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Embryo biopsy

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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
#1
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
#2
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
#3
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/28885040/validation-of-next-generation-sequencer-for-24-chromosome-aneuploidy-screening-in-human-embryos
#4
Kabir Sachdeva, Richard Discutido, Firas Albuz, Rawan Almekosh, Braulio Peramo
BACKGROUND: Next-Generation Sequencing (NGS) is the latest approach for preimplantation genetic diagnoses (PGD). AIM: The purpose of this study was to standardize and validate an NGS method for comprehensive chromosome screening and to investigate its applicability to PGD. METHODS: Embryo biopsy, whole-genome amplification, array comparative genomic hybridization (aCGH), and semiconductor sequencing were employed. RESULTS: A total of 204 whole-genome-amplified products were tested with an NGS-based protocol, from which 100 samples were used for standardization and to evaluate the quality of the results produced by this new technique...
September 8, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28863935/preferential-selection-and-transfer-of-euploid-noncarrier-embryos-in-preimplantation-genetic-diagnosis-cycles-for-reciprocal-translocations
#5
Li Wang, Jiandong Shen, David S Cram, Minyue Ma, Hui Wang, Wenke Zhang, Junmei Fan, Zhiying Gao, Liwen Zhang, Zhifeng Li, Mengnan Xu, Don A Leigh, Alan O Trounson, Jiayin Liu, Yuanqing Yao
OBJECTIVE: To develop and validate a new strategy to distinguish between balanced/euploid carrier and noncarrier embryos in preimplantation genetic diagnosis (PGD) cycles for reciprocal translocations and to successfully achieve a live birth after selective transfer of a noncarrier embryo. DESIGN: Retrospective and prospective study. SETTING: In vitro fertilization (IVF) units. PATIENT(S): Eleven patients undergoing mate pair sequencing for identification of translocation breakpoints, followed by clinical PGD cycles...
August 29, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28854727/effect-of-randomized-serum-progesterone-concentration-on-secretory-endometrial-histologic-development-and-gene-expression
#6
Steven L Young, Ricardo F Savaris, Bruce A Lessey, Andrew M Sharkey, Ursula Balthazar, Richard J Zaino, Robert A Sherwin, Marc A Fritz
STUDY QUESTION: What doses of secretory phase progesterone (P) in women are associated with altered endometrial structure and/or function? SUMMARY ANSWER: Consistently delayed histological maturation was seen at the lowest tested daily P dose (2.5 mg), whereas consistently altered functional response, as reflected by microarray analysis of gene expression was seen at both the 5 and 2.5 mg doses. WHAT IS KNOWN ALREADY: Progesterone is absolutely required for normal embryo implantation and pregnancy survival...
September 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28851825/embryo-biopsy-and-development-the-known-and-unknown
#7
Federica Zacchini, Roberta Arena, Adam Abramik, Grazyna Ewa 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...
August 29, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28837031/can-ovarian-double-stimulation-in-the-same-menstrual-cycle-improve-ivf-outcomes
#8
Maria Cecília de Almeida Cardoso, Alessandra Evangelista, Cássio Sartório, George Vaz, Caio Luis Vieira Werneck, Fernando Marques Guimarães, Paulo Gallo de Sá, Maria Cecília Erthal
OBJECTIVE: To evaluate the double-stimulation protocol efficacy over conventional ovarian stimulation in recovering a more adequate number of oocytes and increase the number of embryos to be transferred or to be genetically analyzed. METHODS: A retrospective and comparative study with 13 patients who underwent unsuccessful in vitro fertilization (IVF) cycles with a conventional antagonist ovarian stimulation protocol and repeat the attempt with a double stimulation protocol...
September 1, 2017: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/28837028/chromosomal-analysis-of-blastocyst-derived-from-monopronucleated-icsi-zygotes-approach-by-double-trophectoderm-biopsy
#9
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
https://www.readbyqxmd.com/read/28837027/expression-of-pgr-hbegf-itgav-itgb3-and-spp1-genes-in-eutopic-endometrium-of-infertile-women-with-endometriosis-during-the-implantation-window-a-pilot-study
#10
Michele G Da Broi, Carlos V Rocha, Juliana Meola, Wellington P Martins, Filomena M Carvalho, Rui A Ferriani, Paula A Navarro
OBJECTIVE: Alterations in endometrial receptivity may be involved in the etiopathogenesis of endometriosis-related infertility. The literature has suggested that patients with endometriosis present progestin resistance, which could affect embryo implantation. We question the presence of alterations in the expression of the progesterone receptor gene (PGR) and the genes related to endometrium-embryo interaction regulated by progesterone. This pilot study compared the expression of PGR, HBEGF, ITGAV, ITGB3, and SPP1 genes in eutopic endometrium during the implantation window (IW) in infertile women with endometriosis with that observed in the endometrium of fertile and infertile controls...
