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Preimplantation genetic

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https://www.readbyqxmd.com/read/28639180/initial-maternal-serum-human-chorionic-gonadotropin-levels-in-pregnancies-achieved-after-assisted-reproductive-technology-are-higher-after-preimplantation-genetic-screening-and-after-frozen-embryo-transfer-a-retrospective-cohort
#1
Elie Hobeika, Sonali Singh, Shaveta Malik, Eric S Knochenhauer, Michael L Traub
PURPOSE: Few published articles have compared initial hCG values across all different types of ART cycles, including cycles with fresh or frozen embryo transfer. No articles have compared initial hCG values in cycles utilizing preimplantation genetic screening (PGS). The purpose of this study is to compare initial hCG values after fresh embryo transfer, frozen embryo transfer, and after PGS. METHODS: This was a single-center retrospective cohort study at an academically affiliated private IVF center...
June 21, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28633287/genetic-diseases-and-aneuploidies-can-be-detected-with-a-single-blastocyst-biopsy-a-successful-clinical-approach
#2
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/28617148/outcomes-of-ivf-cycles-coupled-with-pgs-by-acgh-of-embryos-from-donor-and-autologous-oocytes-transferred-after-vitrification-to-women-of-advanced-maternal-age
#3
Elena M Fedorova, Svetlana A Shlykova, Ksenia V Shunkina, Olga G Zaitceva, Elena N Lapina, Taras V Yanchuk, Alla S Kalugina
It is well documented that aneuploidy rate in preimplantation embryos increases with the mother's age, and at the same time the number of oocytes diminishes. Consequently, for patients of advanced maternal age two options are available to overcome these limitations: use of oocytes from young donors, or use of own oocytes coupled with preimplantation genetic screening (PGS) for 24 chromosomes. However, it is not clear which strategy might be more effective. The aim of this retrospective study was to evaluate outcomes of IVF cycles coupled with transfer of vitrified embryos from donor or autologous oocytes, both with or without PGS...
June 15, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28614992/preimplantation-genetic-screening
#4
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
https://www.readbyqxmd.com/read/28610639/impact-of-the-ivf-laboratory-environment-on-human-preimplantation-embryo-phenotype
#5
D K Gardner, R L Kelley
The phenotype of the human embryo conceived through in vitro fertilization (IVF), that is its morphology, developmental kinetics, physiology and metabolism, can be affected by numerous components of the laboratory and embryo culture system (which comprise the laboratory environment). The culture media formulation is important in determining embryo phenotype, but this exists within a culture system that includes oxygen, temperature, pH and whether an embryo is cultured individually or in a group, all of which can influence embryo development...
June 14, 2017: Journal of Developmental Origins of Health and Disease
https://www.readbyqxmd.com/read/28609277/corino-de-andrade-disease-mechanisms-and-impact-on-reproduction
#6
REVIEW
Rita A Lopes, Teresa Coelho, Alberto Barros, Mário Sousa
Familial amyloid polyneuropathy was first described by Corino de Andrade in 1952 in Northern Portugal. It is a fatal autosomal dominant neurodegenerative disorder characterized by a progression of neurologic symptoms, beginning early in the reproductive life. The Transthyretin gene mutation originates a mutated protein that precipitates in the connective tissue as amyloid deposits. This disease is presently named Transthyretin-related hereditary amyloidosis. We performed an extensive review on this disease based on searches in Medical databases and in paper references...
June 1, 2017: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/28604975/-advance-in-the-methods-of-preimplantation-genetic-diagnosis-for-single-gene-diseases
#7
Yixin Ren, Jie Qiao, Liying Yan
More than 7000 single gene diseases have been identified and most of them lack effective treatment. As an early form of prenatal diagnosis, preimplantation genetic diagnosis (PGD) is a combination of in vitro fertilization and genetic diagnosis. PGD has been applied in clinics for more than 20 years to avoid the transmission of genetic defects through analysis of embryos at early stages of development. In this paper, a review for the recent advances in PGD for single gene diseases is provided.
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28603918/cftr-france-a-national-relational-patient-database-for-sharing-genetic-and-phenotypic-data-associated-with-rare-cftr-variants-a
#8
Mireille Claustres, Corinne Theze, Marie des Georges, David Baux, Emmanuelle Girodon, Thierry Bienvenu, Marie-Pierre Audrezet, Ingrid Dugueperoux, Claude Ferec, Guy Lalau, Adrien Pagin, Alain Kitzis, Vincent Thoreau, Véronique Gaston, Eric Bieth, Marie-Claire Malinge, Marie-Pierre Reboul, Patricia Fergelot, Lydie Lemonnier, Chadia Mekki, Pascale Fanen, Anne Bergougnoux, Souphatta Sasorith, Caroline Raynal, Corinne Bareil
Most of 2,000 variants identified in the CFTR (cystic fibrosis transmembrane regulator) gene are rare or private. Their interpretation is hampered by the lack of available data and resources, making patient care and genetic counseling challenging. We developed a patient-based database dedicated to the annotations of rare CFTR variants in the context of their cis- and trans-allelic combinations. Based on almost 30 years' experience of CFTR testing, CFTR-France (https://cftr.iurc.montp.inserm.fr/cftr) currently compiles 16,819 variant records from 4,615 individuals with cystic fibrosis (CF) or CFTR-RD (related disorders), fetuses with ultrasound bowel anomalies, newborns awaiting clinical diagnosis and asymptomatic compound heterozygotes...
