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.

Abstract

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