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https://www.readbyqxmd.com/read/29790071/impact-of-polar-body-biopsy-on-embryo-morphokinetics-back-to-the-roots-in-preimplantation-genetic-testing
#1
Michael Schenk, Andrea Groselj-Strele, Katharina Eberhard, Elisabeth Feldmeier, Darja Kastelic, Stefanie Cerk, Gregor Weiss
PURPOSE: Polar body biopsy (PBB) is a common technique in preimplantation genetic testing (PGT) to assess the chromosomal status of the oocyte. Numerous studies have been implemented to investigate the impact of biopsies on embryo development; however, information on embryo morphokinetics is still lacking. Hence, we investigated the impact of PBB on morphokinetic parameters in early embryo development. METHODS: Four hundred four embryos (202 PBB, 202 control) were retrospectively analyzed...
May 22, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29788175/prevalence-of-xxy-karyotypes-in-human-blastocysts-multicentre-data-from-7549-trophectoderm-biopsies-obtained-during-preimplantation-genetic-testing-cycles-in-ivf
#2
Rossella Mazzilli, Danilo Cimadomo, Laura Rienzi, Antonio Capalbo, Paolo Emanuele Levi Setti, Claudia Livi, Damiano Vizziello, Carlo Foresta, Alberto Ferlin, Filippo Maria Ubaldi
STUDY QUESTION: Which is the prevalence of a 47,XXY karyotype in human blastocysts biopsied during preimplantation genetic testing for aneuploidies (PGT-A) cycles? SUMMARY ANSWER: The prevalence of a 47,XXY karyotype amongst male blastocysts without autosomal aneuploides is ~1%. WHAT IS KNOWN ALREADY: The prevalence of Klinefelter syndrome is estimated as 0.1-0.2% in male newborns. However, the KS phenotype is extremely variable and there are men with a 47,XXY karyotype and less evident signs, who may go undetected...
May 19, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29781739/preimplantation-genetic-diagnosis-as-a-strategy-to-prevent-having-a-child-born-with-an-heritable-eye-disease
#3
Claudia Yahalom, Michal Macarov, Galit Lazer-Derbeko, Gheona Altarescu, Tal Imbar, Jordana H Hyman, Talia Eldar-Geva, Anat Blumenfeld
BACKGROUND: In developed countries, genetically inherited eye diseases are responsible for a high percentage of childhood visual impairment. We aim to report our experience using preimplantation genetic diagnostics (PGD) in order to avoid transmitting a genetic form of eye disease associated with childhood visual impairment and ocular cancer. MATERIAL AND METHODS: Retrospective case series of women who underwent in vitro fertilization (IVF) and PGD due to a familial history of inherited eye disease and/or ocular cancer, in order to avoid having a child affected with the known familial disease...
May 21, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29778385/frequencies-of-chromosome-specific-mosaicisms-in-trophoectoderm-biopsies-detected-by-next-generation-sequencing
#4
Gary Nakhuda, Chen Jing, Rachel Butler, Colleen Guimond, Jason Hitkari, Elizabeth Taylor, Niamh Tallon, Albert Yuzpe
OBJECTIVE: To examine the chromosome-specific frequencies of mosaicism detected by next-generation sequencing (NGS) compared with constitutional aneuploidy. DESIGN: Retrospective cross-sectional review of NGS results from trophectoderm biopsies analyzed by per-chromosome prevalence of mosaicism and constitutional aneuploidy. SETTING: Private fertility clinic. PATIENT(S): A total of 378 patients who underwent preimplantation genetic screening by NGS for routine clinical indications from February 2016 to April 2017...
May 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29774457/vitamin-d-as-a-follicular-marker-of-human-oocyte-quality-and-a-serum-marker-of-in-vitro-fertilization-outcome
#5
Przemysław Ciepiela, Antoni J Dulęba, Ewelina Kowaleczko, Kornel Chełstowski, Rafał Kurzawa
PURPOSE: This study investigated the relationship between the vitamin D [25(OH)D] level in individual follicles and oocyte developmental competence. METHODS: A prospective cohort study in a private infertility center. Infertile women (N = 198) scheduled for intracytoplasmic sperm injection (ICSI) and a single embryo transfer (SET) provided serum samples and 322 follicular fluid (FF) specimens, each from a single follicle on the day of oocyte retrieval. RESULTS: FFs corresponding to successfully fertilized oocytes (following ICSI) contained significantly lower 25(OH)D level compared with those that were not fertilized (28...