June 12, 2017: Human Mutation
https://www.readbyqxmd.com/read/28594768/detection-of-an-inherited-deletion-in-products-of-conception-in-a-patient-with-recurrent-losses-and-normal-karyotype
#9
Jeffrey Thorne, Alicia Craffey, John C Nulsen
BACKGROUND: Microarray analysis testing on products of conception can provide valuable information in the evaluation of recurrent pregnancy loss beyond ploidy status. CASE: A maternally inherited deletion on the X chromosome was detected by microarray analysis performed on products of conception in a couple with recurrent pregnancy loss. The mother had a previously demonstrated normal karyotype with standard cytogenetic analysis but was subsequently determined to have the same X chromosome deletion by oligonucleotide single-nucleotide polymorphism (SNP) microarray analysis...
June 6, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28582519/x-chromosome-inactivation-in-human-pluripotent-stem-cells-as-a-model-for-human-development-back-to-the-drawing-board
#10
Mieke Geens, Susana M Chuva De Sousa Lopes
BACKGROUND: Human pluripotent stem cells (hPSC), both embryonic and induced (hESC and hiPSC), are regarded as a valuable in vitro model for early human development. In order to fulfil this promise, it is important that these cells mimic as closely as possible the in vivo molecular events, both at the genetic and epigenetic level. One of the most important epigenetic events during early human development is X chromosome inactivation (XCI), the transcriptional silencing of one of the two X chromosomes in female cells...
June 5, 2017: Human Reproduction Update
https://www.readbyqxmd.com/read/28579407/detailed-investigation-into-the-cytogenetic-constitution-and-pregnancy-outcome-of-replacing-mosaic-blastocysts-detected-with-the-use-of-high-resolution-next-generation-sequencing
#11
Santiago Munné, Joshua Blazek, Michael Large, Pedro A Martinez-Ortiz, Haley Nisson, Emmeline Liu, Nicoletta Tarozzi, Andrea Borini, Amie Becker, John Zhang, Susan Maxwell, James Grifo, Dhruti Babariya, Dagan Wells, Elpida Fragouli
OBJECTIVE: To determine the pregnancy outcome potential of mosaic embryos, detected by means of preimplantation genetic screening (PGS) with the use of next-generation sequencing (NGS). DESIGN: Retrospective study. SETTING: Genetics laboratories. PATIENT(S): PGS cycles during which either mosaic or euploid embryos were replaced. INTERVENTION(S): Blastocysts were biopsied and processed with the use of NGS, followed by frozen embryo transfer...
June 1, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28578020/pathogenicity-analysis-of-novel-variations-in-chinese-han-patients-with-polycystic-kidney-disease
#12
Zishui Fang, Shiyan Xu, Yonghua Wang, Liwei Sun, Yi Feng, Yibin Guo, Hongyi Li, Weiying Jiang
OBJECTIVE: Locus and allellic heterogeneity in polycystic kidney disease (PKD) is a great challenge in precision diagnosis. We aim to establish comprehensive methods to distinguish the pathogenic mutations from the variations in PKD1, PKD2 and PKHD1 genes in a limited time and lay the foundation for precisely prenatal diagnosis, preimplantation genetic diagnosis and presymptom diagnosis of PKD. METHODS: Nested PCR combined with direct DNA sequencing were used to screen variations in PKD1, PKD2 and PKHD1 genes...
May 31, 2017: Gene
https://www.readbyqxmd.com/read/28577924/forceful-patterning-in-mouse-preimplantation-embryos
#13
REVIEW
Ravikrishna Ramanujam, Tricia Yu Feng Low, Yen Wei Lim, Fumio Motegi
The generation of a functional organism from a single, fertilized ovum requires the spatially coordinated regulation of diverse cell identities. The establishment and precise arrangement of differentiated cells in developing embryos has, historically, been extensively studied by geneticists and developmental biologists. While chemical gradients and genetic regulatory networks are widely acknowledged to play significant roles in embryo patterning, recent studies have highlighted that mechanical forces generated by, and exerted on, embryos are also crucial for the proper control of cell differentiation and morphogenesis...
May 31, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28576301/obstetric-and-neonatal-outcomes-of-pregnancies-conceived-after-preimplantation-genetic-diagnosis-cohort-study-and-meta-analysis
#14
Joseph Hasson, Dana Limoni, Mira Malcov, Tsvia Frumkin, Hadar Amir, Tal Shavit, BjØrn Bay, Ariel Many, Benjamin Almog
Preimplantation genetic diagnosis (PGD) may pose risks to pregnancy outcome owing to the invasiveness of the biopsy procedure. This study compares outcome of singleton and twin clinical pregnancies conceived after fresh embryo transfers of PGD (n = 89) and matched intracytoplasmic sperm injection (ICSI) pregnancies (n = 166). The study was carried out in a single university affiliated centre. Because of the paucity of available data, a literature-based meta-analysis of studies comparing neonatal outcome of PGD and ICSI pregnancies was also conducted...
