Division of Surgery and Cancer, Institute of Developmental Reproductive & Developmental Biology, Imperial College London, Chelsea and Westminster Hospital Campus, London, UK.
Division of Surgery and Cancer, Institute of Reproductive & Developmental Biology, Imperial College London, Hammersmith Hospital Campus, London, UK.
Hum Reprod Update. 2021 Aug 20;27(5):944-966. doi: 10.1093/humupd/dmab013.
In pre-implantation genetic testing (PGT), fertile couples undergo IVF with genetic testing of embryos to avoid conceptions with a genetic condition. There is an exponentially increasing uptake with over 600 applications listed by the Human Fertilisation and Embryology Authority in the UK. The psychological aspects of the decision-making process and the experience of PGT, however, are relatively underevaluated, with the potential to leave patients unsupported in their journeys.
In this review, we aim to comprehensively report on every aspect of couples' experiences of PGT. We consider what motivates users, the practical and ethical decisions involved and how couples navigate the decision-making process. Additionally, we report on the social and psychological impact on couples who are actively undergoing or have completed the PGT process.
A systematic search of English peer-reviewed journals of three computerized databases was undertaken following PRISMA guidelines. Studies that examined the motivations, attitudes, decision-making factors and experiences of patients who have been actively engaged in the PGT process were included. No restrictions were placed on study design or date of publication. Studies examining patients using PGT in a hypothetical context or solely using PGT for aneuploidy were excluded. Qualitative data were extracted using thematic analysis.
The main outcomes were patient motivations, deciding factors and attitudes, as well as the patient experience of coming to a decision and going through PGT.Patients were primarily motivated by the desire to have a healthy child and to avoid termination of pregnancy. Those with a sick child or previous experience of termination were more likely to use PGT. Patients also felt compelled to make use of the technology available, either from a moral responsibility to do so or to avoid feelings of guilt if not. The main factors considered when deciding to use PGT were the need for IVF and the acceptability of the technology, the financial cost of the procedure and one's ethical standpoint on the creation and manipulation of embryos. There was a general consensus that PGT should be applied to lethal or severe childhood disease but less agreement on use for adult onset or variable expression conditions. There was an agreement that it should not be used to select for aesthetic traits and a frustration with the views of PGT in society. We report that couples find it difficult to consider all of the benefits and costs of PGT, resulting in ambivalence and prolonged indecision. After deciding on PGT use, we found that patients find the process extremely impractical and psychologically demanding.
This review aimed to summarize the current knowledge on how patients decide to use and experience PGT and to make suggestions to incorporate the findings into clinical practice. We cannot stress enough the importance of holistic evaluation of patients and thorough counselling prior to and during PGT use from a multidisciplinary team that includes geneticists, IVF clinicians, psychologists and also patient support groups. Large prospective studies using a validated psychological tool at various stages of the PGT process would provide an invaluable database for professionals to better aid patients in their decision-making and to improve the patient experience.
在胚胎植入前遗传学检测（PGT）中，生育能力正常的夫妇通过体外受精（IVF）并对胚胎进行基因检测，以避免怀上患有遗传疾病的孩子。英国人类受精与胚胎管理局列出了超过 600 份的申请，这一技术的应用呈指数级增长。然而，人们对决策过程的心理方面以及 PGT 的体验相对评估不足，这可能导致患者在治疗过程中得不到支持。
在这篇综述中，我们旨在全面报告夫妇在 PGT 中的体验的各个方面。我们考虑了促使用户使用 PGT 的动机、所涉及的实际和伦理决策，以及夫妇如何在决策过程中进行导航。此外，我们还报告了对正在接受或已经完成 PGT 过程的夫妇的社会和心理影响。
按照 PRISMA 指南，对三个计算机化数据库的英文同行评议期刊进行了系统搜索。纳入了研究患者动机、态度、决策因素和体验的研究，这些患者积极参与了 PGT 过程。未对研究设计或出版日期进行限制。排除了仅使用 PGT 进行非整倍体检测或仅在假设情况下使用 PGT 的研究。使用主题分析提取定性数据。
主要结果是患者的动机、决策因素和态度，以及患者做出决策和接受 PGT 治疗的体验。患者主要是出于拥有健康孩子和避免终止妊娠的愿望而选择 PGT。那些有患病孩子或有终止妊娠经历的人更有可能使用 PGT。患者也感到有必要利用现有的技术，无论是出于道德责任还是不这样做会感到内疚。在决定使用 PGT 时，主要考虑的因素包括是否需要进行 IVF 和对技术的接受程度、程序的财务成本以及对胚胎的创造和操纵的伦理立场。人们普遍认为 PGT 应该用于治疗致命或严重的儿童疾病，但对于成人发病或表现可变的疾病的应用则意见不一。大家一致认为，PGT 不应该用于选择美容特征，也对社会对 PGT 的看法感到沮丧。我们报告说，夫妇发现很难考虑 PGT 的所有好处和成本，导致犹豫不决和决策过程延长。在决定使用 PGT 后，我们发现患者发现该过程非常不切实际，而且在心理上要求很高。
本综述旨在总结目前关于患者决定使用和体验 PGT 的知识，并提出将这些发现纳入临床实践的建议。我们再怎么强调全面评估患者并在多学科团队（包括遗传学家、IVF 临床医生、心理学家和患者支持团体）的指导下，在 PGT 使用之前和期间进行彻底咨询的重要性都不为过。在 PGT 过程的各个阶段使用经过验证的心理工具进行大型前瞻性研究，将为专业人员提供宝贵的数据库，以帮助患者更好地做出决策，并改善患者的体验。
