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)
Article
Obstetrics & Gynecology
Xinyuan Li, Yan Hao, Dawei Chen, Dongmei Ji, Wanbo Zhu, Xiaoqian Zhu, Zhaolian Wei, Yunxia Cao, Zhiguo Zhang, Ping Zhou
Summary: The study showed that using non-invasive preimplantation genetic testing (niPGT) on cell-free DNA in blastocyst culture medium can provide reliable diagnostic performance for putative mosaic blastocysts. This novel approach offers potential for reassessment of mosaic embryos and may be a minimally invasive option for maximizing the use of blastocysts. However, the study is limited by its small sample size, highlighting the need for further research to validate these findings.
HUMAN REPRODUCTION
(2021)
Article
Endocrinology & Metabolism
Hongyi Yang, Yan Liu, Wenbin Niu, Zilan Yang, Yang Wang, Haixia Jin, Gang Li
Summary: This study aimed to evaluate the influence of abnormal semen parameters on embryo aneuploidy using a single nucleotide polymorphism microarray (SNP array). The results showed that abnormal semen parameters may affect embryo quality and increase the rate of aneuploidy in blastocyst chromosomes.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Obstetrics & Gynecology
Songchang Chen, Xuyang Yin, Sijia Zhang, Jun Xia, Ping Liu, Pingyuan Xie, Huijuan Yan, Xinming Liang, Junyu Zhang, Yiyao Chen, Hongjun Fei, Lanlan Zhang, Yuting Hu, Hui Jiang, Ge Lin, Fang Chen, Chenming Xu
Summary: WGS offers a cost-effective and reliable approach for genome-wide haplotyping and PGT for monogenic disorders, aneuploidy, and structural rearrangements without the need for additional family members, showing 100% concordance with traditional PGT methods.
HUMAN REPRODUCTION
(2021)
Article
Genetics & Heredity
Jingnan Liao, Keli Luo, Dehua Cheng, Pingyuan Xie, Yueqiu Tan, Liang Hu, Guangxiu Lu, Fei Gong, Ge Lin
Summary: The purpose of the study was to explore the reproductive outcomes of women with Turner syndrome in preimplantation genetic testing cycles. Embryo X chromosome abnormal rates were significantly higher in TS women than women with normal karyotype. Cumulative live birth rates after PGT-NGS treatment were lower in TS compared to the control group.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2021)
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)
Review
Obstetrics & Gynecology
Luis Navarro-Sanchez, Carmen Garcia-Pascual, Carmen Rubio, Carlos Simon
Summary: Aneuploidy is common among preimplantation human embryos used in assisted reproductive technology, and current testing methods involve invasive biopsy. However, emerging evidence suggests that embryos secrete cell-free DNA into their culture medium, indicating the potential for a non-invasive assay for aneuploidy. Embryonic cell-free DNA analysis shows high concordance with current methods and can help prioritize blastocysts for transfer, increasing implantation rates and reducing miscarriage rates and time to achieve pregnancy.
REPRODUCTIVE BIOMEDICINE ONLINE
(2022)
Article
Genetics & Heredity
Hui Yang, Andrew Thomas DeWan, Mayur M. M. Desai, Sten H. H. Vermund
Summary: Preimplantation genetic testing for aneuploidy is widely used in IVF procedures worldwide, but there are concerns about its use in clinical decision-making. Challenges include the test being a screening rather than diagnostic tool, high rates of mosaicism in blastocysts, and lack of clinical validation before use in patients. Current professional policies relying on industry self-regulation are deemed insufficient, and more definitive guidelines and regulations are needed.
