Article
Genetics & Heredity
Yinghui Ye, Jieliang Ma, Long Cui, Sijia Lu, Fan Jin
Summary: This study demonstrated that NGS for PGT on day-3 embryos is an effective clinical application, especially for patients with diminished ovarian reserve and limited embryos. The euploid rate for different translocations varied significantly, and double embryo transfer showed higher success rates compared to single embryo transfer.
FRONTIERS IN GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Hiroki Nagai, Mai Okada, Yoko Nagai, Yoshiyuki Sakuraba, Hiroaki Okae, Ryosuke Suzuki, Satoshi Sugimura
Summary: Partial compaction is a self-correction mechanism observed in both human and bovine embryos to avoid aneuploid mosaicism. Excluded blastomeres in embryos are more likely to be aneuploid, while the remaining morulae show euploidy. Abnormal cleavages, such as reverse and direct cleavages, occur more frequently in the excluded blastomeres, suggesting their potential role in the self-correction mechanism during mammalian preimplantation embryo development.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2021)
Review
Biochemistry & Molecular Biology
Maja Tomic, Eda Vrtacnik Bokal, Martin Stimpfel
Summary: This review discusses recent advancements in preimplantation genetic testing (PGT) of embryos. Different PGT methods and analysis of genetic materials are presented. Non-invasive PGT-A (niPGT-A) is a novel approach that analyzes genetic material in spent embryo culture media (SECM). However, niPGT-A has limitations including lower quantity and quality of cell-free genetic material and unknown origin.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Endocrinology & Metabolism
Zhuo Liang, Qiuyue Wen, Jingjing Li, Dingyuan Zeng, Pinxiu Huang
Summary: This meta-analysis demonstrates that PGT-A in RPF patients is associated with improved clinical outcomes, including higher IR, CPR, OPR, and LBR values, and lower CMR compared to the IVF/ICSI group. These findings support the positive clinical application of PGT-A in RPF patients.
FRONTIERS IN ENDOCRINOLOGY
(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
Endocrinology & Metabolism
Baoli Yin, Huijuan Zhang, Juanke Xie, Yubao Wei, Cuilian Zhang, Li Meng
Summary: Using spent culture medium (SCM) as a source of DNA for preimplantation genetic testing aneuploidy (PGT-A) has been widely discussed. However, our study found that DNA in SCM samples had lower quality and quantity compared to TE samples, leading to lower interpretability and full chromosomal concordance rates. TE still remains a more accurate and reliable high-throughput methodology for PGT-A.
REPRODUCTIVE BIOLOGY AND ENDOCRINOLOGY
(2021)
Review
Obstetrics & Gynecology
Cengiz Cinnioglu, Heather Glessner, Amy Jordan, Sydney Bunshaft
Summary: Noninvasive and minimally invasive preimplantation genetic testing for aneuploidy (PGT-A) has the potential to become the gold standard for embryonic chromosomal screening. The current research focuses on finding a reliable source of DNA without the need for embryo biopsy. Although the general concordance rates of noninvasive and minimally invasive PGT-A are promising, further research is needed before it can be widely used in clinics.
FERTILITY AND STERILITY
(2023)
Review
Medicine, General & Internal
Tijana Vlajkovic, Mihaela Grigore, Rik van Eekelen, Lucian Puscasiu
Summary: In preimplantation genetic testing for monogenic disorders (PGT-M), embryo biopsy can be performed at either day 3 or day 5 of embryo development. However, there is a lack of summarised evidence from randomized controlled trials (RCTs) that assesses the effectiveness and safety of day 5 biopsy compared to day 3 biopsy. The current evidence is of very low certainty and it remains uncertain whether day 5 embryo biopsy has an effect on live births, miscarriages, and other secondary outcomes.
COCHRANE DATABASE OF SYSTEMATIC REVIEWS
(2022)
Review
Obstetrics & Gynecology
Elias M. Dahdouh
Summary: Preimplantation genetic testing for aneuploidy is an invasive technique used in IVF cycles to select euploid embryos for transfer after biopsy and cytogenetic analysis. The technique does not improve ongoing pregnancy rates per cycle in the general IVF population, but is beneficial for a selected category of patients with normal ovarian reserve and should be performed by experienced IVF clinics. If no euploid embryo is available after testing, a low-level mosaic embryo can be considered for transfer with appropriate genetic counseling.