May 17, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29771291/long-noncoding-rnas-exchange-during-zygotic-genome-activation-in-goat
#6
Mingtian Deng, Yongjie Wan, Zifei Liu, Caifang Ren, Guomin Zhang, Jing Pang, Yanli Zhang, Feng Wang
In mammals, their proper development during the early cleavage stages strongly relies on the gene products newly transcribed by zygotic genome activation (ZGA). Long noncoding RNAs (lncRNAs) have been characterized as key regulators of the ZGA process in mice and human. However, the ZGA stage has not yet been identified and epigenetic regulations of the ZGA process remain largely unknown in goats. Here, we show that ZGA occurred at the 8-cell stage in goats. During ZGA, tri-methylation of H3K9 was dynamically changed but maintained strong staining in development arrested embryos...
May 15, 2018: Biology of Reproduction
https://www.readbyqxmd.com/read/29768947/linking-back-to-back-stimulation-cycles-with-oral-contraceptives-or-progestins-in-women-undergoing-embryo-accumulation-for-preimplantation-genetic-testing-a-retrospective-study
#7
Jorge Rodriguez-Purata, Marta Devesa, Mónica Parriego, Clara Pardos, Ignacio Rodriguez, Nikolaos P Polyzos, Francisca Martínez, Buenaventura Coroleu
This retrospective study was carried out to determine which strategy is associated with improved outcomes in two back-to-back cycles when undergoing embryo accumulation. Eighty patients with two stimulation cycles performed with <45 days between retrievals between Jan'16-Mar'17 were included. Patients were segregated according to the strategy used to link stimulations: spontaneous menses (SM), vaginal micronized progesterone (VMP) or oral contraceptive pills (OCP). Main outcome measure was oocytes retrieved...
May 17, 2018: Gynecological Endocrinology
https://www.readbyqxmd.com/read/29766333/treatment-of-donor-cells-with-recombinant-kdm4d-protein-improves-preimplantation-development-of-cloned-ovine-embryos
#8
Yumei Zhang, Qianqian Wang, Kailing Liu, Enen Gao, Hong Guan, Jian Hou
Incomplete epigenetic reprogramming is one of the major factors affecting the development of embryos cloned by somatic cell nuclear transfer (SCNT). Histone 3 lysine 9 (H3K9) trimethylation has been identified as a key barrier to efficient reprogramming by SCNT. The aim of this study was to explore a method of downregulating H3K9me3 levels in donor cells by using histone lysine demethylase (KDM) protein. When sheep fetal fibroblast cells were treated with recombinant human KDM4D protein (rhKDM4D), the levels of H3K9 trimethylation and dimethylation were both significantly decreased...
May 15, 2018: Cytotechnology
https://www.readbyqxmd.com/read/29764212/the-clinical-application-of-single-sperm-based-snp-haplotyping-for-pgd-of-osteogenesis-imperfecta
#9
Linjun Chen, Zhenyu Diao, Zhipeng Xu, Jianjun Zhou, Guijun Yan, Haixiang Sun
Osteogenesis imperfecta (OI) is a genetically heterogeneous disorder, presenting either autosomal dominant, autosomal recessive or X-linked inheritance patterns. The majority of OI cases are autosomal dominant and are caused by heterozygous mutations in either the COL1A1 or COL1A2 gene. In these dominant disorders, allele dropout (ADO) can lead to misdiagnosis in preimplantation genetic diagnosis (PGD). Polymorphic markers linked to the mutated genes have been used to establish haplotypes for identifying ADO and ensuring the accuracy of PGD...