Article
Genetics & Heredity
Barbara Wirleitner, Martina Hruba, Maximilian Schuff, Libor Hradecky, Astrid Stecher, Adriane Damko, Juergen Stadler, Dietmar Spitzer, Marlene Obkircher, Maximilian Murtinger
Summary: This study evaluated the decline in transferable embryos in PGT-A cycles, finding high rates of embryo drop-out as well as failure in genetic analysis. Advanced maternal age patients were more likely to end up without any suitable embryo for transfer.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2023)
Article
Obstetrics & Gynecology
Norbert Gleicher, David H. Barad, Pasquale Patrizio, Raoul Orvieto
Summary: The hypothesis of preimplantation genetic testing for aneuploidy (PGT-A) was proposed 20 years ago, but recent studies have shown that its application does not have significant advantages and may even result in adverse outcomes when patient selection biases are reversed. Additionally, high embryo mosaicism leads to the unnecessary discarding of normal embryos, causing harm to patients. Therefore, it is recommended to restrict PGT-A to research protocols and to encourage professional societies to issue appropriate practice guidelines.
HUMAN REPRODUCTION
(2022)
Article
Obstetrics & Gynecology
Mina Popovic, Lorena Borot, Aline R. Lorenzon, Ana Luiza Rossi de Castro Lopes, Denny Sakkas, Belen Lledo, Ruth Morales, Jose Antonio Ortiz, Nikolaos P. Polyzos, Monica Parriego, Felicitas Azpiroz, Micaela Galain, Aida Pujol, Bjorn Menten, Lien Dhaenens, Frauke Vanden Meerschaut, Dominic Stoop, Maria Rodriguez, Enrique Perez de la Blanca, Amelia Rodriguez, Rita Vassena
Summary: The diagnosis of mosaicism affects the ploidy rates across different providers offering preimplantation genetic testing for aneuploidies (PGT-A), with providers reporting low rates of mosaicism having significantly higher euploidy rates.
HUMAN REPRODUCTION
(2023)
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)
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)
Article
Obstetrics & Gynecology
Chenxi Li, Yujie Dang, Jing Li, Hongchang Li, Yueting Zhu, Yingying Qin
Summary: The study suggests that preimplantation genetic testing (PGT) is not necessary for women with X chromosome abnormalities (XCAs) in the absence of other indications. XCAs are common chromosomal aberrations in infertile women, with Turner Syndrome patients having low pregnancy rates and high chances of birth defects.
HUMAN REPRODUCTION
(2021)
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
Agriculture, Dairy & Animal Science
Nicole M. Lewis, Carla Canedo-Ribeiro, Claudia C. Rathje, Rebecca L. Jennings, Maxim Danihel, Lisa M. Bosman, Giuseppe Silvestri, Darren K. Griffin
Summary: This study focuses on the issue of sub-fertility in breeding bulls in the cattle industry and proposes an RT screening program and estimates the economic impact. The results show that using RT screening methods can reduce economic losses per bull over six years, which is also important for the overall cost and environmental protection in the cattle industry.
Article
Obstetrics & Gynecology
D. K. Griffin, P. R. Brezina, K. Tobler, Yulian Zhao, G. Silvestri, R. C. Mccoy, R. Anchan, A. Benner, G. R. Cutting, W. G. Kearns
Summary: In human embryos, aneuploid cells are sequestered away from the inner cell mass (ICM) and distributed to the trophectoderm (TE) and peripheral cells (PCs) during blastulation. The study suggests that embryos may normalize to a euploid state during this process. These findings have important implications for preimplantation and prenatal genetic testing.
HUMAN REPRODUCTION
(2023)
Article
Genetics & Heredity
Kathryn D. Sanders, Darren K. Griffin, Henry J. Martell, Joshua Blazek, Michael Large, Tony Gordon
Summary: The purpose of this study is to determine the proportion of mosaic embryos that can be considered for transfer and evaluate their impact on patient cases. Mosaic embryos were categorized into high, medium, and low priority groups based on the percentage of aneuploidy in the biopsy sample and the chromosomes involved. The results showed that only around 4.5% of all PGT-A cases would consider mosaic embryos for transfer, when considering high and medium priority and excluding low priority cases.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2023)
Review
Agriculture, Dairy & Animal Science
Darren K. Griffin, Denis M. Larkin, Rebecca E. O'Connor, Michael N. Romanov
Summary: The similarity in genome organization between birds and dinosaurs suggests that dinosaurs may have had similar genetic structures, which could explain their diversity in appearance and function. The study of dinosaur genomics is important and can be inferred through comparative genomics with extant species. Birds and other reptiles have both large and small chromosomes in their genomes, with birds having a higher number of chromosomes. Recent research indicates that this genome organization pattern was likely established around 255 million years ago, and is also present in some turtle species.
