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Trophectoderm biopsy

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https://www.readbyqxmd.com/read/29471395/origin-and-composition-of-cell-free-dna-in-spent-medium-from-human-embryo-culture-during-preimplantation-development
#1
M Vera-Rodriguez, A Diez-Juan, J Jimenez-Almazan, S Martinez, R Navarro, V Peinado, A Mercader, M Meseguer, D Blesa, I Moreno, D Valbuena, C Rubio, C Simon
STUDY QUESTION: What is the origin and composition of cell-free DNA in human embryo spent culture media? SUMMARY ANSWER: Cell-free DNA from human embryo spent culture media represents a mix of maternal and embryonic DNA, and the mixture can be more complex for mosaic embryos. WHAT IS KNOWN ALREADY: In 2016, ~300 000 human embryos were chromosomally and/or genetically analyzed using preimplantation genetic testing for aneuploidies (PGT-A) or monogenic disorders (PGT-M) before transfer into the uterus...
February 20, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29452698/are-cleavage-anomalies-multinucleation-or-specific-cell-cycle-kinetics-observed-with-time-lapse-imaging-predictive-of-embryo-developmental-capacity-or-ploidy
#2
Nina Desai, Jeffrey M Goldberg, Cynthia Austin, Tommaso Falcone
OBJECTIVE: To determine whether cleavage anomalies, multinucleation, and specific cellular kinetic parameters available from time-lapse imaging are predictive of developmental capacity or blastocyst chromosomal status. DESIGN: Retrospective analysis of prospectively collected data. SETTING: Single academic center. PATIENT(S): A total of 1,478 zygotes from patients with blastocysts biopsied for preimplantation genetic screening were cultured in the EmbryoScope...
February 13, 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29373974/degree-of-mosaicism-in-trophectoderm-does-not-predict-pregnancy-potential-a-corrected-analysis-of-pregnancy-outcomes-following-transfer-of-mosaic-embryos
#3
Vitaly A Kushnir, Sarah K Darmon, David H Barad, Norbert Gleicher
BACKGROUND: Preimplantation genetic screening (PGS) is increasingly utilized as an adjunct procedure to IVF. Recently healthy euploid live birth were reported following transfer of mosaic embryos. Several recent publications have surmised that the degree of trophectoderm (TE) mosaicism in transferred embryos is predictive of ongoing pregnancy and miscarriage rates. METHODS: This is a corrected analysis of previously published retrospective data on vitro fertilization (IVF) cycle outcomes involving replacement of 143 mosaic and 1045 euploid embryos tested by PGS, utilizing high-resolution next-generation sequencing (NGS) of TE and determination of percentages of mosaicism...
January 26, 2018: Reproductive Biology and Endocrinology: RB&E
https://www.readbyqxmd.com/read/29366772/validation-of-a-targeted-next-generation-sequencing-based-comprehensive-chromosome-screening-platform-for-detection-of-triploidy-in-human-blastocysts
#4
Diego Marin, Rebekah Zimmerman, Xin Tao, Yiping Zhan, Richard T Scott, Nathan R Treff
Triploidy accounts for ~2% of natural pregnancies and 15% of cytogenetically abnormal miscarriages. This study aimed to validate triploidy detection in human blastocysts, its frequency and parental origin using genotyping data generated in parallel with chromosome copy number analysis by a targeted next generation sequencing (tNGS)-based comprehensive chromosome screening platform. Phase 1: diploid and triploid control samples were blinded, sequenced by tNGS and karyotype predictions compared for accuracy. Phase 2: tNGS was used to calculate the frequency of triploidy in 18,791 human blastocysts from trophectoderm (TE) biopsies...
January 2, 2018: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29353449/blastulation-timing-is-associated-with-differential-mitochondrial-content-in-euploid-embryos
#5
Jacqueline R Ho, Nabil Arrach, Katherine Rhodes-Long, Wael Salem, Lynda K McGinnis, Karine Chung, Kristin A Bendikson, Richard J Paulson, Ali Ahmady
PURPOSE: Preimplantation genetic screening (PGS) and assessment of mitochondrial content (MC) are current methods for selection of the best embryos for transfer. Studies suggest that time-lapse morphokinetics (TLM) may also be helpful for selecting embryos more likely to implant. In our study, we sought to examine the relationship between TLM parameters and MC to determine if they could be used adjunctively in embryo selection. We also examined the relationship between MC with ploidy and blastulation...
