Preimplantation Genetic Testing for Aneuploidy - a Castle Built on Sand

Trends Mol Med. 2021 Aug;27(8):731-742. doi: 10.1016/j.molmed.2020.11.009. Epub 2021 Jan 11.

Abstract

Preimplantation genetic testing for aneuploidy (PGT-A) has become a routine add-on for in vitro fertilization (IVF) to determine whether human embryos are to be clinically utilized or disposed of. Studies claiming IVF outcome improvements following PGT-A, however, used highly selected patient populations or inappropriate statistical methodologies. PGT-A was never clinically validated in its ability to define a human embryo as chromosomal normal, mosaic, or aneuploid, nor certified by a regulatory body, or an authoritative professional organization. Because of a high false-positive rate, PGT-A, actually reduces live IVF birth chances for many patients. Furthermore, in recent studies the PGT-A hypothesis was demonstrated to be mistaken for biological, mathematical and technical reasons. PGT-A, therefore, should clinically only be offered within experimental study frameworks.

Keywords: aneuploidy; chromosomal testing of embryos; in vitro fertilization; mosaicism; preimplantation genetic diagnosis for aneuploidy.

Publication types

  • Review

MeSH terms

  • Aneuploidy*
  • Cytogenetic Analysis
  • Female
  • Fertilization in Vitro
  • Genetic Testing / methods*
  • Genetic Testing / standards*
  • Humans
  • Mosaicism
  • Pregnancy
  • Pregnancy Outcome
  • Preimplantation Diagnosis / methods*
  • Preimplantation Diagnosis / standards*
  • Prognosis
  • Reproductive Physiological Phenomena