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https://www.readbyqxmd.com/read/28433375/mosaicism-between-trophectoderm-and-inner-cell-mass
#1
REVIEW
Antonio Capalbo, Laura Rienzi
Defining the actual incidence and prevalence of mosaicism in human blastocysts still remains a difficult task. The small amount of evidence generated by animal and human studies does not support the existence of mechanisms involved in developmental arrest, clonal depletion, or aneuploidy rescue for abnormal cells in euploid/aneuploid embryos during preimplantation development. However, studies in humans are mainly descriptive and lack functional evidence. Understanding the biological mechanisms that beset preimplantation differentiation holds the potential to reveal the role of aneuploidies and gene dosage imbalances in cell fate decision, providing important clues on the origin and evolution of embryonic mosaicism...
April 19, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28433373/preimplantation-genetic-diagnosis-for-aneuploidy-testing-in-women-older-than-44-years-a-multicenter-experience
#2
Filippo Maria Ubaldi, Danilo Cimadomo, Antonio Capalbo, Alberto Vaiarelli, Laura Buffo, Elisabetta Trabucco, Susanna Ferrero, Elena Albani, Laura Rienzi, Paolo E Levi Setti
OBJECTIVE: To report laboratory and clinical outcomes in preimplantation genetic diagnosis for aneuploidies (PGD-A) cycles for women 44 to 47 years old. DESIGN: Multicenter, longitudinal, observational study. SETTING: In vitro fertilization (IVF) centers. PATIENT(S): One hundred and thirty-seven women aged 44.7 ± 0.7 years (range: 44.0-46.7) undergoing 150 PGD-A cycles during April 2013 to January 2016. INTERVENTION(S): Quantitative polymerase chain reaction-based PGD-A on trophectoderm biopsies and cryopreserved euploid single-embryo transfer (SET)...
April 19, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28433371/in%C3%A2-vitro-fertilization-with-preimplantation-genetic-diagnosis-for-aneuploidies-in-advanced-maternal-age-a-randomized-controlled-study
#3
Carmen Rubio, José Bellver, Lorena Rodrigo, Gema Castillón, Alfredo Guillén, Carmina Vidal, Juan Giles, Marcos Ferrando, Sergio Cabanillas, José Remohí, Antonio Pellicer, Carlos Simón
OBJECTIVE: To determine the clinical value of preimplantation genetic diagnosis for aneuploidy screening (PGD-A) in women of advanced maternal age (AMA; between 38 and 41 years). DESIGN: This was a multicenter, randomized trial with two arms: a PGD-A group with blastocyst transfer, and a control group with blastocyst transfer without PGD-A. SETTING: Private reproductive centers. PATIENT(S): A total of 326 recruited patients fit the inclusion criteria, and 205 completed the study (100 in the PGD-A group and 105 in the control group)...
April 19, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28433370/assessing-the-true-incidence-of-mosaicism-in-preimplantation-embryos
#4
REVIEW
Maria Vera-Rodriguez, Carmen Rubio
Modern technologies applied to the field of preimplantation genetic diagnosis for aneuploidy screening (PGD-A) have improved the ability to identify the presence of mosaicism. Consequently, new questions can now be addressed regarding the potential impact of embryo mosaicism on diagnosis accuracy and the feasibility of considering mosaic embryos for transfer. The frequency of chromosomal mosaicism in products of conception (POCs) of early miscarriages has been reported to be low. Mosaic embryos with an aneuploid inner cell mass are typically lost during the first trimester owing to spontaneous miscarriages...
April 19, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28433368/chromosomal-mosaicism-detected-during-preimplantation-genetic-screening-results-of-a-worldwide-web-based-survey
#5
REVIEW
Ariel Weissman, Gon Shoham, Zeev Shoham, Simon Fishel, Milton Leong, Yuval Yaron
Embryonic mosaicism, the presence of more than one distinct cell line within an embryo, has recently become the focus of growing attention and controversy in the context of preimplantation genetic screening (PGS). To evaluate the extent of mosaic aneuploidy in clinical practice and to gain insight on the practices and views regarding this issue, we conducted a survey using a prospective, 20-item Web-based questionnaire with questions related to practices and views regarding mosaicism in PGS. A total of 102 in vitro fertilization (IVF) units from 32 countries that performed 108,900 IVF cycles annually responded to the survey...
