Embryonic aneuploidy: overcoming molecular genetics challenges improves outcomes and changes practice patterns

Trends Mol Med. 2014 Sep;20(9):499-508. doi: 10.1016/j.molmed.2014.06.006. Epub 2014 Aug 8.


Since its inception, in vitro fertilization (IVF) has pursued molecular technology to improve patient outcomes, leading to enhanced methods of embryo selection. Comprehensive chromosomal screening (CCS) is a powerful tool that decreases maternal and neonatal morbidity due to multiple gestations by allowing the transfer of fewer embryos while maintaining success rates. To optimize this genetic test, physiological principles limiting the timing and type of cells to be removed had to be realized. Molecular barriers involved in genome amplification and ensuring the accuracy and validity of the CCS platform required a multistep approach to ensure that this technology was not used prematurely. Only after ensuring that the potential for harm was minimized and benefit maximized could clinicians use this technology to improve patient care.

Keywords: aneuploidy; comprehensive chromosomal screening; infertility; mosaicism.

Publication types

  • Review

MeSH terms

  • Aneuploidy*
  • Embryo, Mammalian / cytology
  • Embryo, Mammalian / physiology*
  • Female
  • Fertilization in Vitro
  • Genetic Testing / methods*
  • Humans
  • Mosaicism
  • Pregnancy
  • Pregnancy Rate
  • Preimplantation Diagnosis / methods*