PREIMPLANTATION GENETIC TESTING: Clinical experience of preimplantation genetic testing

Reproduction. 2020 Nov;160(5):A45-A58. doi: 10.1530/REP-20-0082.

Abstract

Thirty years of rapid technological advances in the field of genetic testing and assisted reproduction have reshaped the procedure of preimplantation genetic testing (PGT). The development of whole genome amplification and genome-wide testing tools together with the implementation of optimal hormonal stimulation protocols and more efficient cryopreservation methods have led to more accurate diagnoses and improved clinical outcomes. In addition, the shift towards embryo biopsy at day 5/6 has changed the timeline of a typical PGT clinical procedure. In this paper, we present an up-to-date overview of the different steps in PGT from patient referral to baby follow-up.

Publication types

  • Review

MeSH terms

  • Chromosome Aberrations*
  • Female
  • Fetal Diseases / diagnosis*
  • Fetal Diseases / genetics
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / embryology
  • Genetic Diseases, Inborn / genetics
  • Genetic Testing / methods*
  • Humans
  • Pregnancy
  • Preimplantation Diagnosis / methods*