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Preimplantation genetic

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https://www.readbyqxmd.com/read/29453426/importance-of-embryo-aneuploidy-screening-in-preimplantation-genetic-diagnosis-for-monogenic-diseases-using-the-karyomap-gene-chip
#1
Gang Li, Wenbin Niu, Haixia Jin, Jiawei Xu, Wenyan Song, Yihong Guo, Yingchun Su, Yingpu Sun
We investigated the incidence of aneuploidy in embryos from couples carrying monogenic diseases and the effect of embryo aneuploidy screening on the monogenic disease preimplantation genetic diagnosis (PGD). From November 2014 to April 2017, 36 couples carrying monogenic diseases were enrolled. The karyomap gene chip technique was used to analyze the blastocysts from the subjects and select normal embryos for transfer. A total of 43 single-gene PGD cycles were performed. A total of 687 eggs were obtained and 186 blastocysts were biopsed...
February 16, 2018: Scientific Reports
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/29440377/efficient-derivation-of-stable-primed-pluripotent-embryonic-stem-cells-from-bovine-blastocysts
#3
Yanina Soledad Bogliotti, Jun Wu, Marcela Vilarino, Daiji Okamura, Delia Alba Soto, Cuiqing Zhong, Masahiro Sakurai, Rafael Vilar Sampaio, Keiichiro Suzuki, Juan Carlos Izpisua Belmonte, Pablo Juan Ross
Embryonic stem cells (ESCs) are derived from the inner cell mass of preimplantation blastocysts. From agricultural and biomedical perspectives, the derivation of stable ESCs from domestic ungulates is important for genomic testing and selection, genome engineering, and modeling human diseases. Cattle are one of the most important domestic ungulates that are commonly used for food and bioreactors. To date, however, it remains a challenge to produce stable pluripotent bovine ESC lines. Employing a culture system containing fibroblast growth factor 2 and an inhibitor of the canonical Wnt-signaling pathway, we derived pluripotent bovine ESCs (bESCs) with stable morphology, transcriptome, karyotype, population-doubling time, pluripotency marker gene expression, and epigenetic features...
February 9, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29433970/an-evidence-based-scoring-system-for-prioritizing-mosaic-aneuploid-embryos-following-preimplantation-genetic-screening
#4
Francesca Romana Grati, Gloria Gallazzi, Lara Branca, Federico Maggi, Giuseppe Simoni, Yuval Yaron
The aim of this study was to devise an evidence-based scoring system for prioritizing mosaic aneuploid embryos for transfer. A retrospective analysis was performed of all sequential cytogenetic and molecular results on chorionic villi samples (n = 72,472) and products of conception (n = 3806) analysed at a single centre. The likelihood that a mosaic aneuploidy detected in chorionic villi samples will involve the fetus, the incidence of clinically significant fetal uniparental disomy in the presence of a mosaic in chorionic villi and the chance of the mosaicism culminating in miscarriage were used to generate a scoring system for prioritizing mosaic aneuploid embryos detected by preimplantation genetic screening...
February 9, 2018: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29428313/clinical-outcomes-in-carriers-of-complex-chromosomal-rearrangements-a-retrospective-analysis-of-comprehensive-chromosome-screening-results-in-seven-cases
#5
Liang Hu, Yajing Wei, Keli Luo, Pingyuan Xie, Fei Gong, Bo Xiong, Yueqiu Tan, Guangxiu Lu, Ge Lin
OBJECTIVE: To evaluate the clinical outcomes in carriers of complex chromosomal rearrangements (CCRs). DESIGN: Case series. SETTING: An institute for reproductive and stem cell engineering. PATIENT(S): Seven couples with CCRs. INTERVENTION(S): Assisted reproduction with preimplantation genetic diagnosis (PGD). MAIN OUTCOME MEASURE(S): PGD results, embryo rating, pregnancy outcomes...
February 7, 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29428306/cumulus-cell-transcriptome-profiling-is-not-predictive-of-live-birth-after-in%C3%A2-vitro-fertilization-a-paired-analysis-of-euploid-sibling-blastocysts
#6
Katherine A Green, Jason M Franasiak, Marie D Werner, Xin Tao, Jessica N Landis, Richard T Scott, Nathan R Treff
OBJECTIVE: To compare the transcriptome of cumulus cells associated with a euploid embryo that resulted in live birth with that of a sibling euploid embryo without sustained implantation. DESIGN: Paired analysis. SETTING: Academic institution. PATIENT(S): Couples undergoing IVF/intracytoplasmic sperm injection with preimplantation genetic screening with female age ≤42 years and normal ovarian reserve. INTERVENTION(S): Transcriptome profiling of cumulus cells from sibling oocytes for correlation with live birth after euploid blastocyst transfer...