September 1, 2017: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/28815718/a-potential-high-risk-for-fatty-liver-disease-was-found-in-mice-generated-after-assisted-reproductive-techniques
#11
Leilei Gu, Jingjing Zhang, Meimei Zheng, Guoying Dong, Jingyi Xu, Wuyue Zhang, Yibo Wu, Yang Yang, Hui Zhu
Abnormal gametogenesis and embryonic development may lead to poor health status of the offspring. The operations involved in the assisted reproductive technologies (ARTs) occur during the key stage of gametogenesis and early embryonic development. To assess the potential risk of abnormal lipid metabolism in the liver of adult ARTs offspring, two ARTs mice models derived from preimplantation genetic diagnosis (PGD group) and in vitro cultured embryos without biopsy (IVEM group) were constructed. And control mice were from in vivo naturally conceived (Normal group)...
August 16, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28805606/detection-of-sea-type-%C3%AE-thalassemia-in-embryo-biopsies-by-digital-pcr
#12
Ta-Hsien Lee, Ya-Chiung Hsu, Chia Lin Chang
OBJECTIVE: Accurate and efficient pre-implantation genetic diagnosis (PGD) based on the analysis of single or oligo-cells is needed for timely identification of embryos that are affected by deleterious genetic traits in in vitro fertilization (IVF) clinics. Polymerase chain reaction (PCR) is the backbone of modern genetic diagnoses, and a spectrum of PCR-based techniques have been used to detect various thalassemia mutations in prenatal diagnosis (PND) and PGD. Among thalassemias, SEA-type α-thalassemia is the most common variety found in Asia, and can lead to Bart's hydrops fetalis and serious maternal complications...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28797703/preimplantation-genetic-diagnosis-of-x-linked-charcot-marie-tooth-disease-by-indirect-linkage-analysis
#13
Irena Borgulová, Martina Putzová, Inna Soldatova, David Stejskal
OBJECTIVE: To present methodical approach of preimplantation genetic diagnosis (PGD) as an option for an unaffected pregnancy in reproductive-age couples who have a genetic risk of the X-linked dominant peripheral neuropathy Charcot-Marie-Tooth type 1 disease. PATIENTS AND METHODS: We performed PGD of X-linked Charcot-Marie-Tooth type 1 disease using haplotyping/indirect linkage analysis, when during analysis we reach to exclude embryos that carry a high-risk haplotype linked to the causal mutation p...
August 7, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28733530/presence-of-embryonic-dna-in-culture-medium
#14
Linlin Yang, Qiaoying Lv, Wei Chen, Jian Sun, Yu Wu, Yiying Wang, Xiong Chen, Xiaojun Chen, Zhenbo Zhang
Preimplantation genetic diagnosis (PGD) has successfully assisted couples with genetic diseases to conceive healthy babies during the past decades. However, biopsy of the blastomere has potential lesion to the embryos which commonly results in abortion. Thus, a noninvasive PGD is needed. In the past, the presence of genetic materials in maternal plasma or serum has triggered a great innovation of noninvasive prenatal diagnosis. Nevertheless, it is not clear whether embryonic DNA is also present in embryonic culture medium...
June 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28732531/endometrial-scratching-in-women-with-implantation-failure-after-a-first-ivf-icsi-cycle-does-it-lead-to-a-higher-live-birth-rate-the-scratch-study-a-randomized-controlled-trial-ntr-5342
#15
RANDOMIZED CONTROLLED TRIAL
N E van Hoogenhuijze, H L Torrance, F Mol, J S E Laven, E Scheenjes, M A F Traas, C Janssen, B Cohlen, G Teklenburg, J P de Bruin, R van Oppenraaij, J W M Maas, E Moll, K Fleischer, M H van Hooff, C de Koning, A Cantineau, C B Lambalk, M Verberg, M Nijs, A P Manger, M van Rumste, L F van der Voet, A Preys-Bosman, J Visser, E Brinkhuis, J E den Hartog, A Sluijmer, F W Jansen, W Hermes, M L Bandell, M J Pelinck, J van Disseldorp, M van Wely, J Smeenk, Q D Pieterse, J C Boxmeer, E R Groenewoud, M J C Eijkemans, J C Kasius, F J M Broekmans
BACKGROUND: Success rates of assisted reproductive techniques (ART) are approximately 30%, with the most important limiting factor being embryo implantation. Mechanical endometrial injury, also called 'scratching', has been proposed to positively affect the chance of implantation after embryo transfer, but the currently available evidence is not yet conclusive. The primary aim of this study is to determine the effect of endometrial scratching prior to a second fresh in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) cycle on live birth rates in women with a failed first IVF/ICSI cycle...
