Advances in Preimplantation Genetic Testing for Monogenic Disease and Aneuploidy

Annu Rev Genomics Hum Genet. 2017 Aug 31;18:189-200. doi: 10.1146/annurev-genom-091416-035508. Epub 2017 May 12.


Genetic testing of preimplantation embryos promises to prevent monogenic disease in children born to at-risk couples, the transfer of unbalanced embryos to patients carrying a balanced translocation, and the use of aneuploid embryos created during in vitro fertilization. Technologies have evolved from fluorescence in situ hybridization to next-generation-sequencing-based aneuploidy screening and allow for simultaneous testing of multiple genetic abnormalities in a single biopsy. The field has also shifted away from polar body or blastomere biopsy and toward trophectoderm biopsy as the new standard. This review describes the multitude of available platforms and methodologies used in contemporary preimplantation genetic testing.

Keywords: blastocyst; comprehensive chromosome screening; in vitro fertilization; single-gene disorders.

Publication types

  • Review

MeSH terms

  • Aneuploidy*
  • Blastomeres
  • Chromosomes, Human
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / genetics
  • Genetic Testing / methods*
  • Humans
  • Mutation*
  • Preimplantation Diagnosis / methods*
  • Sequence Analysis, DNA