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.

遗传性肿瘤综合征因其对患者身心健康的不利影响以及遗传给后代的风险较高而受到广泛关注。这促使人们越来越有兴趣探索植入前基因检测（PGT）作为减轻和消除这些影响的治疗选择。多项研究表明，新生变异已成为许多遗传性肿瘤综合征的重要原因，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，单倍型构建似乎无法实现。在这项研究中，研究人员使用单个精子或受影响的胚胎作为先证者，对具有新发变异的病例进行单核苷酸多态性连锁分析。对于复杂的变异，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的失败。该研究招募了11对男性新发携带者夫妇，包括3种肿瘤类型和4种基因。截至目前，已有4对夫妇经临床确认怀孕，并产下3名健康婴儿。羊膜穿刺或脐带血验证结果与PGT-M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。