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Embryo biopsy

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https://www.readbyqxmd.com/read/28815718/a-potential-high-risk-for-fatty-liver-disease-was-found-in-mice-generated-after-assisted-reproductive-techniques
#1
Gu Ll, Zhang Jj, Zheng Mm, Dong Gy, Xu Jy, Zhang Wy, Yibo Wu, Yang Yang, Zhu H
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
https://www.readbyqxmd.com/read/28682646/embryo-pooling-a-promising-strategy-for-managing-insufficient-number-of-embryos-in-preimplantation-genetic-diagnosis
#11
Xiaokun Hu, Chenhui Ding, Duoduo Zhang, Wen Zhou, Jing Wang, Yanhong Zeng, Jie Lv, Yan-Wen Xu, Can-Quan Zhou
This retrospective study evaluated the embryo pooling strategy for managing insufficient number of embryos in preimplantation genetic diagnosis (PGD) through serial vitrification of cleavage-stage embryos from consecutive cycles, and simultaneous blastocysts biopsy in combination with blastocysts obtained in ultimate fresh cycle. A retrospective analysis of the cumulative pregnancy rate of 68 patients underwent cleavage-stage embryos accumulation (Embryo Pooling Group) and 94 patients underwent one stimulation cycle (Control Group) over a 2-year period were conducted...
July 6, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28676910/morphokinetic-parameters-from-a-time-lapse-monitoring-system-cannot-accurately-predict-the-ploidy-of-embryos
#12
Jingye Zhang, Wenrong Tao, Hui Liu, Guanling Yu, Mei Li, Shuiying Ma, Keliang Wu
PURPOSE: This study aimed to test whether there is an association between embryo morphokinetic parameters and ploidy status. METHODS: Patients with high risk of aneuploidy were analyzed by time-lapse microscopy combined with preimplantation genetic screening (PGS). Accordingly, 256 blastocysts from 75 patients were subjected to trophectoderm biopsy and microarray comparative genomic hybridization (array-CGH). Blastocyst development process was analyzed using time-lapse images...
July 4, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28668821/preimplantation-genetic-diagnosis-for-mitochondrial-dna-mutations-analysis-of-one-blastomere-suffices
#13
Suzanne C E H Sallevelt, Joseph C F M Dreesen, Edith Coonen, Aimee D C Paulussen, Debby M E I Hellebrekers, Christine E M de Die-Smulders, Hubert J M Smeets, Patrick Lindsey
BACKGROUND: Preimplantation genetic diagnosis (PGD) is a reproductive strategy for mitochondrial DNA (mtDNA) mutation carriers, strongly reducing their risk of affected offspring. Embryos either without the mutation or with mutation load below the phenotypic threshold are transferred to the uterus. Because of incidental heteroplasmy deviations in single blastomere and the relatively limited data available, we so far preferred relying on two blastomeres rather than one. Considering the negative effect of a two-blastomere biopsy protocol compared with a single-blastomere biopsy protocol on live birth delivery rate, we re-evaluated the error rate in our current dataset...
July 1, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28650953/de-novo-paternal-fbn1-mutation-detected-in-embryos-before-implantation
#14
Shuling Wang, Ziru Niu, Hui Wang, Minyue Ma, Wei Zhang, Shu Fang Wang, Jun Wang, Hong Yan, Yifan Liu, Na Duan, Xiandong Zhang, Yuanqing Yao
BACKGROUND Marfan syndrome (MFS) is an autosomal dominant disease caused by mutations in the Fibrillin (FBN)1 gene and characterized by disorders in the cardiovascular, skeletal, and visual systems. The diversity of mutations and phenotypic heterogeneity of MFS make prenatal molecular diagnoses difficult. In this study, we used pre-implantation genetic diagnosis (PGD) to identify the pathogenic mutation in a male patient with MFS and to determine whether his offspring would be free of the disease. MATERIAL AND METHODS The history and pedigree of the proband were analyzed...
June 26, 2017: Medical Science Monitor: International Medical Journal of Experimental and Clinical Research
https://www.readbyqxmd.com/read/28648921/karyomapping-a-single-centre-s-experience-from-application-of-methodology-to-ongoing-pregnancy-and-live-birth-rates
#15
Jara Ben-Nagi, Dagan Wells, Karen Doye, Kalliopi Loutradi, Holly Exeter, Emily Drew, Samer Alfarawati, Roy Naja, Paul Serhal
This study aimed to determine whether karyomapping can be applied to couples requiring preimplantation genetic diagnosis (PGD) for single gene disorder (SGD) and/or chromosomal rearrangement. 75/82 (91.5%) and 6/82 (7.3%) couples were referred for autosomal SGD and X-linked disease, respectively. One couple (1.2%) was referred for SGD and chromosomal rearrangement. Of 608 embryos, 146 (24%, 95% CI 21-28) day-3 and 462 (76%, 95% CI 72-79) blastocyst biopsies were performed. A total of 81 embryo transfers were performed; 16/81 (20%) were following day-3 embryo biopsy, 65/81 (80%) were following blastocyst biopsy and cryopreserved embryo transfer...
