Kaye Dan Kabonge
Department of Obstetrics and Gynecology, Makerere University College of Health Sciences, Kampala, Uganda.
Forgarty African Bioethics Postdoctoral Fellow at Johns Hopkins Berman Institute of Bioethics and the School of Public Health, Baltimore, MD, USA.
Matern Health Neonatol Perinatol. 2023 Feb 3;9(1):1. doi: 10.1186/s40748-023-00146-4.
For women of advanced maternal age or couples with high risk of genetic mutations, the ability to screen for embryos free of certain genetic mutations is reassuring, as it provides opportunity to address age-related decline in fertility through preimplantation genetic testing. This procedure has potential to facilitate better embryo selection, improve implantation rates with single embryo transfer and reduce miscarriage rates, among others, yet confers some risk to the embryo and additional costs of assisted reproductive technology. This raises questions whether, when and which patients should receive routine PGT-A prior to embryo transfer.
Prenatal diagnostic procedures refer to tests done when one or both genetic parents has a known genetic disorder (or has worries about the disorder) and testing is performed on them, their gametes or on the embryos to determine if the latter is likely to carry a genetic disorder. PGT is used to identify genetic defects in gametes or embryos (often created through in vitro fertilization (IVF). The procedures generate immense potential to improve health and wellbeing by preventing conception or birth of babies with undesirable traits, life-limiting conditions and even lethal conditions. However, they generate a lot of information, which often may challenge decision-making ability of healthcare providers and parents, and raise ethical challenges.
Prenatal diagnostic procedures have potential to address uncertainty and risk of having a child affected with a genetic disease. They, however, often raise own uncertainty and controversies, whose origin, manifestation and related ethical issues are presented. There is need to develop individual and couple decision support tools that incorporate patients' values and concerns in the decision-making process in order to promote more informed decisions, during counseling.
对于高龄产妇或有基因突变高风险的夫妇而言，筛选出无特定基因突变的胚胎的能力让人安心，因为这为通过植入前基因检测来应对与年龄相关的生育能力下降提供了机会。该程序有可能促进更好的胚胎选择，提高单胚胎移植的着床率并降低流产率等，但会给胚胎带来一些风险以及辅助生殖技术的额外成本。这就引发了关于哪些患者、何时以及是否应在胚胎移植前接受常规胚胎植入前基因检测非整倍体筛查（PGT-A）的问题。
产前诊断程序是指当一方或双方基因父母患有已知的遗传疾病（或担心患有该疾病）时，对他们、他们的配子或胚胎进行检测，以确定后者是否可能携带遗传疾病。PGT用于识别配子或胚胎中的基因缺陷（通常是通过体外受精（IVF）产生的）。这些程序通过防止具有不良特征、限制生命条件甚至致命条件的婴儿受孕或出生，产生了改善健康和福祉的巨大潜力。然而，它们也产生了大量信息，这往往可能挑战医疗保健提供者和父母的决策能力，并引发伦理挑战。
产前诊断程序有潜力解决生育患有遗传疾病孩子的不确定性和风险。然而，它们往往也会引发自身的不确定性和争议，本文介绍了其起源、表现及相关伦理问题。有必要开发个人和夫妇决策支持工具，在决策过程中纳入患者的价值观和担忧，以便在咨询过程中促进更明智的决策。
