Literature DB >> 36055209

On the reproductive capabilities of aneuploid human preimplantation embryos.

Antonio Capalbo1, Maurizio Poli2, Chaim Jalas3, Eric J Forman4, Nathan R Treff5.   

Abstract

In IVF cycles, the application of aneuploidy testing at the blastocyst stage is quickly growing, and the latest reports estimate almost half of cycles in the US undergo preimplantation genetic testing for aneuploidies (PGT-A). Following PGT-A cycles, understanding the predictive value of an aneuploidy result is paramount for making informed decisions about the embryo's fate and utilization. Compelling evidence from non-selection trials strongly supports that embryos diagnosed with a uniform whole-chromosome aneuploidy very rarely result in the live birth of a healthy baby, while their transfer exposes women to significant risks of miscarriage and chromosomally abnormal pregnancy. On the other hand, embryos displaying low range mosaicism for whole chromosomes have shown reproductive capabilities somewhat equivalent to uniformly euploid embryos, and they have comparable clinical outcomes and gestational risks. Therefore, given their clearly distinct biological origin and clinical consequences, careful differentiation between uniform and mosaic aneuploidy is critical in both the clinical setting when counseling individuals and in the research setting when presenting aneuploidy studies in human embryology. Here, we focus on the evidence gathered so far on PGT-A diagnostic predictive values and reproductive outcomes observed across the broad spectrum of whole-chromosome aneuploidies detected at the blastocyst stage to obtain evidence-based conclusions on the clinical management of aneuploid embryos in the quickly growing PGT-A clinical setting.
Copyright © 2022 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Entities:  

Keywords:  IVF; aneuploidy; meiosis; mosaicism; preimplantation genetic testing

Mesh:

Year:  2022        PMID: 36055209      PMCID: PMC9502046          DOI: 10.1016/j.ajhg.2022.07.009

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.043


  46 in total

1.  Genomic imbalance in products of conception: single-nucleotide polymorphism chromosomal microarray analysis.

Authors:  Brynn Levy; Styrmir Sigurjonsson; Barbara Pettersen; Melissa K Maisenbacher; Megan P Hall; Zachary Demko; Ruth B Lathi; Rosina Tao; Vimla Aggarwal; Matthew Rabinowitz
Journal:  Obstet Gynecol       Date:  2014-08       Impact factor: 7.661

2.  In vitro fertilization with single euploid blastocyst transfer: a randomized controlled trial.

Authors:  Eric J Forman; Kathleen H Hong; Kathleen M Ferry; Xin Tao; Deanne Taylor; Brynn Levy; Nathan R Treff; Richard T Scott
Journal:  Fertil Steril       Date:  2013-03-30       Impact factor: 7.329

3.  Transferring embryos with genetic anomalies detected in preimplantation testing: an Ethics Committee Opinion.

Authors: 
Journal:  Fertil Steril       Date:  2017-05       Impact factor: 7.329

4.  Blastocysts can be rebiopsied for preimplantation genetic diagnosis and screening.

Authors:  Shuoping Zhang; Ke Tan; Fei Gong; Yifan Gu; Yueqiu Tan; Changfu Lu; Keli Luo; Guangxiu Lu; Ge Lin
Journal:  Fertil Steril       Date:  2014-10-22       Impact factor: 7.329

5.  Association between the number of eggs and live birth in IVF treatment: an analysis of 400 135 treatment cycles.

Authors:  Sesh Kamal Sunkara; Vivian Rittenberg; Nick Raine-Fenning; Siladitya Bhattacharya; Javier Zamora; Arri Coomarasamy
Journal:  Hum Reprod       Date:  2011-05-10       Impact factor: 6.918

Review 6.  Systematic search for uniparental disomy in early fetal losses: the results and a review of the literature.

Authors:  L G Shaffer; C McCaskill; K Adkins; T J Hassold
Journal:  Am J Med Genet       Date:  1998-10-12

7.  Assessment of aneuploidy concordance between clinical trophectoderm biopsy and blastocyst.

Authors:  Andrea R Victor; Darren K Griffin; Alan J Brake; Jack C Tyndall; Alex E Murphy; Laura T Lepkowsky; Archana Lal; Christo G Zouves; Frank L Barnes; Rajiv C McCoy; Manuel Viotti
Journal:  Hum Reprod       Date:  2019-01-01       Impact factor: 6.918

8.  Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial.

Authors:  Antonio Capalbo; Maurizio Poli; Laura Rienzi; Laura Girardi; Cristina Patassini; Marco Fabiani; Danilo Cimadomo; Francesca Benini; Alessio Farcomeni; Juliana Cuzzi; Carmen Rubio; Elena Albani; Laura Sacchi; Alberto Vaiarelli; Matteo Figliuzzi; Necati Findikli; Onder Coban; Fazilet K Boynukalin; Ivan Vogel; Eva Hoffmann; Claudia Livi; Paolo E Levi-Setti; Filippo M Ubaldi; Carlos Simón
Journal:  Am J Hum Genet       Date:  2021-11-18       Impact factor: 11.025

Review 9.  Copy number analysis of meiotic and postzygotic mitotic aneuploidies in trophectoderm cells biopsied at the blastocyst stage and arrested embryos.

Authors:  Alan H Handyside; Abeo McCollin; Michael C Summers; Christian S Ottolini
Journal:  Prenat Diagn       Date:  2020-09-09       Impact factor: 3.050

10.  Mouse model of chromosome mosaicism reveals lineage-specific depletion of aneuploid cells and normal developmental potential.

Authors:  Helen Bolton; Sarah J L Graham; Niels Van der Aa; Parveen Kumar; Koen Theunis; Elia Fernandez Gallardo; Thierry Voet; Magdalena Zernicka-Goetz
Journal:  Nat Commun       Date:  2016-03-29       Impact factor: 14.919

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