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
Manuel Viotti, Ermanno Greco, James A. Grifo, Mitko Madjunkov, Clifford Librach, Murat Cetinkaya, Semra Kahraman, Pavel Yakovlev, Nikolay Kornilov, Laura Corti, Anil Biricik, En-Hui Cheng, Ching-Ya Su, Maw-Sheng Lee, Michael D. Bonifacio, Amber R. Cooper, Darren K. Griffin, Diane Y. Tran, Purvi Kaur, Frank L. Barnes, Christo G. Zouves, Andrea R. Victor, Andria G. Besser, Svetlana Madjunkova, Francesca Spinella
Summary: The study found that embryos classified as euploid had a lower risk of spontaneous abortion compared to mosaic embryos, but infants born from mosaic embryo transfers were similar to those born from euploid transfers. Most prenatal tests conducted on pregnancies from mosaic embryo transfers showed normal results, and mosaicism resolved during most pregnancies.
FERTILITY AND STERILITY
(2023)
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
Obstetrics & Gynecology
Lin Cheng, Bettina Meiser, Rajneesh Kaur, Nancy Briggs, Edwin Kirk, Kristine Barlow-Stewart, Debra Kennedy
Summary: Based on the analysis of survey data from the Royal Australian and New Zealand College of Obstetricians and Gynaecologists and the Fertility Society of Australia and New Zealand, the majority of health professionals were willing to discuss mosaic embryos with patients to facilitate informed decision making. However, there was uncertainty among healthcare professionals regarding the transfer of mosaic embryos, indicating a lack of standardized transfer policy. Obstetricians, gynaecologists, and those with multiprofessional backgrounds showed deficiencies in several self-rated competencies, suggesting the need for targeted education in order to optimize the quality of care for women considering the transfer of mosaic embryos.
REPRODUCTIVE BIOMEDICINE ONLINE
(2023)
Article
Biochemistry & Molecular Biology
A. Martin, A. Mercader, F. Dominguez, A. Quinonero, M. Perez, R. Gonzalez-Martin, A. Delgado, A. Mifsud, A. Pellicer, M. J. de los Santos
Summary: Aneuploidy in preimplantation embryos is a common cause of reproductive failure. Preimplantation genetic testing for aneuploidy (PGT-A) can identify embryos with mosaic patterns of diploid and aneuploid cells, which have the potential to develop into healthy infants. This study used RNA sequencing to compare gene expression profiles in different parts of blastocysts with varying levels of chromosomal mosaicism. The results showed that mosaic embryos have distinct gene expression patterns and pathways related to apoptosis, mitosis, protein degradation, metabolism, and mitochondrial energy production. Additionally, mosaic embryos exhibited mitotic delays compared to euploid controls. These findings suggest that embryos with mosaic results have a unique molecular identity that contributes to their reproductive potential.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2023)
Article
Genetics & Heredity
Miroslav Hornak, Katerina Bezdekova, David Kubicek, Rostislav Navratil, Veronika Hola, Maria Balcova, Magdalena Bohmova, Katerina Weisova, Katerina Vesela
Summary: PGT-M allows early diagnosis of monogenic disorders, preventing their transmission in affected families. This study describes a PGT protocol using next-generation sequencing for mutation testing, haplotyping, and aneuploidy screening.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2023)
Article
Obstetrics & Gynecology
Min Yang, Xin Tao, Katherine Scott, Yiping Zhan, Richard T. Scott, Emre Seli
Summary: The study revealed that embryos with different developmental potentials exhibit different DNA methylation profiles at the blastocyst stage, indicating a potential negative correlation between genome-wide methylation level and embryo quality.
HUMAN REPRODUCTION
(2021)
Article
Genetics & Heredity
Emma Stocker, Sheila Johal, Larisa Rippel, Rebecca Darrah
Summary: The study aims to identify the specific likelihoods that an embryo will be suitable for transfer based on the inheritance pattern of a monogenic disorder and the inclusion of aneuploidy analysis. The results showed that there were significantly fewer embryos appropriate for transfer when aneuploidy analysis was included. Regardless of the inclusion of aneuploidy analysis, there were fewer embryos suitable for transfer in autosomal recessive and X-linked disorders.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2022)
Article
Cell Biology
Reina Jochems, Carla Canedo-Ribeiro, Giuseppe Silvestri, Martijn F. L. Derks, Hanne Hamland, Louisa J. Zak, Egbert F. Knol, Alan H. Handyside, Eli Grindflek, Darren K. Griffin
Summary: Preimplantation genetic testing for aneuploidy (PGT-A) is widely used in humans and improves pregnancy and live birth rates in cattle. In pigs, PGT-A offers a potential solution to improve in vitro embryo production (IVP), but the incidence and origin of chromosomal errors in pig embryos have not been well studied. This study used SNP-based PGT-A algorithms to examine natural and IVP porcine embryos and found a higher rate of chromosomal errors in IVP embryos compared to natural embryos. The findings suggest that the high incidence of chromosomal abnormalities may explain the low success of porcine IVP and that PGT-A may have potential for improving embryo transfer success.
