Assisted Reproductive Technology and Embryonic Mosaicism

Research output: Contribution to conferencePaperpeer-review


The ability to detect embryonic mosaicism (two or more chromosomally distinct cell populations in an embryo) in trophectoderm biopsies has been increased by use of high-resolution next generation sequencing. Sophisticated technological advances in genetics have led to a paradigm shift in the classification of IVF embryos, to include “mosaic” as a new typology. Yet much uncertainty exists, such as the frequency of mosaicism and how many cells must be affected to be “mosaic”. Studies show that mosaicism may be induced or exacerbated by the assisted reproduction process. The consequences of mosaicism for embryo viability are unknown. There is a lack of uniformity across different genetic laboratories in how mosaics are scored. While distinct types of embryonic mosaicism have been suggested, the question as to which are appropriate to transfer is uncertain. The lack of research means the risk that mosaic embryos may be inappropriately categorized as aneuploid and discarded, or classified as entirely normal, though carrying an elevated risk of aneuploidy pregnancy, currently exists. The question whether NGS should be done on all embryos (with PGT-A) is a cause for debate although the cost implications at present are prohibitive. This paper discusses ethico-legal aspects of embryonic mosaicism in the context of ART based on current evidence in reproductive medicine.
Original languageEnglish
Publication statusAccepted/In press - 25 Oct 2019
EventTransformative Technologies: Legal and Ethical Challenges of XXI Century - Banja Luka University, Banja Luka, Bosnia and Herzegovina
Duration: 7 Feb 20208 Feb 2020


ConferenceTransformative Technologies: Legal and Ethical Challenges of XXI Century
Country/TerritoryBosnia and Herzegovina
CityBanja Luka
Internet address


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