OBSTETRICS AND GYNECOLOGY
(2021)
Article
Immunology
Danielle Rodrigues Cortez, Fabio Mitsuo Lima, Joao Luis Reis-Cunha, Daniella Castanheira Bartholomeu, Rolando Andre Rios Villacis, Silvia Regina Rogatto, Andre Guilherme Costa-Martins, Fernanda Sycko Marchiano, Rafaela Andrade do Carmo, Jose Franco da Silveira, Marjorie Mendes Marini
Summary: In this study, the genetic differences between two lineages of Chagas disease-causing parasite T. cruzi were analyzed using intraspecific array-based comparative genomic hybridization (aCGH). The results showed that clone D11 had more chromosomal gains and losses compared to the parental G strain. These genomic changes suggest a dynamic genome in clone D11 that responds to environmental stress by altering gene copy numbers and generating segmental aneuploidy.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2022)
Article
Obstetrics & Gynecology
Moti Gulersen, Alexandra Peyser, Jiyoung Kim, Amanda Ferraro, Randi Goldman, Christine Mullin, Xueying Li, David Krantz, Eran Bornstein, Burton Rochelson
Summary: The study suggests that preimplantation genetic testing for aneuploidy (PGT-A) does not reduce the risk of abnormal prenatal screening results in singleton pregnancies conceived through in vitro fertilization. Rates of screening and diagnostic testing were similar between pregnancies conceived with PGT-A and those conceived without testing.
JOURNAL OF PERINATAL MEDICINE
(2022)
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
Genetics & Heredity
Steve Grkovic, Maria Traversa, Mark Livingstone, Steven J. McArthur
Summary: The study found that blastocysts with mosaic segmental duplications, rather than segmental aneuploidy as a whole, are the main cause of false-positive PGT-A results, and they have a similar live birth rate to euploid blastocysts. Performing confirmatory clinical TE biopsies can increase confidence in the reliability of PGT-A results.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2022)
Article
Genetics & Heredity
Lisa McNamee, Sarah Clark, Barrie Suskin
Summary: This study assessed the knowledge of generalist OB/GYN providers on aneuploidy screening recommendations for patients who utilized preimplantation genetic testing (PGT), and found significant knowledge gaps among physicians. Efforts should be made to educate providers on the importance of offering aneuploidy screening and diagnostic testing to improve patient care.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2023)
Article
Obstetrics & Gynecology
Pavel Yakovlev, Svetlana Vyatkina, Alex Polyakov, Marina Pavlova, Victor Volkomorov, Maksim Yakovlev, Sergey Filimonov, Liya Kazaryn, Asia Aizikovich, Nikolay Kornilov
Summary: This study compared the clinical and neonatal outcomes between mosaic embryo transfers (MET) and euploid embryo transfers (EET). The results showed that EET had a higher implantation rate and live birth rate (LBR) compared to MET and whole chromosome mosaic (WCM) embryos. Segmental mosaic embryos had similar outcomes to euploid embryos, while mosaic embryos with a high percentage of aneuploid cells had a lower LBR and higher risk of miscarriage.
REPRODUCTIVE BIOMEDICINE ONLINE
(2022)
Meeting Abstract
Obstetrics & Gynecology
M. Vega, K. Martin, I. Sirota, E. Gonzales, D. Stein
FERTILITY AND STERILITY
(2012)
Meeting Abstract
Obstetrics & Gynecology
I. Sirota, D. E. Stein
FERTILITY AND STERILITY
(2012)
Meeting Abstract
Obstetrics & Gynecology
M. Sauerbrun-Cutler, M. Lederman, M. Keltz, M. Lee, D. Stein
FERTILITY AND STERILITY
(2012)
Meeting Abstract
Obstetrics & Gynecology
A. Breborowicz, M. Vega, M. Sauerbrun, I. Sirota, D. Stein, M. D. Keltz
FERTILITY AND STERILITY
(2013)
Meeting Abstract
Obstetrics & Gynecology
M. Vega, A. Breborowicz, S. Morris, I. Sirota, E. Gonzales, M. D. Keltz
FERTILITY AND STERILITY
(2013)
Meeting Abstract
Obstetrics & Gynecology
M. Vega, A. Breborowicz, M. Sauerbrun, I. Sirota, E. Gonzales, M. D. Keltz
FERTILITY AND STERILITY
(2013)
Meeting Abstract
Obstetrics & Gynecology
M-T Sauerbrun-Cutler, S. Ozensoy, M. Vega, M. Keltz
FERTILITY AND STERILITY
(2013)