May 15, 2018: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/29746572/evaluation-of-a-novel-non-invasive-preimplantation-genetic-screening-approach
#10
Valeriy Kuznyetsov, Svetlana Madjunkova, Ran Antes, Rina Abramov, Gelareh Motamedi, Zenon Ibarrientos, Clifford Librach
OBJECTIVE: To assess whether embryonic DNA isolated from blastocyst culture conditioned medium (BCCM) combined with blastocoel fluid (BF) could be used for blastocyst stage non-invasive preimplantation genetic testing for chromosomal aneuploidy (non-invasive preimplantation genetic screening, NIPGS). PATIENTS: 47 embryos from 35 patients undergoing IVF. INTERVENTIONS: DNA analysis of combined BCCM plus BF in comparison with trophectoderm (TE) biopsy and/or whole blastocyst (WB)using next generation sequencing (NGS)...
2018: PloS One
https://www.readbyqxmd.com/read/29741587/obesity-in-mares-promotes-uterine-inflammation-and-alters-embryo-lipid-fingerprints-and-homeostasis
#11
Dawn R Sessions-Bresnahan, Adam L Heuberger, Elaine M Carnevale
Maternal body composition can be an important determinant for development of obesity and metabolic syndrome in adult offspring. Obesity-related outcomes in offspring may include epigenetic alterations; however, mechanisms of fetal programming remain to be fully elucidated. This study was conducted to determine the impact of maternal obesity in the absence of a high fat diet on equine endometrium and preimplantation embryos. Embryos were collected from normal and obese mares at 8 and 16 d and a uterine biopsy at 16 d (0 d = ovulation)...
May 7, 2018: Biology of Reproduction
https://www.readbyqxmd.com/read/29741247/prenatal-and-preimplantation-diagnosis-of-hemoglobinopathies
#12
REVIEW
C Vrettou, G Kakourou, T Mamas, J Traeger-Synodinos
The hemoglobinopathies, as a group, are one of the most common serious monogenic diseases in the world. An accepted and widely adopted approach to reduce the number of new cases involves carrier-screening programs, with the option of prenatal diagnosis (PND) or preimplantation diagnosis (preimplantation genetic testing for monogenic disease, PGT-M) for carrier couples. The aim of PND is to provide an accurate result as early in pregnancy as possible, which necessitates prior identification of the parental disease-causing mutations, as well as safe and timely biopsy of fetal material...
May 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29724534/low-anti-m%C3%A3-llerian-hormone-concentration-is-associated-with-increased-risk-of-embryonic-aneuploidy-in-women-of-advanced-age
#13
Xiao Jiang, Junhao Yan, Yan Sheng, Mei Sun, Linlin Cui, Zi-Jiang Chen
RESEARCH QUESTION: Does an association exist between serum anti-Müllerian hormone (AMH) level, the marker of biological ovarian age, and embryonic aneuploidy risk in recurrent spontaneous miscarriage (RSM) patients of reproductive age? DESIGN: This retrospective study included a total of 422 IVF cycles of 394 unexplained RSM patients undergoing preimplantation genetic testing for aneuploidy (PGT-A), enrolled from January 2014 to December 2016. Subjects were divided into three groups according to the 25th (1...
April 13, 2018: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29722258/diet-impacts-preimplantation-histotroph-proteome-in-beef-cattle
#14
KaLynn Harlow, Emily Taylor, Theresa Casey, Victoria Hedrick, Tiago Sobreira, Uma K Aryal, Ronald P Lemenager, Bethany Funnell, Kara Stewart
In ruminants, the period from fertilization to implantation is relatively prolonged, and survival of embryos depends on uterine secretions, or histotroph. Our objective was to determine if prebreeding diet affected histotroph proteome in beef cattle. Cows were assigned to 1 of 4 diets: control (CON), high protein (PROT), high fat (OIL), or high protein and fat (PROT+OIL). After 185d on diets, an intravaginal progesterone implant (CIDR) was inserted for 7 days. At 9 days post CIDR removal, animals with a corpus luteum were selected (n = 16; 4/treatment)...