April 19, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28431828/clinical-use-of-monopronucleated-zygotes-following-blastocyst-culture-and-preimplantation-genetic-screening-including-verification-of-biparental-chromosome-inheritance
#6
Cara K Bradley, Maria Traversa, Natalie Hobson, Alison J Gee, Steven J McArthur
In assisted reproduction, embryos derived from monopronucleated (1PN) zygotes are considered abnormal and unsuitable for clinical use. Outcomes of 1PN-derived embryos designated for preimplantation genetic screening (PGS) were analysed. These embryos, especially from intracytoplasmic sperm injection (ICSI), were found to have a low developmental potential; 1PN and 2PN day 5 blastocyst development for IVF was 14.8% versus 36.4% (P < 0.0001), and for ICSI, 6.6% versus 34.0% (P < 0.0001), respectively. With the use of comparative genomic hybridization or next-generation sequencing, PGS was successfully carried out for 74 IVF and 32 ICSI 1PN-derived blastocysts, revealing adjusted abnormality rates of 39...
March 27, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28428962/a-higher-ovarian-response-after-stimulation-for-ivf-is-related-to-a-higher-number-of-euploid-embryos
#7
Elena Labarta, Ernesto Bosch, Amparo Mercader, Pilar Alamá, Emilia Mateu, Antonio Pellicer
This study has analysed the relationship between ovarian response and the number of euploid embryos. This is a post hoc analysis of a subset of data generated during a prospective cohort study previously published. Forty-six oocyte donors were subjected to ovarian stimulation with 150 IU of rFSH and 75 IU of hp-hMG in a GnRH agonist long protocol. Preimplantation genetic screening was performed in all viable embryos. We observed a positive relationship between ovarian response and the number of euploid embryos...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28428943/pathogenic-variant-in-nlrp7-19q13-42-associated-with-recurrent-gestational-trophoblastic-disease-data-from-early-embryo-development-observed-during-in-vitro-fertilization
#8
E Scott Sills, Alexandra J Obregon-Tito, Harry Gao, Thomas K McWilliams, Anthony T Gordon, Catharine A Adams, Rima Slim
OBJECTIVE: To describe in vitro development of human embryos derived from an individual with a homozygous pathogenic variant in NLRP7 (19q13.42) and recurrent hydatidiform mole (HM), an autosomal recessive condition thought to occur secondary to an oocyte defect. METHODS: A patient with five consecutive HM pregnancies was genomically evaluated via next generation sequencing followed by controlled ovarian hyperstimulation, in vitro fertilization (IVF) with intracytoplasmic sperm injection, embryo culture, and preimplantation genetic screening...
March 2017: Clinical and Experimental Reproductive Medicine
https://www.readbyqxmd.com/read/28428361/single-tube-dodecaplex-pcr-panel-of-polymorphic-microsatellite-markers-closely-linked-to-the-dmpk-ctg-repeat-for-preimplantation-genetic-diagnosis-of-myotonic-dystrophy-type-1
#9
Mulias Lian, Mingjue Zhao, Caroline G Lee, Samuel S Chong
BACKGROUND: Preimplantation genetic diagnosis (PGD) of myotonic dystrophy type 1 (DM1) currently uses conventional PCR to detect nonexpanded dystrophia myotonica protein kinase (DMPK) alleles or triplet-primed PCR to detect the CTG-expanded alleles, coupled with analysis of linked microsatellite markers to increase diagnostic accuracy. We aimed to simplify the process of identification and selection of informative linked markers for application to DM1 PGD. METHODS: An in silico search was performed to identify all markers within 1-1...
