Embryo mosaicism and its impact on IVF decision-making when using preimplantation genetic screening: Current challenges and controversies

Gon Shoham, Yuval Yaron, Ariel Weissman

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

Abstract

Preimplantation genetic screening (PGS) has been one of the most promising advancements in reproductive medicine. Current PGS practice employs comprehensive chromosomal screening. This progressive technique, particularly next-generation sequencing (NGS), has revealed the phenomenon of embryonic mosaic aneuploidy, the presence of cell lineages with different chromosomal constitutions. Two Web-based PGS surveys conducted about reproductive medicine practitioners assessed, among other topics, attitudes and opinions regarding mosaicism in PGS. Published survey results highlighted a number of distinct differences between practitioners in facilities that performed PGS and those that did not. There were also gaps in consensus on the objectives of PGS, how often mosaicism was encountered and reported, whether NGS was required to detect mosaicism, and what the maximum aneuploid cell percentage should be employed for performing embryo transfers. These discrepancies ultimately lead to differences in opinion regarding whether PGS should be performed if mosaicism decision-making guidelines are not yet available.

Original languageEnglish
Title of host publicationHuman Embryos and Preimplantation Genetic Technologies
Subtitle of host publicationEthical, Social, and Public Policy Aspects
PublisherElsevier
Pages35-42
Number of pages8
ISBN (Electronic)9780128164686
DOIs
StatePublished - 1 Jan 2019

Keywords

  • Assisted reproductive technology
  • Comprehensive chromosomal screening
  • Mosaicism
  • Next-generation sequencing
  • Preimplantation genetic screening

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