January 20, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29325267/-analysis-of-clinical-outcomes-of-different-embryo-stage-biopsy-in-array-comparative-genomic-hybridization-based-preimplantation-genetic-diagnosis-and-screening
#6
J D Shen, W Wu, L Shu, L L Cai, J Z Xie, L Ma, X P Sun, Y G Cui, J Y Liu
Objective: To evaluate the efficiency of the application of array comparative genomic hybridization (array-CGH) in preimplantation genetic diagnosis or screening (PGD/PGS), and compare the clinical outcomes of different stage embryo biopsy. Methods: The outcomes of 381 PGD/PGS cycles referred in the First Affiliated Hospital of Nanjing Medical University from July 2011 to August 2015 were retrospectively analyzed. There were 320 PGD cycles with 156 cleavage-stage-biopsy cycles and 164 trophectoderm-biopsy cycles, 61 PGS cycles with 23 cleavage-stage-biopsy cycles and 38 trophectoderm-biopsy cycles...
December 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/29315321/inner-cell-mass-incarceration-in-8-shaped-blastocysts-does-not-increase-monozygotic-twinning-in-preimplantation-genetic-diagnosis-and-screening-patients
#7
Yi-Fan Gu, Qin-Wei Zhou, Shuo-Ping Zhang, Chang-Fu Lu, Fei Gong, Yue-Qiu Tan, Guang-Xiu Lu, Ge Lin
BACKGROUND: The use of assisted reproductive technology (ART) has been reported to increase the incidence of monozygotic twinning (MZT) compared with the incidence following natural conception. It has been hypothesized that splitting of the inner cell mass (ICM) through a small zona hole may result in MZT. In this study, using a cohort of patients undergoing preimplantation genetic diagnosis/screening (PGD/PGS), we compared the clinical and neonatal outcomes of human 8-shaped blastocysts hatching with ICM incarceration with partially or fully hatched blastocysts, and attempted to verify whether this phenomenon increases the incidence of MZT pregnancy or negatively impact newborns...
2018: PloS One
https://www.readbyqxmd.com/read/29307391/variables-associated-with-mitochondrial-copy-number-in-human-blastocysts-what-can-we-learn-from-trophectoderm-biopsies
#8
Maria José de Los Santos, Antonio Diez Juan, Amparo Mifsud, Amparo Mercader, Marcos Meseguer, Carmen Rubio, Antonio Pellicer
OBJECTIVE: To study the potential variables that affect the mitochondrial DNA (mtDNA) content of trophectoderm (TE) cells in blastocysts that have undergone TE biopsy. DESIGN: Observational retrospective single-center analysis. SETTING: University-affiliated private in vitro fertilization center. PATIENT(S): A total of 465 consecutive preimplantation genetic screening (PGS) cycles of 402 women undergoing preimplantation genetic testing...
January 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29224066/genome-wide-copy-number-alteration-detection-in-preimplantation-genetic-diagnosis
#9
Lieselot Deleye, Dieter De Coninck, Dieter Deforce, Filip Van Nieuwerburgh
Shallow whole genome sequencing has recently been introduced for genome-wide detection of chromosomal copy number alterations (CNAs) in preimplantation genetic diagnosis (PGD), using only 4-7 trophectoderm cells biopsied from day-5 embryos. This chapter describes the complete method, starting from whole genome amplification (WGA) on isolated blastomere(s), up to data analysis for CNA detection. The process is described generically and can also be used to perform CNA analysis on a limited number of cells (down to a single cell) in other applications...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29202974/embryo-aneuploidy-is-not-impacted-by-selective-serotonin-reuptake-inhibitor-exposure
#10
Carlos Hernandez-Nieto, Joseph Lee, Taraneh Nazem, Dmitry Gounko, Alan Copperman, Benjamin Sandler
OBJECTIVE: To study whether maternal exposure to selective serotonin reuptake inhibitors (SSRIs) has any influence on rates of blastocyst aneuploidy and/or in vitro fertilization (IVF) cycle outcomes. DESIGN: Retrospective cohort analysis. SETTING: Private and academic IVF center. PATIENT(S): Patients who underwent IVF with preimplantation genetic treatment with trophectoderm biopsy (n = 4,355 cycles) and patients who underwent a single-embryo transfer (SET) between January-2012 and June-2017 (n = 2,132 cycles)...