April 20, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28421495/chapter-11-human-embryo-vitrification
#10
Juergen Liebermann
Cryopreservation is one of the keystones in clinical infertility treatment. In particular vitrification has become a well-established and widely used routine procedure that has allowed important expansion of therapeutic strategies when IVF is used to treat infertility. Vitrification of human blastocysts allows us to maximize the potential for conception from any single in vitro fertilization cycle and prevents wastage of embryos. The technology may even be used to eliminate fresh embryo transfers for reasons of convenience, uterine receptivity, fertility preservation, preimplantation genetic diagnosis, or emergency management...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28416168/non-invasive-preimplantation-genetic-screening-using-array-comparative-genomic-hybridization-on-spent-culture-media-a-proof-of-concept-pilot-study
#11
Michael Feichtinger, Enrico Vaccari, Luca Carli, Elisabeth Wallner, Ulrike Mädel, Katharina Figl, Simone Palini, Wilfried Feichtinger
The aim of this pilot study was to assess if array comparative genomic hybridization (aCGH), non-invasive preimplantation genetic screening (PGS) on blastocyst culture media is feasible. Therefore, aCGH analysis was carried out on 22 spent blastocyst culture media samples after polar body PGS because of advanced maternal age. All oocytes were fertilized by intracytoplasmic sperm injection and all embryos underwent assisted hatching. Concordance of polar body analysis and culture media genetic results was assessed...
March 28, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28401070/simple-and-easy-to-perform-preimplantation-genetic-diagnosis-for-%C3%AE-thalassemia-major-using-combination-of-conventional-and-fluorescent-polymerase-chain-reaction
#12
Rasoul Salehi, Sharifeh Khosravi, Mansour Salehi, Majid Kheirollahi, Hossein Khanahmad
BACKGROUND: Thalassemias are the most common monogenic disorders in many countries throughout the world. The best practice to control the prevalence of the disease is prenatal diagnosis (PND) services. Extensive practicing of PND proved effective in reducing new cases but on the other side of this success high abortion rate is hided, which ethically unfair and for many couples, especially with a previous experience of a therapeutic abortion, or moral concerns, is not a suitable choice...
2017: Advanced Biomedical Research
https://www.readbyqxmd.com/read/28397763/endoplasmic-reticulum-stress-and-homeostasis-in-reproductive-physiology-and-pathology
#13
REVIEW
Elif Guzel, Sefa Arlier, Ozlem Guzeloglu-Kayisli, Mehmet Selcuk Tabak, Tugba Ekiz, Nihan Semerci, Kellie Larsen, Frederick Schatz, Charles Joseph Lockwood, Umit Ali Kayisli
The endoplasmic reticulum (ER), comprises 60% of the total cell membrane and interacts directly or indirectly with several cell organelles i.e., Golgi bodies, mitochondria and proteasomes. The ER is usually associated with large numbers of attached ribosomes. During evolution, ER developed as the specific cellular site of synthesis, folding, modification and trafficking of secretory and cell-surface proteins. The ER is also the major intracellular calcium storage compartment that maintains cellular calcium homeostasis...
April 8, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28394645/new-protocol-based-on-massive-parallel-sequencing-for-aneuploidy-screening-of-preimplantation-human-embryos
#14
Xavier Vendrell, Victoria Fernández-Pedrosa, Juan Carlos Triviño, Rosa Bautista-Llácer, Carmen Collado, Oscar Rodríguez, Elena García-Mengual, Empar Ferrer, Carmen Calatayud, Miguel Ruiz-Jorro
Novel next-generation sequencing procedures have rapidly emerged into the preimplantation genetic screening framework. This work presents the design and validation of a new low-coverage whole-genome sequencing assay for aneuploidy detection in single blastomeres and trophectodermal samples from preimplantation embryos. The validation ensures analytical sensitivity, specificity, robustness, precision, limit of detection, resolution, and reproducibility. Specific parameters to measure the performance are defined, and the results are compared with a standardized array-based method to stablish the concordance...
