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Previously reported and here added cases demonstrate euploid pregnancies followed by PGT-A as “mosaic” as well as “aneuploid” designated embryos

BACKGROUND: After the longest time opposing all transfers of embryos by preimplantation genetic testing for aneuploidy (PGT-A) diagnosed as “chromosomal-abnormal,” the field has over recent years slowly been moving toward selective transfers of by PGT-A as “mosaic” diagnosed embryos, but is still re...

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Autores principales: Gleicher, Norbert, Patrizio, Pasquale, Mochizuki, Lyka, Barad, David H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9993652/
https://www.ncbi.nlm.nih.gov/pubmed/36890559
http://dx.doi.org/10.1186/s12958-023-01077-7
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author Gleicher, Norbert
Patrizio, Pasquale
Mochizuki, Lyka
Barad, David H.
author_facet Gleicher, Norbert
Patrizio, Pasquale
Mochizuki, Lyka
Barad, David H.
author_sort Gleicher, Norbert
collection PubMed
description BACKGROUND: After the longest time opposing all transfers of embryos by preimplantation genetic testing for aneuploidy (PGT-A) diagnosed as “chromosomal-abnormal,” the field has over recent years slowly been moving toward selective transfers of by PGT-A as “mosaic” diagnosed embryos, but is still rejecting transfers of embryos by PGT-A defined as “aneuploid.” METHODS: Upon review of the literature, we report published cases of euploid pregnancies following transfers of PGT-A as “aneuploid” diagnosed embryos and add several additional, ongoing cases at our center. RESULTS: Among the published cases from our center, we identified seven euploid pregnancies from “aneuploid” embryos, four of which preceded the PGT-A industry’s 2016 switch from binary “euploid” – “aneuploid” reporting to “euploid,” “mosaic,” and “aneuploid” reporting. That those four cases post 2016 PGT-A definition involving “mosaic” embryos, therefore, cannot be ruled out. Since then, we recently established three additional ongoing pregnancies from transfers of “aneuploid” embryos which still await confirmation of euploidy after delivery. A recent fourth pregnancy from the transfer of a trisomy 9 embryo miscarried before a fetal heart. Outside our own center’s experience, the literature revealed only one additional such transfer, involving PGT-A as a “chaotic-aneuploid” diagnosed embryo with six abnormalities, leading to normal euploid delivery. In reviewing the literature, we furthermore demonstrate why current PGT-A reporting that differentiates between “mosaic” and “aneuploid” embryos based on relative percentages of euploid and aneuploid DNA in a single trophectoderm biopsy of on average 5-6 cells, is biologically non-sensical. CONCLUSION: Basic biological evidence and a clinically still very limited experience with transfers of PGT-A as “aneuploid” labeled embryos demonstrate beyond reasonable doubt that at least some “aneuploid” embryos can lead to healthy euploid births. Therefore, this observation establishes beyond reasonable doubt that the rejection of all “aneuploid” embryos from transfer reduces pregnancy and live birth chances for IVF patients. Whether (and to what possible degree) pregnancy and live birth chances differ between “mosaic” and “aneuploid” embryos, remains to be determined. The answer will likely depend on the aneuploidy(ies) of an embryo and to what degree percentages of “mosaicism” in a single, on average 5/6-cell trophectoderm biopsy can reflect the ploidy-status of a complete embryo.
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spelling pubmed-99936522023-03-09 Previously reported and here added cases demonstrate euploid pregnancies followed by PGT-A as “mosaic” as well as “aneuploid” designated embryos Gleicher, Norbert Patrizio, Pasquale Mochizuki, Lyka Barad, David H. Reprod Biol Endocrinol Research BACKGROUND: After the longest time opposing all transfers of embryos by preimplantation genetic testing for aneuploidy (PGT-A) diagnosed as “chromosomal-abnormal,” the field has over recent years slowly been moving toward selective transfers of by PGT-A as “mosaic” diagnosed embryos, but is still rejecting transfers of embryos by PGT-A defined as “aneuploid.” METHODS: Upon review of the literature, we report published cases of euploid pregnancies following transfers of PGT-A as “aneuploid” diagnosed embryos and add several additional, ongoing cases at our center. RESULTS: Among the published cases from our center, we identified seven euploid pregnancies from “aneuploid” embryos, four of which preceded the PGT-A industry’s 2016 switch from binary “euploid” – “aneuploid” reporting to “euploid,” “mosaic,” and “aneuploid” reporting. That those four cases post 2016 PGT-A definition involving “mosaic” embryos, therefore, cannot be ruled out. Since then, we recently established three additional ongoing pregnancies from transfers of “aneuploid” embryos which still await confirmation of euploidy after delivery. A recent fourth pregnancy from the transfer of a trisomy 9 embryo miscarried before a fetal heart. Outside our own center’s experience, the literature revealed only one additional such transfer, involving PGT-A as a “chaotic-aneuploid” diagnosed embryo with six abnormalities, leading to normal euploid delivery. In reviewing the literature, we furthermore demonstrate why current PGT-A reporting that differentiates between “mosaic” and “aneuploid” embryos based on relative percentages of euploid and aneuploid DNA in a single trophectoderm biopsy of on average 5-6 cells, is biologically non-sensical. CONCLUSION: Basic biological evidence and a clinically still very limited experience with transfers of PGT-A as “aneuploid” labeled embryos demonstrate beyond reasonable doubt that at least some “aneuploid” embryos can lead to healthy euploid births. Therefore, this observation establishes beyond reasonable doubt that the rejection of all “aneuploid” embryos from transfer reduces pregnancy and live birth chances for IVF patients. Whether (and to what possible degree) pregnancy and live birth chances differ between “mosaic” and “aneuploid” embryos, remains to be determined. The answer will likely depend on the aneuploidy(ies) of an embryo and to what degree percentages of “mosaicism” in a single, on average 5/6-cell trophectoderm biopsy can reflect the ploidy-status of a complete embryo. BioMed Central 2023-03-08 /pmc/articles/PMC9993652/ /pubmed/36890559 http://dx.doi.org/10.1186/s12958-023-01077-7 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Gleicher, Norbert
Patrizio, Pasquale
Mochizuki, Lyka
Barad, David H.
Previously reported and here added cases demonstrate euploid pregnancies followed by PGT-A as “mosaic” as well as “aneuploid” designated embryos
title Previously reported and here added cases demonstrate euploid pregnancies followed by PGT-A as “mosaic” as well as “aneuploid” designated embryos
title_full Previously reported and here added cases demonstrate euploid pregnancies followed by PGT-A as “mosaic” as well as “aneuploid” designated embryos
title_fullStr Previously reported and here added cases demonstrate euploid pregnancies followed by PGT-A as “mosaic” as well as “aneuploid” designated embryos
title_full_unstemmed Previously reported and here added cases demonstrate euploid pregnancies followed by PGT-A as “mosaic” as well as “aneuploid” designated embryos
title_short Previously reported and here added cases demonstrate euploid pregnancies followed by PGT-A as “mosaic” as well as “aneuploid” designated embryos
title_sort previously reported and here added cases demonstrate euploid pregnancies followed by pgt-a as “mosaic” as well as “aneuploid” designated embryos
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9993652/
https://www.ncbi.nlm.nih.gov/pubmed/36890559
http://dx.doi.org/10.1186/s12958-023-01077-7
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