December 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/29191449/extent-of-chromosomal-mosaicism-influences-the-clinical-outcome-of-in-vitro-fertilization-treatments
#11
Francesca Spinella, Francesco Fiorentino, Anil Biricik, Sara Bono, Alessandra Ruberti, Ettore Cotroneo, Marina Baldi, Elisabetta Cursio, Maria Giulia Minasi, Ermanno Greco
OBJECTIVE: To assess whether the extent of chromosomal mosaicism can influence the success rate of IVF treatments. DESIGN: Prospective study. SETTING: Private genetic and assisted reproduction centers. PATIENT(S): The transfer of mosaic embryos was offered to 77 women for which IVF resulted in no euploid embryos available for transfer. INTERVENTION(S): All embryos were cultured to blastocyst stage; trophectoderm biopsy was performed on day 5/6 of development...
January 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29186554/preclinical-validation-of-a-targeted-next-generation-sequencing-based-comprehensive-chromosome-screening-methodology-in-human-blastocysts
#12
R S Zimmerman, X Tao, D Marin, M Werner, K Hong, A Lonczak, J Landis, D Taylor, Y Zhan, R T Scott, N R Treff
STUDY QUESTION: Can a novel targeted next generation sequencing (tNGS) platform accurately detect whole chromosome aneuploidy in a trophectoderm biopsy and provide additional information to improve testing? SUMMARY ANSWER: Karyotypes obtained by tNGS were concordant with other validated platforms and SNP genotyping information obtained can be used for improved detection and quality control. WHAT IS KNOWN ALREADY: qPCR-based whole chromosome aneuploidy screening is highly accurate in comparison to other common methods and has been shown to improve IVF success in two randomized clinical trials...
November 25, 2017: Molecular Human Reproduction
https://www.readbyqxmd.com/read/29120571/a-healthy-hla-matched-baby-born-by-using-a-combination-of-acgh-and-karyomapping-the-first-latin-american-case
#13
Andrea Delgado, Guillermo Llerena, Rosmary Lopez, Jimmy Portella, Naomi Inoue, Luis Noriega-Hoces, Luis Guzman
PGD for HLA typing is a procedure that can be performed when an affected child requires a transplant to treat a non-hereditary disorder related to the hematopoietic and/or immune system. Hematopoietic stem cell transplantation from an HLA-identical donor provides the best treatment option. Three conventional ovarian stimulation procedures for IVF were performed in a couple with a 10-year-old child diagnosed with T-cell acute lymphoblastic leukemia of high risk. Trophectoderm biopsy and aCGH examination were performed on 15 blastocysts, three on the first IVF procedure, four on the second cycle, and eight on the third...
November 9, 2017: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/29063503/are-blastocyst-aneuploidy-rates-different-between-fertile-and-infertile-populations
#14
Jonathan D Kort, Rajiv C McCoy, Zach Demko, Ruth B Lathi
PURPOSE: This study aimed to determine if patients with infertility or recurrent pregnancy loss have higher rates of embryo aneuploidy than fertile controls. METHODS: This was a retrospective review of all pre-implantation genetic screening (PGS) cases processed by a single reference lab prior to March 2014 after a blastocyst biopsy. Cases were excluded if no indication for PGS was designated or patients were translocation carriers. The fertile control group consisted of patients undergoing IVF with PGS for sex selection only...
October 23, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29044423/cultured-bovine-embryo-biopsy-conserves-methylation-marks-from-original-embryo
#15
Noelia Fonseca Balvís, Soledad Garcia-Martinez, Serafín Pérez-Cerezales, Elena Ivanova, Isabel Gomez-Redondo, Meriem Hamdi, Dimitrios Rizos, Pilar Coy, Gavin Kelsey, Alfonso Gutierrez-Adan
A major limitation of embryo epigenotyping by chromatin immunoprecipitation analysis is the reduced amount of sample available from an embryo biopsy. We developed an in vitro system to expand trophectoderm cells from an embryo biopsy to overcome this limitation. This work analyzes whether expanded trophectoderm (EX) is representative of the trophectoderm (TE) methylation or adaptation to culture has altered its epigenome. We took a small biopsy from the trophectoderm (30-40 cells) of in vitro produced bovine-hatched blastocysts and cultured it on fibronectin-treated plates until we obtained ∼4 × 104 cells...