Article
Agriculture, Dairy & Animal Science
Ivan I. Kochish, Evgeni A. Brazhnik, Nikolai I. Vorobyov, Ilya N. Nikonov, Maxim V. Korenyuga, Olga V. Myasnikova, Darren K. Griffin, Peter F. Surai, Michael N. Romanov
Summary: In this study, fractal models were used to analyze the gene expression in chicken embryos of different breeds. The results showed specific coordinated patterns of gene expression in the embryonic breast and thigh muscles, which correlated with chick growth rate and breed utility type. These fractal models provided additional insights into genetic diversity and coordinated gene expression in chickens.
Review
Agronomy
Saida N. Marzanova, Davud A. Devrishov, Irina S. Turbina, Nurbiy S. Marzanov, Darren K. Griffin, Michael N. Romanov
Summary: This review explores the concept of genetic load from the perspectives of molecular genetics, development, and selective breeding. It focuses on the assessment of genetic mutations causing three inherited diseases in Holstein breed and its crossbreeds, namely bovine leukocyte adhesion deficiency (CD18 locus), complex vertebral malformation (SLC35A3 locus), and brachyspina (FANCI locus). The reasons for the occurrence and accumulation of these mutations in breeding herds are discussed, including intense artificial selection and the sale of breeding material from a small population of sires. The study provides a genogeographic overview of the mutation occurrence in 31 countries and classifies the genetic load into different types.
Review
Biology
V. G. Narushin, M. N. Romanov, D. K. Griffin
Summary: Artists use imagery, while scientists use mathematical formulae to describe the universe and natural environment. This review focuses on the mathematical description of egg shapes in birds and the recent development of the Narushin-Romanov-Griffin (NRG) model, which successfully combines biological and mathematical concepts. The NRG model provides an exact mathematical description of any bird's egg shape, including spherical, elliptical, ovoid, and pear-shaped eggs.
Article
Genetics & Heredity
Jules Claeys, Michael N. Romanov, Darren K. Griffin
Summary: Avian chromosomes undergo more intra- than interchromosomal rearrangements, which either induce or are associated with genome variations among birds. Understanding the link between the structural organization and functionality of homologous synteny blocks (HSBs) and evolutionary breakpoint regions (EBRs) provides insight into the mechanistic basis of chromosomal change. Our analysis of six bird genomes and one lizard genome identified 630 HSBs and 19 EBRs, demonstrating the vast functionality of HSBs that have been largely conserved through evolution.
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
Biology
Michael N. Romanov, Alexandra S. Abdelmanova, Vladimir I. Fisinin, Elena A. Gladyr, Natalia A. Volkova, Dmitry V. Anshakov, Olga I. Stanishevskaya, Anatoly B. Vakhrameev, Arsen V. Dotsev, Darren K. Griffin, Natalia A. Zinovieva
Summary: This study investigated the genomes of 19 Russian chicken breeds, evaluating the differences between egg, meat, and dual-purpose types. Differences in genomic regions being selected for were identified using DNA markers. The research provides insights into the genetic diversity and demographic history of Russian domestic chickens, which is essential for successful breeding.
Article
Biotechnology & Applied Microbiology
Alena A. Grozina, Larisa A. Ilina, Georgiy Yu Laptev, Elena A. Yildirim, Ekaterina S. Ponomareva, Valentina A. Filippova, Darya G. Tyurina, Vladimir Fisinin, Ivan I. Kochish, Darren K. Griffin, Peter F. Surai, Michael N. Romanov
Summary: This study analyzed the gut microbiota of broiler chickens and found that using a combination of antibiotics and probiotics in feed had positive effects on the microbial composition and body weight of the chickens. Different bacterial communities were observed in different parts of the intestine, and their impact on chicken growth was established.
JOURNAL OF APPLIED MICROBIOLOGY
(2023)
