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

J Assist Reprod Genet. 2025 Mar;42(3):1015-1024. doi: 10.1007/s10815-024-03358-5. Epub 2025 Jan 28.

Abstract

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.

Keywords: Embryo; Mosaicism; PGT-A; PGT-M; PGT-SR; Prenatal diagnosis.

Publication types

  • Practice Guideline

MeSH terms

  • Embryo Transfer
  • Female
  • Fertilization in Vitro
  • Genetic Testing* / methods
  • Humans
  • Italy
  • Pregnancy
  • Preimplantation Diagnosis* / methods
  • Preimplantation Diagnosis* / standards
  • Prenatal Diagnosis* / methods
  • Societies, Medical