In recent years, advances in genetic sequencing techniques and the analysis of sequencing data have significantly improved our ability to diagnose genetic kidney diseases. Identification of the disease-causing genetic variant(s) is crucial not only for prognostication and personalized management, but also for providing genetic counseling and guiding family planning decisions. It is particularly important that patients desiring children receive advice on their reproductive choices early, ideally before conception. This concise review focuses on the options available for prenatal and preimplantation genetic testing in the context of monogenic kidney diseases, including the latest progress and the legal and ethical issues associated with these reproductive technologies. Although these tests could be performed for all monogenic disorders where the disease-causing variant(s) has (have) been identified in the index patient, invasive prenatal testing is currently primarily performed for severe childhood-onset monogenic kidney disorders. Noninvasive prenatal diagnosis for monogenic disorders is a rapidly developing field that promises to provide an accurate and acceptable alternative to invasive procedures once several technical challenges have been addressed. Preimplantation genetic testing allows for the selection and implantation of embryos free from the disease-causing genetic variants, significantly lowering the risk of affected pregnancies. This option is becoming more popular among individuals with monogenic kidney diseases, particularly those with disorders that manifest later in life, such as autosomal dominant polycystic kidney disease. This review covers the procedure, its outcomes, and the technical, ethical and legal challenges of preimplantation genetic testing for monogenic kidney diseases.

中文翻译：

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单基因肾病的产前和植入前检测


近年来，基因测序技术的进步和测序数据分析显著提高了我们诊断遗传性肾病的能力。识别致病基因变异不仅对预后和个性化管理至关重要，而且对提供遗传咨询和指导计划生育决策也至关重要。尤为重要的是，希望生育的患者尽早接受有关其生殖选择的建议，最好是在受孕之前。本综述侧重于在单基因肾病背景下可用于产前和植入前基因检测的选择，包括最新进展以及与这些生殖技术相关的法律和伦理问题。尽管这些测试可以针对已在指示患者中发现致病变异的所有单基因疾病进行，但侵入性产前检测目前主要用于严重的儿童期发病的单基因肾病。单基因疾病的无创产前诊断是一个快速发展的领域，一旦解决了几个技术挑战，它有望提供一种准确且可接受的侵入性手术替代方案。植入前基因检测允许选择和植入没有致病基因变异的胚胎，从而显着降低受影响妊娠的风险。这种选择在单基因肾病患者中越来越受欢迎，尤其是那些患有晚年表现为疾病的人，例如常染色体显性遗传性多囊肾病。 本综述涵盖了单基因肾病植入前基因检测的程序、结果以及技术、伦理和法律挑战。