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<p>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.</p>

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Prenatal diagnosis following preimplantation genetic testing (PGT): recommendations of the Italian Society of Human Genetics (SIGU)

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年1月28日

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  • Francesca Romana Grati,
  • Antonio Capalbo,
  • Ilaria Gabbiato,
  • Paola Battaglia,
  • Maria Carla Pittalis,
  • Domenico Bizzoco,
  • Laura Cardarelli,
  • Valentina Gatta,
  • Fortunato Lonardo,
  • Antonio Novelli,
  • Laura Bernardini,
  • Daniela Zuccarello

摘要

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.