February 7, 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29428279/preimplantation-genetic-screening-and-preimplantation-genetic-diagnosis
#7
REVIEW
Chantae Sullivan-Pyke, Anuja Dokras
Preimplantation genetic testing encompasses preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD). PGS improves success rates of in vitro fertilization by ensuring the transfer of euploid embryos that have a higher chance of implantation and resulting in a live birth. PGD enables the identification of embryos with specific disease-causing mutations and transfer of unaffected embryos. The development of whole genome amplification and genomic tools, including single nucleotide polymorphism microarrays, comparative genomic hybridization microarrays, and next-generation sequencing, has led to faster, more accurate diagnoses that translate to improved pregnancy and live birth rates...
March 2018: Obstetrics and Gynecology Clinics of North America
https://www.readbyqxmd.com/read/29416565/a-report-of-nine-cases-and-review-of-the-literature-of-infertile-men-carrying-balanced-translocations-involving-chromosome-5
#8
REVIEW
Hong-Guo Zhang, Rui-Xue Wang, Yuan Pan, Han Zhang, Lei-Lei Li, Hai-Bo Zhu, Rui-Zhi Liu
Background: Balanced translocations may cause the loss of genetic material at the breakpoints and may result in failure of spermatogenesis. However, carriers of reciprocal translocation may naturally conceive. Genetic counseling of male carriers of translocations remains challenging. This study explores the clinical features of carriers of chromosome 5 translocations, enabling informed genetic counseling of these patients. Results: Of 82 translocation carriers, 9 (11%) were carriers of a chromosome 5 translocation...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29398421/can-time-lapse-parameters-predict-embryo-ploidy-a-systematic-review
#9
REVIEW
Arnaud Reignier, Jenna Lammers, Paul Barriere, Thomas Freour
Embryo morphology assessment performs relatively poorly in predicting implantation. Embryo aneuploidy screening (PGS) has recently improved, but its clinical value is still debated, and the development of a cheap non-invasive method for the assessment of embryo ploidy status is a highly desirable goal. The growing implementation of time-lapse devices led some teams to test the effectiveness of morphokinetic parameters as predictors of embryo ploidy, with conflicting results. The aim of this study was to conduct a comprehensive review of the literature on the predictive value of morphokinetic parameters for embryo ploidy status...
February 1, 2018: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29383428/from-initial-description-by-wermer-to-present-day-men1-what-have-we-learned
#10
Nancy D Perrier
INTRODUCTION: Pancreas, parathyroid, and pituitary, are referred to as the "3 Ps" of MEN1. The time has come to move beyond those Ps and begin to discuss (1) prediction, (2) pausing progression, and (3) prevention of MEN1. METHODS: In preparation for the International Association of Endocrine Surgeons State of the Art address, updates and uncertainties of MEN were reviewed. This included a detailed examination of the MEN1 gene and the library of implicated mutations, exon sequencing databases and cell cycle pathways...
January 30, 2018: World Journal of Surgery
https://www.readbyqxmd.com/read/29380280/a-novel-male-2-4-14-complex-chromosomal-translocation-with-normal-semen-parameters-but-100-embryonic-aneuploidy
#11
Jade Mas, Reem Sabouni, Silvina Bocca
We report a case of a couple with a history of six spontaneous miscarriages in which a novel complex chromosomal rearrangement was detected in the male partner who had a totally normal semen analysis. Preimplantation genetic testing of their embryos demonstrated 100% aneuploidy.
January 29, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29378479/preimplantation-genetic-diagnosis-of-multiple-endocrine-neoplasia-type-2a-using-informative-markers-identified-by-targeted-sequencing
#12
Songchang Chen, Shuyuan Li, Junyu Zhang, Lanlan Zhang, Yiyao Chen, Li Wang, Li Jin, Yuting Hu, Xiao-Ping Qi, Hefeng Huang, Chenming Xu
BACKGROUND: The revised guidelines for the management of medullary thyroid carcinoma recommend that genetic counseling regarding reproductive options, including preimplantation genetic diagnosis (PGD), be considered for all RET mutation carriers of reproductive age to avoid the transmission of multiple endocrine neoplasia type 2 (MEN2). However, the high complexity and cost of PGD have hindered its widespread use. Thus, it is necessary to establish a simple and relatively inexpensive method to facilitate the PGD of MEN2...
