由于遗传性肿瘤综合征对患者的身体和心理健康产生的不利影响，以及传给下一代的风险增加，遗传性肿瘤综合征引起了相当的关注。这促使人们对探索胚胎植入前遗传学检测（PGT）作为一种治疗选项以减轻和消除这些影响的兴趣日益增长。几项研究表明，新突变成为许多遗传性肿瘤综合征的主要原因，这给PGT带来了一定的困难。在缺乏足够的遗传连锁信息（父母和后代）的情况下，单倍型构建似乎是不可实现的。在这项研究中，研究人员利用单个精子或受影响的胚胎作为样本来进行单核苷酸多态性连锁分析，用于具有新突变的病例。对于复杂的突变，精子与胚胎检测相结合的策略将提高准确性，同时避免使用单一检测材料的局限性和潜在失败。该研究招募了11对具有男性新突变携带者的夫妇，包括3种肿瘤类型和4种基因。迄今为止，已经确诊怀孕的夫妇中有4对，已经出生了3个健康婴儿。羊水穿刺或脐带血验证的结果与PGT-M的结果一致。该研究旨在介绍PGT-M策略在遗传性肿瘤综合征中的应用。© 2023. 作者，独家授权给日本人类遗传学学会。

Hereditary tumor syndromes have garnered substantial attention due to their adverse effects on both the physical and psychological health of patients, as well as the elevated risk of transmission to subsequent generations. This has prompted a growing interest in exploring preimplantation genetic testing (PGT) as a treatment option to mitigate and eliminate these impacts. Several studies have demonstrated that de novo variants have become a great cause of many hereditary tumor syndromes, which introduce certain difficulties to PGT. In the absence of adequate genetic linkage information (parents and offspring), haplotype construction seems unrealizable. In the study, researchers used single sperm or affected embryos as proband to perform single-nucleotide polymorphism linkage analysis for cases with de novo variants. For complicated variants, the strategy that sperm combined with embryo detection will increase accuracy while avoiding the limitations and potential failures of using a single detection material. The study recruited 11 couples with male de novo carriers, including 3 tumor types and 4 genes. To date, 4 couples have been clinically confirmed as pregnant and three healthy babies have been born. The results of amniocentesis or umbilical cord blood verification were consistent with the results of PGT-M. The study aims to introduce the application of the PGT-M strategy in hereditary tumor syndromes.© 2023. The Author(s), under exclusive licence to The Japan Society of Human Genetics.