Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Via Giustiniani 3, 35128 Padova, Italy.
Department of Lab Medicine Unit of Clinical Genetics and Epidemiology, University Hospital of Padova, Via Giustiniani 3, 35128 Padova, Italy.
Genes (Basel). 2023 Nov 12;14(11):2069. doi: 10.3390/genes14112069.
Cancer Predisposition Syndromes (CPSs), also known as Hereditary Cancer Syndromes (HCSs), represent a group of genetic disorders associated with an increased lifetime risk of developing cancer. In this article, we provide an overview of the reproductive options for patients diagnosed with CPS, focusing on the emerging role of Preimplantation Genetic Testing for Monogenic disorders (PGT-M). Specifically, we conducted a literature review about the awareness and acceptability of its application to CPSs. Based on the available data, the awareness of the applicability of PGT-M for CPSs appears to be limited among both patients and physicians, and a heterogeneous set of factors seems to influence the acceptability of the procedure. Our findings highlight the need for increasing education about the use of PGT-M for CPSs. In this context, guidelines developed by professional or institutional bodies would represent a useful reference tool to assist healthcare professionals in providing proper preconception counseling.
癌症易感综合征(CPSs),也称为遗传性癌症综合征(HCSs),代表了一组与终生癌症发病风险增加相关的遗传疾病。本文概述了诊断为 CPS 的患者的生殖选择,重点介绍了单基因疾病植入前遗传学检测(PGT-M)的新作用。具体来说,我们对其应用于 CPS 的意识和可接受性进行了文献回顾。根据现有数据,患者和医生对 PGT-M 应用于 CPS 的意识似乎有限,并且似乎有一系列异质因素影响该程序的可接受性。我们的研究结果强调了增加对 CPS 中使用 PGT-M 的认识的必要性。在这种情况下,由专业或机构制定的指南将成为有用的参考工具,以帮助医疗保健专业人员提供适当的孕前咨询。