January 29, 2018: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/29373990/targeted-next-generation-sequencing-analysis-in-couples-at-increased-risk-for-autosomal-recessive-disorders
#13
Katalin Komlosi, Stefan Diederich, Desiree Lucia Fend-Guella, Oliver Bartsch, Jennifer Winter, Ulrich Zechner, Michael Beck, Peter Meyer, Susann Schweiger
BACKGROUND: Many of the genetic childhood disorders leading to death in the pre- or neonatal period or during early childhood follow autosomal recessive modes of inheritance and bear specific challenges for genetic counseling and prenatal diagnostics. Parents are carriers but clinically unaffected, and diseases are rare but have recurrence risks of 25% in the same family. Often, affected children (or fetuses) die before a genetic diagnosis can be established, post-mortem analysis and phenotypic descriptions are insufficient and DNA from affected fetuses or children is not available for later analysis...
January 26, 2018: Orphanet Journal of Rare Diseases
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
#14
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/29372364/reproductive-decision-support-preferences-and-needs-of-couples-at-risk-for-hereditary-cancer-and-clinical-geneticists
#15
Kelly Reumkens, A J G van Oudheusden, J J G Gietel-Habets, M H E Tummers, C E M de Die-Smulders, L A D M van Osch
For couples at high risk of transmitting a cancer predisposition to offspring, reproductive decision-making can be challenging. As the choice between available reproductive options is preference-sensitive, the use of a decision aid can support these couples in their decisional process. The present study aims to investigate preferences and needs of involved stakeholders regarding the development and implementation of a patient decision aid. Semi-structured interviews assessing the needs and preferences regarding the content and functionalities of a decision support program were conducted among seven couples at risk for hereditary cancer and among eight clinical geneticists involved in oncogenetic counseling...
January 25, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29372155/pre-implantation-genetic-diagnosis-and-pre-implantation-genetic-screening-two-years-experience-at-a-single-center
#16
Se Yeon Won, Hannah Kim, Woo Sik Lee, Ji Won Kim, Sung Han Shim
Objective: Indications for preimplantation genetic diagnosis (PGD)/preimplantation genetic screening (PGS) cycles and clinical outcomes were evaluated at CHA Gangnam Medical Center. Methods: This is retrospective cohort study. All patients (n=336) who went through in vitro fertilization (IVF)-PGD/PGS cycles (n=486) between January 2014 and December 2015 were included in Fertility Center of CHA Gangnam Medical Center. Patients underwent IVF-PGD/PGS with 24-chromosome screening...
January 2018: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/29368589/expanded-carrier-screening-and-preimplantation-genetic-diagnosis-in-a-couple-who-delivered-a-baby-affected-with-congenital-factor-vii-deficiency
#17
Wen-Bin He, Yue-Qiu Tan, Xiao Hu, Wen Li, Bo Xiong, Ke-Li Luo, Fei Gong, Guang-Xiu Lu, Ge Lin, Juan Du
BACKGROUND: Preimplantation genetic diagnosis (PGD) is a powerful tool for preventing the transmission of Mendelian disorders from generation to generation. However, PGD only can identify monogenically inherited diseases, but not other potential monogenic pathologies. We aimed to use PGD to deliver a healthy baby without congenital FVII deficiency or other common Mendelian diseases in a couple in which both individuals carried a deleterious mutation in the F7 gene. METHODS: After both members of the couple were confirmed to be carriers of the F7 gene mutation by Sanger sequencing, expanded carrier screening (ECS) for 623 recessive inheritance diseases was performed to detect pathological mutations in other genes...
January 24, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29353449/blastulation-timing-is-associated-with-differential-mitochondrial-content-in-euploid-embryos
#18
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/29331235/antim%C3%A3-llerian-hormone-as-a-predictor-of-live-birth-following-assisted-reproduction-an-analysis-of-85-062-fresh-and-thawed-cycles-from-the-society-for-assisted-reproductive-technology-clinic-outcome-reporting-system-database-for-2012-2013
#19
Reshef Tal, David B Seifer, Ethan Wantman, Valerie Baker, Oded Tal
OBJECTIVE: To determine if serum antimüllerian hormone (AMH) is associated with and/or predictive of live birth assisted reproductive technology (ART) outcomes. DESIGN: Retrospective analysis of Society for Assisted Reproductive Technology Clinic Outcome Reporting System database from 2012 to 2013. SETTING: Not applicable. PATIENT(S): A total of 69,336 (81.8%) fresh and 15,458 (18.2%) frozen embryo transfer (FET) cycles with AMH values...
January 11, 2018: Fertility and Sterility
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
#20
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
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