June 2017: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/28393271/analysis-of-implantation-and-ongoing-pregnancy-rates-following-the-transfer-of-mosaic-diploid-aneuploid-blastocysts
#15
Elpida Fragouli, Samer Alfarawati, Katharina Spath, Dhruti Babariya, Nicoletta Tarozzi, Andrea Borini, Dagan Wells
Preimplantation genetic testing for aneuploidy (PGT-A) is widely used in IVF and aims to improve outcomes by avoiding aneuploid embryo transfers. Chromosomal mosaicism is extremely common in early development and could affect the efficacy of PGT-A by causing incorrect embryo classification. Recent innovations have allowed accurate mosaicism detection in trophectoderm samples taken from blastocysts. However, there is little data concerning the impact of mosaicism on viability, and the optimal clinical pathway for such embryos is unclear...
April 9, 2017: Human Genetics
https://www.readbyqxmd.com/read/28390694/advanced-maternal-age-patients-benefit-from-preimplantation-genetic-diagnosis-of-aneuploidy
#16
EDITORIAL
Santiago Munné, Jacques Cohen
No abstract text is available yet for this article.
April 6, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28390692/detection-of-mosaicism-at-blastocyst-stage-with-the-use-of-high-resolution-next-generation-sequencing
#17
REVIEW
Santiago Munné, Dagan Wells
A significant proportion of human preimplantation embryos produced during the course of in vitro fertilization (IVF) treatments contain two or more cytogenetically distinct cell lines. This phenomenon, known as chromosomal mosaicism, can involve the presence of cells with different types of aneuploidy in the absence of any normal cells or a mixture of euploid and abnormal cells. Although a high prevalence of mosaicism at the cleavage and blastocyst stages has been appreciated for two decades, the precise frequency of the phenomenon and its consequences for embryo viability have been difficult to quantify...
April 6, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28387858/mitochondrial-dna-quantification-as-a-tool-for-embryo-viability-assessment-retrospective-analysis-of-data-from-single-euploid-blastocyst-transfers
#18
K Ravichandran, C McCaffrey, J Grifo, A Morales, M Perloe, S Munne, D Wells, E Fragouli
STUDY QUESTION: Does the amount of mitochondrial DNA (mtDNA) in blastocyst biopsy specimens have the potential to serve as a biomarker of euploid embryo implantation ability, independent of morphology? SUMMARY ANSWER: The results of this study strongly suggest that elevated mtDNA levels, above a previously defined threshold, are strongly associated with blastocyst implantation failure and represent an independent biomarker of embryo viability. WHAT IS KNOWN ALREADY: Improved methods of embryo selection are highly desirable in order to increase the efficiency of IVF treatment...
April 6, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28381082/embryo-transfer-a-review-of-timing-and-techniques
#19
Pietro Bortoletto, Jennifer Bakkensen, Raymond M Anchan
Since the first successful human in vitro fertilization (IVF) pregnancy nearly 40 years ago, remarkable progress has been made in assisted reproductive technology (ART). Improvements in oocyte retrieval, embryo culture, genetic screening, and embryo selection have contributed to dramatic improvements in IVF outcomes. A more robust understanding of embryologic development has driven innovation in not only the timing of embryo transfer but also the number of embryos to transfer. Additionally, overcoming the technical hurdle of embryo vitrification has given both physicians and patients several benefits including the flexibility to mitigate effects of superovulation on the endometrium, limit the number of embryos transferred, afforded an opportunity to screen the quality of embryos both by evaluating in vitro development as well as preimplantation genetic testing...
April 4, 2017: Minerva Endocrinologica
https://www.readbyqxmd.com/read/28362386/in-vitro-differentiation-of-human-pluripotent-stem-cells-into-trophoblastic-cells
#20
Jianle Wang, Montserrat C Anguera
The placenta is the first organ to develop during embryogenesis and is required for the survival of the developing embryo. The placenta is comprised of various trophoblastic cells that differentiate from the extra-embryonic trophectoderm cells of the preimplantation blastocyst. As such, our understanding of the early differentiation events of the human placenta is limited because of ethical and legal restrictions on the isolation and manipulation of human embryogenesis. Human pluripotent stem cells (hPSCs) are a robust model system for investigating human development and can also be differentiated in vitro into trophoblastic cells that express markers of the various trophoblast cell types...
March 16, 2017: Journal of Visualized Experiments: JoVE
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