In the past decade, genetic testing for cardiac disease has become part of routine clinical care. A genetic diagnosis provides the possibility to clarify risk for relatives. For family planning, a genetic diagnosis provides reproductive options, including prenatal diagnosis and preimplantation genetic testing, that can prevent an affected parent from having a child with the genetic predisposition. Owing to the complex genetic architecture of cardiac diseases, characterized by incomplete disease penetrance and the interplay between monogenic and polygenic variants, the risk reduction that can be achieved using reproductive genetic testing varies among individuals. Globally, disparities, including regulatory and financial barriers, in access to reproductive genetic tests exist. Although reproductive options are gaining a prominent position in the management of patients with inherited cardiac diseases, specific policies and guidance are lacking. Guidelines recommend that prenatal diagnosis and preimplantation genetic testing are options that should be discussed with families. Health-care professionals should, therefore, be aware of the possibilities and feel confident to discuss the benefits and challenges. In this Review, we provide an overview of the reproductive options in the context of inherited cardiac diseases, covering the genetic, technical, psychosocial and equity considerations, to prepare health-care professionals for discussions with their patients.

在过去的十年中，心脏病的基因检测已成为常规临床护理的一部分。基因诊断为明确亲属的风险提供了可能性。对于计划生育，基因诊断提供了生殖选择，包括产前诊断和植入前基因检测，可以防止受影响的父母生出患有遗传倾向的孩子。由于心脏病的复杂遗传结构，其特点是疾病外显率不完全以及单基因和多基因变异之间的相互作用，因此使用生殖基因检测可以实现的风险降低因人而异。全球范围内，在获得生殖基因检测方面存在差异，包括监管和财务障碍。尽管生殖选择在遗传性心脏病患者的治疗中占据着重要地位，但缺乏具体的政策和指导。指南建议应与家人讨论产前诊断和植入前基因检测的选择。因此，医疗保健专业人员应该意识到其中的可能性，并有信心讨论其好处和挑战。在这篇综述中，我们概述了遗传性心脏病背景下的生殖选择，涵盖遗传、技术、社会心理和公平方面的考虑，为医疗保健专业人员与患者的讨论做好准备。