Introduction: Subchromosomal abnormalities in preimplantation embryonic aneuploidy screening

Fertil Steril. 2017 Jan;107(1):4-5. doi: 10.1016/j.fertnstert.2016.11.017.


The application of next generation sequencing platforms for embryonic aneuploidy screening provides enhanced resolution that allows routine evaluation of subchromosomal copy number abnormalities and mosaicism. Approximately 20% of embryos that would be designated as euploid using the conventional 24-chromosome aneuploidy screening will have evidence of a subchromosomal abnormality or mosaicism. This new information brings many challenges. Understanding the impact of these abnormalities on implantation and delivery rates is key to optimizing clinical counseling and management.

Keywords: Chromosomal duplications; chromosomal deletions; embryonic mosaicism; preimplantation genetic screening; subchromosomal defects.

Publication types

  • Introductory Journal Article

MeSH terms

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