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Trophectoderm biopsy

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https://www.readbyqxmd.com/read/29224066/genome-wide-copy-number-alteration-detection-in-preimplantation-genetic-diagnosis
#1
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
#2
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%C3%A2-vitro-fertilization-treatments
#3
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...
November 28, 2017: 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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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...
October 14, 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
#11
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
#12
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%)...
September 21, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28982142/optimal-timing-of-blastocyst-vitrification-after-trophectoderm-biopsy-for-preimplantation-genetic-screening
#13
Hsiu-Hui Chen, Chun-Chia Huang, En-Hui Cheng, Tsung-Hsien Lee, Lee-Feng Chien, Maw-Sheng Lee
Is the timing of vitrification after trophectoderm (TE) biopsy associated with successful implantation and pregnancy after the embryo transfer of blastocysts subjected to preimplantation genetic screening (PGS)? In this retrospective cohort study, 1329 blastocysts from 223 patients were subjected to TE biopsy for performing array comparative genomic hybridization (CGH) tests. The PGS and frozen blastocyst transfer (FET) cycles were performed from December 2012 to May 2015. Only the good quality and expanded blastocysts on day 5 or 6 were selected for biopsy...
2017: PloS One
https://www.readbyqxmd.com/read/28971891/embryo-cell-allocation-patterns-are-not-altered-by-biopsy-but-can-be-linked-with-further-development
#14
Lessly Pilar Sepulveda-Rincon, Nadia Islam, Peter Marsters, Bruce K Campbell, Nathalie Beaujean, Walid E Maalouf
It has been suggested that first embryo cleavage can be related with the embryonic-abembryonic axis at blastocyst stage in mice. Thus, cells of the 2 cell embryo might be already biased to form the inner cell mass or trophectoderm. This study was conducted to observe the possible effects of embryo biopsy on cell allocation patterns during embryo pre-implantation in two different mouse strains and the effects of these patterns on further development. First, one blastomere of the 2-cell embryo was injected with a lipophilic tracer and cell allocation patterns were observed at blastocyst stage...
September 29, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28923286/abnormally-fertilized-oocytes-can-result-in-healthy-live-births-improved-genetic-technologies-for-preimplantation-genetic-testing-can-be-used-to-rescue-viable-embryos-in-in-vitro-fertilization-cycles
#15
Antonio Capalbo, Nathan Treff, Danilo Cimadomo, Xin Tao, Susanna Ferrero, Alberto Vaiarelli, Silvia Colamaria, Roberta Maggiulli, Giovanna Orlando, Catello Scarica, Richard Scott, Filippo Maria Ubaldi, Laura Rienzi
OBJECTIVE: To test whether abnormally fertilized oocyte (AFO)-derived blastocysts are diploid and can be rescued for clinical use. DESIGN: Longitudinal-cohort study from January 2015 to September 2016 involving IVF cycles with preimplantation genetic testing for aneuploidy (PGT-A). Ploidy assessment was incorporated whenever a blastocyst from a monopronuclear (1PN) or tripronuclear zygote (2PN + 1 smaller PN; 2.1 PN) was obtained. SETTING: Private IVF clinics and genetics laboratories...
September 15, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28921398/preliminary-analysis-of-numerical-chromosome-abnormalities-in-reciprocal-and-robertsonian-translocation-preimplantation-genetic-diagnosis-cases-with-24-chromosomal-analysis-with-an-acgh-snp-microarray
#16
Yanxin Xie, Yanwen Xu, Jing Wang, Benyu Miao, Yanhong Zeng, Chenhui Ding, Jun Gao, Canquan Zhou
PURPOSE: The aim of this study was to determine whether an interchromosomal effect (ICE) occurred in embryos obtained from reciprocal translocation (rcp) and Robertsonian translocation (RT) carriers who were following a preimplantation genetic diagnosis (PGD) with whole chromosome screening with an aCGH and SNP microarray. We also analyzed the chromosomal numerical abnormalities in embryos with aneuploidy in parental chromosomes that were not involved with a translocation and balanced in involved parental translocation chromosomes...
September 18, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28900794/diagnosis-of-parental-balanced-reciprocal-translocations-by-trophectoderm-biopsy-and-comprehensive-chromosomal-screening
#17
L W Sundheimer, L Liu, R P Buyalos, G Hubert, Z Al-Safi, M Shamonki
PURPOSE: This study investigates a case series of eight couples who underwent trophectoderm (TE) biopsy and comprehensive chromosomal screening (CCS) for routine aneuploidy screening and were found to have CCS results concerning for previously undetected parental balanced reciprocal translocations. METHODS: In each case, controlled ovarian hyperstimulation and in vitro fertilization (IVF) yielded multiple blastocysts that each underwent CCS with high-density oligonucleotide microarray comparative genomic hybridization (aCGH)...
September 12, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28894983/earlier-day-of-blastocyst-development-is-predictive-of-embryonic-euploidy-across-all-ages-essential-data-for-physician-decision-making-and-counseling-patients
#18
Amy Kaing, Lindsay L Kroener, Robyn Tassin, Man Li, Lian Liu, Richard Buyalos, Gary Hubert, Mousa Shamonki
PURPOSE: The purpose of this study is to evaluate whether day of blastocyst development is associated with embryo chromosomal status as determined by high-density oligonucleotide microarray comparative genomic hybridization (aCGH). METHODS: This is a retrospective cohort analysis, including women who underwent in vitro fertilization (IVF) with trophectoderm biopsy at a single private fertility center from January 2014 to December 2014. Repeat cycles were excluded...
September 11, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28851825/embryo-biopsy-and-development-the-known-and-the-unknown
#19
REVIEW
Federica Zacchini, Roberta Arena, Adam Abramik, Grazyna E Ptak
Preimplantation genetic diagnosis (PGD) has been introduced in clinical practice as a tool for selecting 'healthy' embryos before their transfer in utero. PGD protocols include biopsy of cleaving embryos (blastomere biopsy (BB)) or blastocysts (trophectoderm biopsy (TB)), followed by genetic analysis to select 'healthy' embryos for transfer in utero. Currently, TB is replacing the use of BB in the clinical practice. However, based on the European Society of Human Reproduction and Embryology Preimplantation Genetic Diagnosis Consortium reports, BB has been used in >87% of PGD cycles for more than 10 years...
November 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28837028/chromosomal-analysis-of-blastocyst-derived-from-monopronucleated-icsi-zygotes-approach-by-double-trophectoderm-biopsy
#20
Silvia Mateo, Francesca Vidal, Lluc Coll, Anna Veiga, Montserrat Boada
OBJECTIVE: This study aims to increase the knowledge about monopronucleated ICSI-derived blastocysts, analyzing trophectoderm biopsies by aCGH and FISH to evaluate their chromosome constitution. METHODS: Fifteen monopronucleated ICSI-derived blastocysts were studied. Double trophectoderm biopsy was performed and analyzed by FISH and aCGH. The blastocysts were classified according to chromosome constitution. Disagreements between the two techniques were assessed...
September 1, 2017: JBRA Assisted Reproduction
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