Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, 22100 Lund, Sweden.
Department of Clinical Genetics, Karolinska University Hospital, 17176 Solna, Sweden.
Genes (Basel). 2024 Sep 13;15(9):1205. doi: 10.3390/genes15091205.
Pregnancy planning and genetic testing (PPGT) has emerged as a tool in reproductive healthcare, offering parents-to-be insight in their risks of having a child with a genetic disorder. This paper reviews the advantages, drawbacks and challenges associated with PPGT, providing some practical guidance for health care professionals. Advantages include identification of genetic risks, a possibility to informed reproductive decision-making, and the potential to reduce the parents-to-be risk for an affected child. Challenges and drawbacks include provision of service, ethical considerations, genetic counselling complexities, and the need to increase public and professional awareness by comprehensive education and accessibility. Practical guidance involves considerations for selecting appropriate candidates, counselling strategies, and how to integrate PPGT into existing healthcare frameworks. By addressing these factors, PPGT can offer an increased reproductive informed choice for the individual and the couple reducing the burden of disease in the family.
生育计划和遗传检测(PPGT)已成为生殖保健领域的一种工具,为准父母提供了了解生育患有遗传疾病孩子风险的机会。本文综述了 PPGT 的优缺点和挑战,为医疗保健专业人员提供了一些实用的指导。其优点包括识别遗传风险、有机会进行知情的生殖决策,以及降低准父母生育患病孩子的风险。挑战和缺点包括服务的提供、伦理考虑、遗传咨询的复杂性,以及通过全面教育和普及提高公众和专业意识的必要性。实用的指导包括考虑选择合适的候选人、咨询策略,以及如何将 PPGT 整合到现有的医疗保健框架中。通过解决这些因素,PPGT 可以为个人和夫妇提供增加的生殖知情选择,减轻家庭的疾病负担。