The impact of contemporary preimplantation genetic screening and diagnosis on the detection of aneuploidy and inherited genetic diseases

Birth Defects Res. 2018 May 1;110(8):644-647. doi: 10.1002/bdr2.1220.


Pre-implantation genetic screening and diagnosis represent important tools for embryo selection in patients undergoing in vitro fertilization. Methods have evolved in recent years and it can be challenging to remain up to date on the current technology. This review article seeks to provide an overview of pre-implantation genetic screening and diagnosis methods, the associated clinical outcomes, and the limitations of this technology.

Keywords: aneuploidy; in vitro fertilization; pre-implantation genetic diagnosis; pre-implantation genetic screening.

Publication types

  • Review

MeSH terms

  • Aneuploidy*
  • Fertilization in Vitro
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / genetics
  • Genetic Testing*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Preimplantation Diagnosis*