July 21, 2017: BMC Women's Health
https://www.readbyqxmd.com/read/28722118/at2-r-deficiency-mediated-podocyte-loss-via-activation-of-ectopic-hedgehog-interacting-protein-hhip-gene-expression
#16
Min-Chun Liao, Xin-Ping Zhao, Shiao-Ying Chang, Chao-Sheng Lo, Isabelle Chenier, Tomoko Takano, Julie R Ingelfinger, Shao-Ling Zhang
Angiotensin II type 2 receptor (AT2 R) deficiency in AT2 R knockout (KO) mice has been linked to congenital abnormalities of the kidney and urinary tract; however, the mechanisms by which this occurs are poorly understood. In this study, we examined whether AT2 R deficiency impaired glomerulogenesis and mediated podocyte loss/dysfunction in vivo and in vitro. Nephrin-cyan fluorescent protein (CFP)-transgenic (Tg) and Nephrin/AT2 RKO mice were used to assess glomerulogenesis, while wild-type and AT2 RKO mice were used to evaluate maturation of podocyte morphology/function...
July 19, 2017: Journal of Pathology
https://www.readbyqxmd.com/read/28717645/whole-genome-amplification-of-day-3-or-day-5-human-embryos-biopsies-provides-a-suitable-dna-template-for-pcr-based-techniques-for-genotyping-a-complement-of-preimplantation-genetic-testing
#17
Elizabeth Schaeffer, Bruno López-Bayghen, Adina Neumann, Leonardo M Porchia, Rafael Camacho, Efraín Garrido, Rocío Gómez, Felipe Camargo, Esther López-Bayghen
Our objective was to determine if whole genome amplification (WGA) provides suitable DNA for qPCR-based genotyping for human embryos. Single blastomeres (Day 3) or trophoblastic cells (Day 5) were isolated from 342 embryos for WGA. Comparative Genomic Hybridization determined embryo sex as well as Trisomy 18 or Trisomy 21. To determine the embryo's sex, qPCR melting curve analysis for SRY and DYS14 was used. Logistic regression indicated a 4.4%, 57.1%, or 98.8% probability of a male embryo when neither gene, SRY only, or both genes were detected, respectively (accuracy = 94...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28715372/high-resolution-episcopic-microscopy-hrem-simple-and-robust-protocols-for-processing-and-visualizing-organic-materials
#18
Stefan H Geyer, Barbara Maurer-Gesek, Lukas F Reissig, Wolfgang J Weninger
We provide simple protocols for generating digital volume data with the high-resolution episcopic microscopy (HREM) method. HREM is capable of imaging organic materials with volumes up to 5 x 5 x 7 mm(3) in typical numeric resolutions between 1 x 1 x 1 and 5 x 5 x 5 µm(3). Specimens are embedded in methacrylate resin and sectioned on a microtome. After each section an image of the block surface is captured with a digital video camera that sits on the phototube connected to the compound microscope head. The optical axis passes through a green fluorescent protein (GFP) filter cube and is aligned with a position, at which the bock holder arm comes to rest after each section...
July 7, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28705424/post-implantation-development-reveals-that-biopsy-procedure-can-segregate-healthy-from-unhealthy-bovine-embryos-and-prevent-miscarriages
#19
Clara Slade Oliveira, Carolina Capobiango Romano Quintão, Celio de Freitas, Agostinho Jorge Dos Reis Camargo, Raquel Varella Serapião, Luiz Sérgio de Almeida Camargo
Embryo biopsy has been performed in bovine in vivo produced embryos for the last twenty years, but little could be done with few embryonic cells in the past. Recently, advances in single cell analysis enabled a wide range of applications using embryo biopsy, from morphology to genetics analysis and different omics-techniques, which are promising for in vitro-fertilized (IVF) embryos. The aim of this study was to address if biopsy procedure would affect post implantation development of IVF blastocyts. Here we show that blastocyst stage do not affect re-expansion of biopsied embryos (regular blastocyst: 73...
June 29, 2017: Animal Reproduction Science
https://www.readbyqxmd.com/read/28687174/pre-implantation-hla-matching-the-production-of-a-saviour-child
#20
REVIEW
Georgia Kakourou, Christina Vrettou, Maria Moutafi, Joanne Traeger-Synodinos
Pre-implantation genetic diagnosis (PGD) requires the use of assisted reproductive technology (ART) to create several pre-implantation-stage embryos, followed by biopsy of embryonic cells for genetic testing and transfer of selected embryos to the womb to establish a pregnancy. HLA typing of ART-created embryos was first reported in 2001. The aim is to establish a pregnancy that is HLA-compatible with an affected sibling who requires haematopoietic stem cell transplantation. HLA-typing can be performed with or without PGD for the exclusion of a single-gene disorder...
June 16, 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
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