Grati Francesca Romana, Capalbo Antonio, Gabbiato Ilaria, Battaglia Paola, Pittalis Maria Carla, Bizzoco Domenico, Cardarelli Laura, Gatta Valentina, Lonardo Fortunato, Novelli Antonio, Bernardini Laura, Zuccarello Daniela
Reproductive Precision Medicine Unit, Menarini Silicon Biosystems, Castel Maggiore, Bologna, Italy.
Unità Di Genetica Medica, CAST, Università "G. d'Annunzio" Chieti-Pescara, Chieti, Italy.
J Assist Reprod Genet. 2025 Mar;42(3):1015-1024. doi: 10.1007/s10815-024-03358-5. Epub 2025 Jan 28.
This document aims to provide good practice recommendations in order to support maternal-foetal medicine specialists, clinical geneticists and clinical laboratory geneticists in the management of pregnancies obtained after the transfer of an embryo tested with preimplantation genetic testing (PGT). It was drafted by geneticists expert in preimplantation genetics and prenatal genetic diagnosis belonging to the "Working Group in Cytogenomics, Prenatal and Reproductive Genetics" of the "Italian Society of Human Genetics" (SIGU). In particular, the paper addresses the diagnostic algorithm to be applied in prenatal follow-up depending on the type of PGT performed, the results obtained and the related diagnostic value based on the most recent literature data and Italian and international recommendations.
本文档旨在提供良好实践建议,以支持母胎医学专家、临床遗传学家和临床实验室遗传学家对经植入前基因检测(PGT)的胚胎移植后妊娠进行管理。它由属于“意大利人类遗传学协会”(SIGU)“细胞基因组学、产前和生殖遗传学工作组”的植入前遗传学和产前基因诊断专家遗传学家起草。特别是,本文根据所进行的PGT类型、获得的结果以及基于最新文献数据和意大利及国际建议的相关诊断价值,阐述了产前随访中应应用的诊断算法。