September 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28647786/mosaic-embryo-transfer-after-oocyte-in-vitro-maturation-in-combination-with-non-invasive-prenatal-testing-nipt-first-report-of-a-euploid%C3%A2-live-birth
#16
Naomi Inoue, Rosmary Lopez, Andrea Delgado, Denisse Nuñez, Jimmy Portella, Luis Noriega-Hoces, Luis Guzmán
PURPOSES: The purpose of this study is to describe a healthy life birth after a mosaic embryo transfer in oocyte in vitro maturation (IVM). METHODS: Patient received minimal stimulation, starting on day 3 after menstrual period. No hCG trigger was administered. Oocyte retrieval was performed and oocytes were matured for 30 h. After denuding, mature oocytes were inseminated by ICSI. Embryos were cultured until blastocyst stage and biopsied. RESULTS: One euploid embryo after array comprehensive genome hybridization (aCGH) was diagnostic...
June 24, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28647784/replacing-single-frozen-thawed-euploid-embryos-in-a-natural-cycle-in-ovulatory-women-may-increase-live-birth-rates-compared-to-medicated-cycles-in-anovulatory-women
#17
Alexis P Melnick, Robert Setton, Logan D Stone, Nigel Pereira, Kangpu Xu, Zev Rosenwaks, Steven D Spandorfer
PURPOSE: The goal of this study was to compare pregnancy outcomes between natural frozen embryo transfer (FET) cycles in ovulatory women and programmed FET cycles in anovulatory women after undergoing in vitro fertilization with preimplantation genetic screening (IVF-PGS). METHODS: This was a retrospective cohort study performed at an academic medical center. Patients undergoing single FET IVF-PGS cycles between October 2011 and December 2014 were included. Patients were stratified by type of endometrial replacement: programmed cycles with estrogen/progesterone replacement and natural cycles...
June 24, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28634372/dna-methylation-changes-in-endometrium-and-correlation-with-gene-expression-during-the-transition-from-pre-receptive-to-receptive-phase
#18
Viktorija Kukushkina, Vijayachitra Modhukur, Marina Suhorutšenko, Maire Peters, Reedik Mägi, Nilufer Rahmioglu, Agne Velthut-Meikas, Signe Altmäe, Francisco J Esteban, Jaak Vilo, Krina Zondervan, Andres Salumets, Triin Laisk-Podar
The inner uterine lining (endometrium) is a unique tissue going through remarkable changes each menstrual cycle. Endometrium has its characteristic DNA methylation profile, although not much is known about the endometrial methylome changes throughout the menstrual cycle. The impact of methylome changes on gene expression and thereby on the function of the tissue, including establishing receptivity to implanting embryo, is also unclear. Therefore, this study used genome-wide technologies to characterize the methylome and the correlation between DNA methylation and gene expression in endometrial biopsies collected from 17 healthy fertile-aged women from pre-receptive and receptive phase within one menstrual cycle...
June 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28633287/genetic-diseases-and-aneuploidies-can-be-detected-with-a-single-blastocyst-biopsy-a-successful-clinical-approach
#19
Maria Giulia Minasi, Francesco Fiorentino, Alessandra Ruberti, Anil Biricik, Elisabetta Cursio, Ettore Cotroneo, Maria Teresa Varricchio, Matteo Surdo, Francesca Spinella, Ermanno Greco
STUDY QUESTION: Can simultaneous detection of aneuploidies and genetic diseases or chromosomal aberrations in blastocysts reduce the chance of transferring embryos with low implantation potential, guaranteeing good clinical outcomes? SUMMARY ANSWER: The screening for chromosomal aneuploidies revealed that 50.6% of blastocysts diagnosed free of genetic disease or balanced, were aneuploid, therefore avoiding the transfer of blastocysts potentially resulting in implantation failures, miscarriages, or in some cases, in health affected live births...
June 12, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28614992/preimplantation-genetic-screening
#20
Joyce C Harper
Preimplantation genetic diagnosis was first successfully performed in 1989 as an alternative to prenatal diagnosis for couples at risk of transmitting a genetic or chromosomal abnormality, such as cystic fibrosis, to their child. From embryos generated in vitro, biopsied cells are genetically tested. From the mid-1990s, this technology has been employed as an embryo selection tool for patients undergoing in vitro fertilisation, screening as many chromosomes as possible, in the hope that selecting chromosomally normal embryos will lead to higher implantation and decreased miscarriage rates...
January 1, 2017: Journal of Medical Screening
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