August 1, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/29040520/clinical-implications-of-mitochondrial-dna-quantification-on-pregnancy-outcomes-a-blinded-prospective-non-selection-study
#16
Elpida Fragouli, Caroline McCaffrey, Krithika Ravichandran, Katharina Spath, James A Grifo, Santiago Munné, Dagan Wells
STUDY QUESTION: Can quantification of mitochondrial DNA (mtDNA) in trophectoderm (TE) biopsy samples provide information concerning the viability of a blastocyst, potentially enhancing embryo selection and improving IVF treatment outcomes? SUMMARY ANSWER: This study demonstrated that euploid blastocysts of good morphology, but with high mtDNA levels had a greatly reduced implantation potential. WHAT IS KNOWN ALREADY: Better methods of embryo selection leading to IVF outcome improvement are necessary, as the transfer of chromosomally normal embryos of high morphological grade cannot guarantee the establishment of an ongoing pregnancy...
November 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29037989/genome-wide-abnormal-dna-methylome-of-human-blastocyst-in-assisted-reproductive-technology
#17
Guoqiang Li, Yang Yu, Yong Fan, Congru Li, Xiaocui Xu, Jialei Duan, Rong Li, Xiangjin Kang, Xin Ma, Xuepeng Chen, Yuwen Ke, Jie Yan, Ying Lian, Ping Liu, Yue Zhao, Hongcui Zhao, Yaoyong Chen, Xiaofang Sun, Jianqiao Liu, Jie Qiao, Jiang Liu
Proper reprogramming of parental DNA methylomes is essential for mammalian embryonic development. However, it is unknown whether abnormal methylome reprogramming occurs and is associated with the failure of embryonic development. Here we analyzed the DNA methylomes of 57 blastocysts and 29 trophectoderm samples with different morphological grades during assisted reproductive technology (ART) practices. Our data reveal that the global methylation levels of high-quality blastocysts are similar (0.30 ± 0.02, mean ± SD), while the methylation levels of low-quality blastocysts are divergent and away from those of high-quality blastocysts...
September 6, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/29037841/first-report-on-an-x-linked-hypohidrotic-ectodermal-dysplasia-family-with-x-chromosome-inversion-breakpoint-mapping-reveals-the-pathogenic-mechanism-and-preimplantation-genetics-diagnosis-achieves-an-unaffected-birth
#18
Tonghua Wu, Biao Yin, Yuanchang Zhu, Guangui Li, Lijun Ye, Desheng Liang, Yong Zeng
BACKGROUND: To investigate the etiology of X-linked hypohidrotic ectodermal dysplasia (XLHED) in a family with an inversion of the X chromosome [inv(X)(p21q13)] and to achieve a healthy birth following preimplantation genetic diagnosis (PGD). METHODS: Next generation sequencing (NGS) and Sanger sequencing analysis were carried out to define the inversion breakpoint. Multiple displacement amplification, amplification of breakpoint junction fragments, Sanger sequencing of exon 1 of ED1, haplotyping of informative short tandem repeat markers and gender determination were performed for PGD...
December 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29032163/massively-parallel-sequencing-on-human-cleavage-stage-embryos-to-detect-chromosomal-abnormality
#19
Zhi Zhou, Yanlin Ma, Qi Li, Yu Zhang, Yuanhua Huang, Zhihua Tu, Ning Ma, Minghong Li, Jun Wang, Jian Li, Weiying Lu
PURPOSE: Next-generation sequencing technology like MPS has recently been introduced to perform comprehensive chromosome screening on human trophectoderm samples for preimplantation embryo assessment. However, the potential of MPS in chromosome analysis of single cell from blastomeres has not yet been investigated. METHODS: In this study, 12 couples underwent MPS analysis, including 9 balanced translocation carriers and 3 carriers of numerical chromosomal abnormalities...
October 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28988928/preimplantation-genetic-screening-results-of-a-worldwide-web-based-survey
#20
Ariel Weissman, Gon Shoham, Zeev Shoham, Simon Fishel, Milton Leong, Yuval Yaron
Our objective was to evaluate and characterize the extent and patterns of worldwide usage of preimplantation genetic screening (PGS) among the assisted reproductive technique community. A prospective, web-based questionnaire with questions relating to practices of, and views on, PGS was directed to users and non-users of PGS. A total of 386 IVF units from 70 countries conducting 342,600 IVF cycles annually responded to the survey. A total of 77% of respondents routinely carry out PGS in their clinics for a variety of indications: advanced maternal age (27%), recurrent implantation failure (32%) and recurrent pregnancy loss (31%)...
December 2017: Reproductive Biomedicine Online
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