Translocations, inversions and other chromosome rearrangements

Fertil Steril. 2017 Jan;107(1):19-26. doi: 10.1016/j.fertnstert.2016.10.013. Epub 2016 Oct 25.


Chromosomal rearrangements have long been known to significantly impact fertility and miscarriage risk. Advancements in molecular diagnostics are challenging contemporary clinicians and patients in accurately characterizing the reproductive risk of a given abnormality. Initial attempts at preimplantation genetic diagnosis were limited by the inability to simultaneously evaluate aneuploidy and missed up to 70% of aneuploidy in chromosomes unrelated to the rearrangement. Contemporary platforms are more accurate and less susceptible to technical errors. These techniques also offer the ability to improve outcomes through diagnosis of uniparental disomy and may soon be able to consistently distinguish between normal and balanced translocation karyotypes. Although an accurate projection of the anticipated number of unbalanced embryos is not possible at present, confirmation of normal/balanced status results in high pregnancy rates (PRs) and diagnostic accuracy.

Keywords: Reciprocal translocation; Robertsonian translocation; inversions; marker chromosomes; preimplantation genetic diagnosis.

Publication types

  • Review

MeSH terms

  • Blastocyst / pathology
  • Chromosome Disorders / diagnosis*
  • Chromosome Disorders / etiology
  • Chromosome Disorders / genetics
  • Chromosome Disorders / pathology
  • Chromosome Inversion*
  • Chromosomes, Human*
  • Embryo Transfer
  • Female
  • Gene Rearrangement*
  • Genetic Counseling
  • Genetic Predisposition to Disease
  • Genetic Testing*
  • Humans
  • Phenotype
  • Predictive Value of Tests
  • Pregnancy
  • Pregnancy Outcome
  • Preimplantation Diagnosis / methods*
  • Reproductive Techniques, Assisted / adverse effects*
  • Risk Assessment
  • Risk Factors
  • Translocation, Genetic*
  • Treatment Outcome