May 18, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28560610/association-between-growth-dynamics-morphological-parameters-the-chromosomal-status-of-the-blastocysts-and-clinical-outcomes-in-ivf-pgs-cycles-with-single-embryo-transfer
#15
Oleksii O Barash, Kristen A Ivani, Susan P Willman, Evan M Rosenbluth, Deborah S Wachs, Mary D Hinckley, Sara Pittenger Reid, Louis N Weckstein
PURPOSE: The purpose of the present study is to examine interconnection between speed of embryo development, the genetic status of the blastocysts, and clinical outcomes in IVF preimplantation genetic screening (PGS) cycles with single embryo transfer (SET). METHODS: The retrospective comparative study has been performed between January 2013 and January 2016. Seven hundred thirty-seven cycles of IVF treatment with PGS, followed by 503 SETs, were included in the study...
May 30, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28555358/complex-chromosomal-rearrangement-a-lesson-learned-from-pgs
#16
Tsvia Frumkin, Sagit Peleg, Veronica Gold, Adi Reches, Shiri Asaf, Foad Azem, Dalit Ben-Yosef, Mira Malcov
PURPOSE: The aim of the study is to report a case of non-diagnosed complex chromosomal rearrangement (CCR) identified by preimplantation genetic screening (PGS) followed by preimplantation genetic diagnosis (PGD) which resulted in a pregnancy and delivery of healthy offspring. METHODS: A 29-year-old woman and her spouse, both diagnosed previously with normal karyotypes, approached our IVF-PGD center following eight early spontaneous miscarriages. PGS using chromosomal microarray analysis (CMA) was performed on biopsied trophectoderm...
May 29, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28553146/recurrent-pregnancy-loss-current-perspectives
#17
REVIEW
Hady El Hachem, Vincent Crepaux, Pascale May-Panloup, Philippe Descamps, Guillaume Legendre, Pierre-Emmanuel Bouet
Recurrent pregnancy loss is an important reproductive health issue, affecting 2%-5% of couples. Common established causes include uterine anomalies, antiphospholipid syndrome, hormonal and metabolic disorders, and cytogenetic abnormalities. Other etiologies have been proposed but are still considered controversial, such as chronic endometritis, inherited thrombophilias, luteal phase deficiency, and high sperm DNA fragmentation levels. Over the years, evidence-based treatments such as surgical correction of uterine anomalies or aspirin and heparin for antiphospholipid syndrome have improved the outcomes for couples with recurrent pregnancy loss...
2017: International Journal of Women's Health
https://www.readbyqxmd.com/read/28548214/the-performance-of-malbac-and-mda-methods-in-the-identification-of-concurrent-mutations-and-aneuploidy-screening-to-diagnose-beta-thalassaemia-disorders-at-the-single-and-multiple-cell-levels
#18
WeiQiang Liu, HuiMin Zhang, Dan Hu, SiJia Lu, XiaoFang Sun
AIM: To select an optimal whole-genome amplification (WGA) method to improve the efficiency of the preimplantation genetic diagnosis and screening (PGD/PGS) of beta-thalassaemia disorders. METHODS: Fifty-seven fibroblast samples with defined beta-thalassaemia variations and forty-eight single-blastomere samples were amplified from single-, two-, and five-cell samples by multiple annealing and looping-based amplification cycles (MALBAC) and the multiple displacement amplification (MDA) method...
May 26, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28542635/frap-analysis-of-chromatin-looseness-in-mouse-zygotes-that-allows-full-term-development
#19
Masatoshi Ooga, Teruhiko Wakayama
Chromatin looseness, which can be analyzed by fluorescence recovery after photobleaching (FRAP) using eGFP-tagged core histone proteins, is an important index of the differentiation potential of blastomere cells and embryonic stem cells. Whether chromatin looseness is a reliable index of the developmental potential of embryos during ontogenesis is not known. As a necessary first step toward answering this question, we investigated whether FRAP-analyzed embryos are capable of normal preimplantation and full-term development...
2017: PloS One
https://www.readbyqxmd.com/read/28537237/-comparative-results-of-preimplantation-genetic-screening-by-array-comparative-genomic-hybridization-and-new-generation-sequencing
#20
N V Aleksandrova, E S Shubina, A N Ekimov, T A Kodyleva, I S Mukosey, N P Makarova, E V Kulakova, L A Levkov, I Yu Barkov, D Yu Trofimov, G T Sukhikh
Aneuploidies as quantitative chromosome abnormalities are a main cause of failed development of morphologically normal embryos, implantation failures, and early reproductive losses. Preimplantation genetic screening (PGS) allows a preselection of embryos with a normal karyotype, thus increasing the implantation rate and reducing the frequency of early pregnancy loss after IVF. Modern PGS technologies are based on a genome-wide analysis of the embryo. The first pilot study in Russia was performed to assess the possibility of using semiconductor new-generation sequencing (NGS) as a PGS method...
March 2017: Molekuliarnaia Biologiia
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