Debate is ongoing in the medical community as to whether it is appropriate to report an SCA of the fetus to the pregnant woman when this abnormality is detected by a genome-wide NIPT. This question presupposes that SCAs should be screened for in the first place. This does not necessarily have to be the case, neither technically nor ethically: if a targeted genome screening was to be conducted instead of the nowadays preferred genome-wide approach, these SCAs would not be automatically identified. The Committee argues that there are insufficient reasons for including SCAs in standard prenatal NIPT screening and reporting. Good quality pre- and post-test counseling is paramount to make sure that expectant parents are making decisions they feel comfortable with down the line. This requires manageable information about the general aim, scope and method of NIPT screening, the reliability and validity of the test, the need to perform invasive prenatal testing in case of positive results, clarity on what the results may imply, and information that extends beyond medical descriptions of the conditions screened for. The Committee stresses that this condition is, at this moment, insufficiently met.
Informed decisions concerning non-invasive prenatal testing (NIPT) seem contingent on health professionals and expectant parents (1) having access to multifaceted information about the procedure of NIPT and the subsequent choices; and (2) actively reflecting about what prenatal screening means beyond the medical level (including personal values and beliefs). International studies show that many pregnant women do not make informed decisions about prenatal testing (Beulen et al. 2016). Interviews we conducted with various stakeholders in Belgium show similar tendencies.Based on transdisciplinary research (Dehens et al. 2017)—which included stakeholder interviews, and a review of academic literature, current prenatal screening guidelines, and good practices—we propose three initiatives that can help stimulate informed choices. The initiatives are: (1) a decision aid that encourages expectant parents to think about NIPT, its possible outcomes, and the conditions NIPT screens for (see e.g. Smith et al. 2018; Carslon et al. 2019); (2) the creation of a nation-wide protocol (draaiboek) for prenatal screening outlining what information should be provided at what point during a pregnancy, in what way, and by whom (see for instance the Draaiboek Prenatale screening down-, edwards- en patausyndroom en structureel echoscopisch onderzoek versie 9.0 in the Netherlands); and (3) an online platform featuring a balanced representation of testimonials about various experiences with the main conditions NIPT screens for taking Braverman (2008) as a starting point. These initiatives were discussed (conceptually) at a round table discussion with a broad range of stakeholders (May 8, 2019). A concluding poll showed <target target-type="page-num" id="p-20"/>a strong consensus concerning the need to develop a prenatal screening protocol and a decision aid in order to help health professionals and expectant parents, navigate through prenatal screening programs in Belgium. Anticipating the widening scope of genetic tests, a general plan of action is necessary to ensure counseling possibilities and informed decisions.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.