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
Endocrinology & Metabolism
Norbert Gleicher, David H. Barad, Zion Ben-Rafael, Demian Glujovsky, Lyka Mochizuki, Deepak Modi, Maximillian Murtinger, Pasquale Patrizio, Raoul Orvieto, Shizuko Takahashi, Andrea Weghofer, Soren Ziebe
Summary: There are three main shortcomings in the guidelines regarding the clinical management of PGT-A: lack of clear endorsement, reliance on previous guidance lacking professional requirements, contradiction with basic biological characteristics of embryos.
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Nor-Shahida Abdul Rahman, Nor-Ashikin Mohamed Noor Khan, Zolkapli Eshak, Mimi-Sophia Sarbandi, Aqila-Akmal Mohammad Kamal, Mastura Abd Malek, Fathiah Abdullah, Maizaton Atmadini Abdullah, Fezah Othman
Summary: Studies have shown that L-glutathione (GSH) supplementation can improve preimplantation development of embryos. This study aims to determine whether GSH supplementation in culture media improves in vitro culture and vitrification outcomes, as observed through embryo morphology and preimplantation development. The results indicate that GSH supplementation can enhance blastocyst formation and decrease ROS levels, improving embryonic cryotolerance.
Article
Endocrinology & Metabolism
Zhanhui Ou, Yu Deng, Yunhao Liang, Zhiheng Chen, Ling Sun
Summary: This study demonstrates the feasibility of using NGS for conducting PGT for thalassemia in affected embryos. The NGS analysis produced consistent results with prenatal diagnosis and gene analysis, and resulted in high clinical pregnancy and live birth rates.
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY
(2022)
Article
Veterinary Sciences
Yasumitsu Masuda, Ryo Hasebe, Yasushi Kuromi, Masayoshi Kobayashi, Kanako Urataki, Mitsugu Hishinuma, Tetsuya Ohbayashi, Ryo Nishimura
Summary: The study utilized optical coherence tomography (OCT) to evaluate the quality of bovine preimplantation embryos and found that OCT imaging can be used to select high-quality embryos for transfer. Results suggest that TE volume may be a key parameter for the evaluation of bovine embryos, indicating the potential of OCT in improving embryo selection for successful pregnancies.
FRONTIERS IN VETERINARY SCIENCE
(2021)
Article
Biochemistry & Molecular Biology
Sebastian Canovas, Elena Ivanova, Meriem Hamdi, Fernando Perez-Sanz, Dimitrios Rizos, Gavin Kelsey, Pilar Coy
Summary: The study found that in vitro culture affects DNA methylation, and the sex-specific methylation differences in blastocysts vary in embryos from different sources. Methylation differences were more frequent in the first intron than in CpGi in promoters, and sex produced a stronger bias in the results than embryo origin.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Ermanno Greco, Katarzyna Litwicka, Maria Giulia Minasi, Elisabetta Cursio, Pier Francesco Greco, Paolo Barillari
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2020)
Article
Environmental Sciences
Donatella Paoli, Francesco Pallotti, Anna Pia Dima, Elena Albani, Carlo Alviggi, Franco Causio, Carola Conca Dioguardi, Alessandro Conforti, Rosanna Ciriminna, Gemma Fabozzi, Giuseppe Giuffrida, Roberto Gualtieri, Maria Giulia Minasi, Simona Ochetti, Valerio Pisaturo, Cinzia Racca, Laura Rienzi, Elena Sarcina, Catello Scarica, Giovanna Tomasi, Cristina Verlengia, Rita Villeggia, Federica Zullo, Andrea Lenzi, Francesco Botre, Lucia De Santis
Article
Biology
Anil Biricik, Ettore Cotroneo, Maria Giulia Minasi, Pier Francesco Greco, Sara Bono, Matteo Surdo, Federica Lecciso, Mariateresa Sessa, Francesco Fiorentino, Francesca Spinella, Ermanno Greco
Summary: The study evaluated the performance of two different NGS platforms for the detection of whole and segmental mosaic aneuploidies, demonstrating high specificity and sensitivity in detecting mosaicism above 30% and a resolution of segmental abnormalities above 5.0 Mb. The findings suggest that NGS methodologies are capable of accurately detecting chromosomal mosaicism and segmental aneuploidies, potentially reducing false-negative and false-positive diagnoses in a clinical setting.