May 3, 2018: Journal of Proteome Research
https://www.readbyqxmd.com/read/29720659/chromatin-analysis-in-human-early-development-reveals-epigenetic-transition-during-zga
#15
Jingyi Wu, Jiawei Xu, Bofeng Liu, Guidong Yao, Peizhe Wang, Zili Lin, Bo Huang, Xuepeng Wang, Tong Li, Senlin Shi, Nan Zhang, Fuyu Duan, Jia Ming, Xiangyang Zhang, Wenbin Niu, Wenyan Song, Haixia Jin, Yihong Guo, Shanjun Dai, Linli Hu, Lanlan Fang, Qiujun Wang, Yuanyuan Li, Wei Li, Jie Na, Wei Xie, Yingpu Sun
Upon fertilization, drastic chromatin reorganization occurs during preimplantation development 1 . However, the global chromatin landscape and its molecular dynamics in this period remain largely unexplored in humans. Here we investigate chromatin states in human preimplantation development using an improved assay for transposase-accessible chromatin with high-throughput sequencing (ATAC-seq) 2 . We find widespread accessible chromatin regions in early human embryos that overlap extensively with putative cis-regulatory sequences and transposable elements...
May 2, 2018: Nature
https://www.readbyqxmd.com/read/29717049/mouse-embryo-cryopreservation-by-rapid-cooling
#16
Jillian Shaw
Embryo cryopreservation has been used to archive mouse strains. Protocols have evolved over this time and now vary considerably in terms of cryoprotectant solution, cooling and warming rates, methods to add and remove cryoprotectant, container or carrier type, volume of cryoprotectant, the stage of preimplantation development, and the use of additional treatments such as blastocyst puncture and microinjection. The rapid cooling methods use concentrated solutions of cryoprotectants to reduce the water content of the cell before cooling commences, thus preventing the formation of ice crystals...
May 1, 2018: Cold Spring Harbor Protocols
https://www.readbyqxmd.com/read/29714058/the-impact-of-contemporary-preimplantation-genetic-screening-and-diagnosis-on-the-detection-of-aneuploidy-and-inherited-genetic-diseases
#17
REVIEW
Shelby A Neal, Marie D Werner
Pre-implantation genetic screening and diagnosis represent important tools for embryo selection in patients undergoing in vitro fertilization. Methods have evolved in recent years and it can be challenging to remain up to date on the current technology. This review article seeks to provide an overview of pre-implantation genetic screening and diagnosis methods, the associated clinical outcomes, and the limitations of this technology.
May 1, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29714056/selection-of-preimplantation-embryos-using-time-lapse-microscopy-in-in-vitro-fertilization-state-of-the-technology-and-future-directions
#18
REVIEW
Belén Aparicio-Ruiz, Laura Romany, Marcos Meseguer
In this review, our aim is to give an overview of the state of the technology and clinical outcomes of time-lapse microscopy in improving embryo selection as a key step in in vitro fertilization (IVF). Using traditional incubators, morphologic assessment of the fertilized embryos is limited to snapshots at a few discrete points in time, reducing the amount of information that could potentially be obtained. Time-lapse monitoring overcomes this limitation without exposing the embryos to environmental changes...
May 1, 2018: Birth Defects Research
https://www.readbyqxmd.com/read/29708901/metabolism-of-the-oocyte-and-the-preimplantation-embryo-implications-for-assisted-reproduction
#19
Richard Scott, Man Zhang, Emre Seli
PURPOSE OF REVIEW: To discuss the common aspects of energy generation in the cell, substrate utilization by the oocyte and the preimplantation embryos, metabolic characteristics of the reproductive tract, and how metabolic characteristics of an embryo can be exploited to assess viability. RECENT FINDINGS: Utilization of pyruvate, lactate and glucose by the oocyte and the preimplantation embryo seems to be tightly controlled by the most essential molecular regulatory pathways...
June 2018: Current Opinion in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29704227/low-estradiol-responses-in-oocyte-donors-undergoing-gonadotropin-stimulation-do-not-influence-clinical-outcomes
#20
Katherine L Palmerola, Briana J Rudick, Rogerio A Lobo
PURPOSE: To examine the effect of low and very low estradiol responses in oocyte donors receiving gonadotropins on clinical outcomes of donor in vitro fertilization (IVF) cycles and to identify possible mechanisms responsible for low estradiol response. METHODS: This is a retrospective cohort study of oocyte donors undergoing antagonist IVF cycles with progression to oocyte retrieval between January 2010 and December 2016 at a single urban academic fertility center...
April 27, 2018: Journal of Assisted Reproduction and Genetics
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