Article
Genetics & Heredity
Yongle Yang, Wei Tan, Changsheng Chen, Lei Jin, Bo Huang
Summary: Polar bodies have been widely used for preimplantation genetic diagnosis, but their relationship with embryonic ploidy remains unclear. This study found that the state of polar bodies is not directly related to the ploidy of blastocysts, suggesting that it should not be used as a sole predictor for embryo selection.
FRONTIERS IN GENETICS
(2022)
Article
Obstetrics & Gynecology
Lauren Walters-Sen, Dana Neitzel, Sara L. Bristow, Asia Mitchell, Charlene A. Alouf, Swaroop Aradhya, Nicole Faulkner
Summary: This study validated FAST-SeqS as a reliable PGT-A method and demonstrated its ability to detect additional information related to ploidy using SNP analysis. The results showed high sensitivity and specificity of FAST-SeqS in detecting whole-chromosome aneuploidies and identified various chromosomal abnormalities in segmental aneuploidies.
REPRODUCTIVE BIOMEDICINE ONLINE
(2022)
Article
Obstetrics & Gynecology
Ermanno Greco, Pavel Yakovlev, Nikolay Kornilov, Svetlana Vyatkina, Daria Bogdanova, Marina Ermakova, Yulia Tarasova, Andrei Tikhonov, Anna Pendina, Anil Biricik, Maria Teresa Sessa, Ilaria Listorti, Carlo Ronsini, Pier Francesco Greco, Andrea Victor, Frank Barnes, Christo Zouves, Francesca Spinella, Manuel Viotti
Summary: The health risks of transferring mosaic embryos identified by preimplantation genetic testing for aneuploidies (PGT-A) are currently unknown. Two cases of persisting mosaicism from the embryonic stage to established pregnancy were reported, raising concerns about the resolution of embryonic mosaicism and potential clinical effects.
HUMAN REPRODUCTION
(2023)
Article
Obstetrics & Gynecology
Alan Penzias, Amer Soc Reproductive Med, Paula Amato, Jacob Anderson, Kristin Bendikson, Clarisa Gracia, Tommaso Falcone, Rebecca Flyckt, Karl Hansen, Micah Hill, Sangita Jindal, Suleena Kalra, Tarun Jain, Bruce Pier, Michael Thomas, Richard Reindollar, Jared Robins, Chevis N. Shannon, Anne Steiner, Cigdem Tanrikut, Belinda Yauger, Andria Besser, Lauri Black, Amy Jordan, Emily Mounts, Genet Counseling Profesional Grp
Summary: This revised document provides evidence-based considerations for the clinical management of embryos with mosaic results on preimplantation genetic testing for aneuploidy. It replaces the previous document published in 2020.
FERTILITY AND STERILITY
(2023)
Article
Obstetrics & Gynecology
Molly M. Quinn, Philip Marsh, Salustiano Ribeiro, Rhodel K. Simbulan, Cristina Hickman, Jorgen Berntsen, Mitchell P. Rosen
Summary: Embryo quality, morphokinetic parameters, and aneuploidy rates were found to be similar in sibling embryos cultured in distinct media systems from the time of gamete isolation.
HUMAN REPRODUCTION
(2022)
Article
Multidisciplinary Sciences
Ekaterina N. Tolmacheva, Stanislav A. Vasilyev, Tatiana Nikitina, Ekaterina S. Lytkina, Elena A. Sazhenova, Daria Zhigalina, Oksana Yu Vasilyeva, Anton Markov, Victoria V. Demeneva, Liubov A. Tashireva, Anna A. Kashevarova, Igor N. Lebedev
Summary: The presence of an extra chromosome in the embryo can significantly affect pregnancy outcome. This study found changes in DNA methylation in miscarriages with trisomy 16, specifically hypermethylation of certain genes. These hypermethylated genes may be associated with the development of trisomy 16 miscarriages.
SCIENTIFIC REPORTS
(2022)
Article
Biochemistry & Molecular Biology
Ana Domingo-Muelas, Robin M. Skory, Adam A. Moverley, Goli Ardestani, Oz Pomp, Carmen Rubio, Piotr Tetlak, Blake Hernandez, Eric A. Rhon-Calderon, Luis Navarro-Sanchez, Carmen M. Garcia-Pascual, Stephanie Bissiere, Marisa S. Bartolomei, Denny Sakkas, Carlos Simon, Nicolas Plachta
Summary: Combining fluorescent dyes with live imaging, this study reveals the dynamics of early development in human embryos, including chromosome segregation, compaction, polarization, blastocyst formation, and hatching. The study also shows that blastocyst expansion mechanically affects trophectoderm cells, causing nuclear budding and DNA shedding into the cytoplasm. Moreover, the study suggests that aneuploidies in human embryos may not only result from chromosome segregation errors during mitosis, but also from nuclear DNA shedding.
