Non-invasive prenatal testing in the context of IVF and PGT-A

Best Pract Res Clin Obstet Gynaecol. 2021 Jan;70:51-62. doi: 10.1016/j.bpobgyn.2020.07.004. Epub 2020 Jul 15.


The high incidence of chromosome aneuploidy in human gametes and embryos is a major cause of in vitro fertilization (IVF) failure and miscarriage. In order to improve live birth rates with single embryo transfer, the use of preimplantation genetic testing for aneuploidy (PGT-A) has significantly increased. PGT encompasses methods that allow embryos to be tested for inherited conditions or screened for chromosomal abnormalities. However, PGT-A is a screening method and results can never be used to definitively predict the chromosomal status of the embryo and fetus. The objective of this manuscript is to review prenatal screening and diagnostic methods available in pregnancies conceived by IVF-PGT-A.

Keywords: Aneuploidy; CVS; Cell-free DNA; IVF; NIPT; PGT-A.

Publication types

  • Review

MeSH terms

  • Aneuploidy
  • Embryo Transfer
  • Female
  • Fertilization in Vitro
  • Genetic Testing
  • Humans
  • Pregnancy
  • Preimplantation Diagnosis*