Preimplantation Genetic Screening and Preimplantation Genetic Diagnosis

Obstet Gynecol Clin North Am. 2018 Mar;45(1):113-125. doi: 10.1016/j.ogc.2017.10.009.


Preimplantation genetic testing encompasses preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD). PGS improves success rates of in vitro fertilization by ensuring the transfer of euploid embryos that have a higher chance of implantation and resulting in a live birth. PGD enables the identification of embryos with specific disease-causing mutations and transfer of unaffected embryos. The development of whole genome amplification and genomic tools, including single nucleotide polymorphism microarrays, comparative genomic hybridization microarrays, and next-generation sequencing, has led to faster, more accurate diagnoses that translate to improved pregnancy and live birth rates.

Keywords: Comprehensive chromosome screening (CCS); Next-generation sequencing (NGS); Preimplantation genetic diagnosis (PGD); Preimplantation genetic screening (PGS).

Publication types

  • Review

MeSH terms

  • Biopsy
  • Blastocyst / pathology
  • Blastocyst / physiology
  • Blastomeres / pathology
  • Cytogenetic Analysis
  • Female
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / genetics
  • Genetic Testing / ethics
  • Genetic Testing / methods*
  • Humans
  • Ovum / pathology
  • Pregnancy
  • Pregnancy Rate
  • Preimplantation Diagnosis* / ethics
  • Preimplantation Diagnosis* / methods
  • Reproductive Techniques, Assisted