Article
Endocrinology & Metabolism
Norbert Gleicher, Pasquale Patrizio, Lyka Mochizuki, David H. Barad
Summary: Despite the previous strong opposition, the field has gradually shifted towards selective transfers of embryos diagnosed as mosaics through PGT-A, while rejecting transfers of embryos defined as aneuploid. Published cases and ongoing cases demonstrate that aneuploid embryos can still result in healthy euploid births.
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY
(2023)
Article
Obstetrics & Gynecology
Margot van Riel, Nathalie Brison, Machteld Baetens, Bettina Blaumeiser, Francois Boemer, Laura Bourlard, Saskia Bulk, Anne De Leener, Julie Desir, Koenraad Devriendt, Annelies Dheedene, Armelle Duquenne, Nathalie Fieremans, Annelies Fieuw, Jean-Stephane Gatot, Bernard Grisart, Sandra Janssens, Nairi Khudashvili, Lore Lannoo, Axel Marichal, Colombine Meunier, Leonor Palmeira, Ilse Parijs, Bruno Pichon, Ellen Roets, Eva Sammels, Guillaume Smits, Marion Suenaert, Yves Sznajer, Kris Van den Bogaert, Leen Vancoillie, Lotte Vandeputte, Elise Vantroys, Joris Robert Vermeesch, Katrien Janssens
Summary: The study evaluated the accuracy and diagnostic value of genome-wide NIPT for the detection of fetal aneuploidies in multiple gestations, with a focus on dichorionic-diamniotic twin pregnancies. The results showed high sensitivity and specificity of NIPT in detecting trisomy in dichorionic-diamniotic twin gestations.
OBSTETRICS AND GYNECOLOGY
(2021)
Article
Medicine, Research & Experimental
Bin Wu, Shan Tian, Rui Hu, Haijun Gao, Bo Yan, Hongxia Wang, Yan Zheng, Yingchun Zhang, Yunshan Wang
Summary: With the advancement of genetic diagnosis, more human mosaics and chimeras are being identified, some of which have no detectable effects. This presents challenges in genetic counseling due to the complexities involved.
MEDICAL HYPOTHESES
(2022)
Article
Public, Environmental & Occupational Health
Hadassa Campos Heiser, Natalia Fagundes Cagnin, Mariane Uehara de Souza, Taccyanna Mikulski Ali, Paula Regina Queiroz Estrada, Camila Cristina Wuaquim Dantas de Souza, Bruno Coprerski, Carmen Rubio, Marcia Riboldi
Summary: The researchers analyzed a database of preimplantation genetic testing for aneuploidy (PGT-A) in more than 160 IVF clinics in Brazil. They found that most mosaic aneuploidies occurred in the last three chromosomes, with 78.06% of cases having only one chromosome affected. Low mosaicism in trisomy and monosomy were the most common forms.
FRONTIERS IN REPRODUCTIVE HEALTH
(2023)
Article
Obstetrics & Gynecology
Julia Kim, Xin Tao, Michael Cheng, Ayesha Steward, Vanessa Guo, Yiping Zhan, Richard T. Scott Jr, Chaim Jalas
Summary: This study aims to determine the frequency at which the results of a single trophectoderm biopsy tested by PGTseq reflect the biology of the rest of the embryo.
FERTILITY AND STERILITY
(2022)
Editorial Material
Obstetrics & Gynecology
Eve C. Feinberg
Summary: This month's Views and Reviews delves into various aspects of mosaic embryo diagnosis, discussing challenges in preimplantation genetic testing, outcome data from mosaic embryo transfers, and society recommendations for genetic counseling and prenatal diagnostic testing post-transfer.
FERTILITY AND STERILITY
(2021)
Article
Obstetrics & Gynecology
Angel Martin, Lorena Rodrigo, Diana Beltran, Marcos Meseguer, Carmen Rubio, Amparo Mercader, Maria Jose de los Santos
Summary: This study provided a full morphokinetic characterization of embryos with different degrees of chromosomal mosaicism. It was found that the percentage of high-quality blastocysts decreased from euploid to mosaic and aneuploid embryos. Aneuploid blastocysts showed delayed development compared to euploid blastocysts, but embryo morphokinetics were not correlated to the degree of mosaicism or a mosaicism configuration apt for embryo transfer.
FERTILITY AND STERILITY
(2021)
Article
Genetics & Heredity
Mathias Cavaille, Delphine Crampon, Viorel Achim, Virginie Bubien, Nancy Uhrhammer, Maud Privat, Flora Ponelle-Chachuat, Mathilde Gay-Bellile, Mathis Lepage, Zangbewende Guy Ouedraogo, Natalie Jones, Yannick Bidet, Nicolas Sevenet, Yves-Jean Bignon
Summary: This case report highlights the importance of systematic tumor analysis for patients with PTEN hamartoma syndrome in the absence of any causal variant identified in blood leukocytes. Mosaicism may explain a significant number of cases when no pathogenic variant in the PTEN gene is observed in blood samples. Medical care identical to that of heterozygous carriers should be offered to patients with mosaicism for PTEN.
BMC MEDICAL GENOMICS
(2023)