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Preimplantation genetic

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https://www.readbyqxmd.com/read/29649618/preimplantation-high-resolution-hla-sequencing-using-next-generation-sequencing
#1
Maryam Rafati, Mohammad Mahdi Akhondi, Mohammad Reza Sadeghi, Seyedeh Zahra Tara, Saeed Reza Ghaffari
Hematopoietic Stem Cell Transplantation (HSCT) is the only therapeutic option in a number of heritable hematologic disorders as well as hematologic cancers. Many parents and families fail to find an HLA-identical donor for their affected family member. In such cases, conceiving for a savior baby remains the only option especially in countries without access to national registries. By means of Next Generation Sequencing (NGS) techniques, in a single experiment on single cell products of IVF, a healthy HLA-identical embryo can be implanted in the uterus of a concerned mother...
April 9, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29627226/does-preimplantation-genetic-diagnosis-improve-reproductive-outcome-in-couples-with-recurrent-pregnancy-loss-owing-to-structural-chromosomal-rearrangement-a-systematic-review
#2
REVIEW
Mahmoud Iews, Justin Tan, Omur Taskin, Sukainah Alfaraj, Faten F AbdelHafez, Ahmed H Abdellah, Mohamed A Bedaiwy
Recurrent pregnancy loss (RPL) is a common, yet elusive, complication of pregnancy. Among couples at high risk of RPL, such as those carrying a structural chromosomal rearrangement, preimplantation genetic diagnosis (PGD) has been proposed as a tool to improve live birth rates and reduce the incidence of miscarriage; however, no clear consensus has been reached on its benefits in this population. This systematic review summarizes existing published research on the effect of PGD on pregnancy outcomes among carriers of chromosomal abnormalities with RPL...
March 15, 2018: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29622066/-preimplantation-genetic-diagnosis
#3
Hans Jakob Ingerslev, Birte Degn, Christina Hnida, Tue Diemer, Michael Bjørn Petersen, Tine Nørregaard Olesen, Henrik Krarup, Inge Søkilde Pedersen
In Denmark, preimplantation genetic diagnosis (PGD) is offered within the public healthcare to families with a known risk of an inherited disease in a child - as an alternative to prenatal diagnosis. It is a well-established technique with rather well-described perinatal- and neonatal outcomes, being comparable to what is seen following in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI). The most common strategy is now to perform trophectoderm biopsy and then vitrify, while the diagnostic test is performed...
April 2, 2018: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/29619224/sperm-aneuploidy-and-dna-fragmentation-in-unexplained-recurrent-pregnancy-loss-a-multicenter-case-control-study
#4
Camille Esquerré-Lamare, Marie Walschaerts, Lucie Chansel Debordeaux, Jessika Moreau, Florence Bretelle, François Isus, Gilles Karsenty, Laetitia Monteil, Jeanne Perrin, Aline Papaxanthos-Roche, Louis Bujan
Background: Recurrent pregnancy loss (RPL) is defined as the loss of at least three pregnancies in the first trimester. Although the most common cause is embryo aneuploidy, and despite female checkup and couple karyotyping, in about 50% of cases RPL remain unexplained. Male implication has little been investigated and results are discordant. In this context, we conducted a multi-center prospective case-control study to investigate male gamete implication in unexplained RPL. Methods: A total of 33 cases and 27 controls were included from three university hospitals...
2018: Basic and Clinical Andrology
https://www.readbyqxmd.com/read/29606500/preimplantation-genetic-diagnosis-counseling-in-autosomal-dominant-polycystic-kidney-disease
#5
Erin L Murphy, Madeline L Droher, Miriam S DiMaio, Neera K Dahl
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary forms of chronic kidney disease. Mutations within PKD1 or PKD2 lead to innumerable fluid-filled cysts in the kidneys and in some instances, end-stage renal disease (ESRD). Affected individuals have a 50% chance of passing the mutation to each of their offspring. Assisted reproductive technology using preimplantation genetic diagnosis (PGD) allows these individuals to reduce this risk to 1% to 2%. We assess the disease burden of 8 individuals with ADPKD who have undergone genetic testing in preparation for PGD...
March 30, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29606116/successful-production-of-genome-edited-rats-by-the-rgonad-method
#6
Tomoe Kobayashi, Masumi Namba, Takayuki Koyano, Masaki Fukushima, Masahiro Sato, Masato Ohtsuka, Makoto Matsuyama
BACKGROUND: Recent progress in development of the CRISPR/Cas9 system has been shown to be an efficient gene-editing technology in various organisms. We recently developed a novel method called Genome-editing via Oviductal Nucleic Acids Delivery (GONAD) in mice; a novel in vivo genome editing system that does not require ex vivo handling of embryos, and this technology is newly developed and renamed as "improved GONAD" (i-GONAD). However, this technology has been limited only to mice...
April 2, 2018: BMC Biotechnology
https://www.readbyqxmd.com/read/29605407/next-generation-sequencing-for-preimplantation-genetic-screening-improves-pregnancy-outcomes-compared-with-array-comparative-genomic-hybridization-in-single-thawed-euploid-embryo-transfer-cycles
#7
Jenna Friedenthal, Susan M Maxwell, Santiago Munné, Yael Kramer, David H McCulloh, Caroline McCaffrey, James A Grifo
OBJECTIVE: To evaluate whether the use of next generation sequencing (NGS) for preimplantation genetic screening (PGS) in single thawed euploid embryo transfer (STEET) cycles improves pregnancy outcomes compared with array comparative genomic hybridization (aCGH). DESIGN: Retrospective cohort study. SETTING: Single university-based fertility center. PATIENT(S): A total of 916 STEET cycles from January 2014 to December 2016 were identified...
March 28, 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29600549/phenotypes-genotypes-and-the-management-of-paroxysmal-movement-disorders
#8
REVIEW
Laura Silveira-Moriyama, Stjepana Kovac, Manju A Kurian, Henry Houlden, Andrew J Lees, Matthew C Walker, Emmanuel Roze, Alex R Paciorkowski, Jonathan W Mink, Thomas T Warner
As a consequence of the genomic revolution, a large number of publications describing paroxysmal movement disorders have been published in the last few years, shedding light on their molecular pathology. Routine gene testing is not necessary to guide treatment for typical forms of paroxysmal kinesigenic dyskinesia (PKD), paroxysmal nonkinesigenic dyskinesia (PNKD), and episodic ataxia type 1 or 2. It can, however, be helpful in the management of atypical or complex cases, especially for genetic counselling, treatment strategies, and the offer of preimplantation genetic diagnosis...
March 30, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29580110/current-and-future-molecular-approaches-in-the-diagnosis-of-cystic-fibrosis
#9
Anne Bergougnoux, Magali Taulan-Cadars, Mireille Claustres, Caroline Raynal
Cystic Fibrosis is among the first diseases to have general population genetic screening tests and one of the most common indications of prenatal and preimplantation genetic diagnosis for single gene disorders. During the past twenty years, thanks to the evolution of diagnostic techniques, our knowledge of CFTR genetics and pathophysiological mechanisms involved in cystic fibrosis has significantly improved. Areas covered: Sanger sequencing and quantitative methods greatly contributed to the identification of more than 2,000 sequence variations reported worldwide in the CFTR gene...
March 27, 2018: Expert Review of Respiratory Medicine
https://www.readbyqxmd.com/read/29566854/the-use-of-preimplantation-genetic-testing-for-aneuploidy-pgt-a-a-committee-opinion
#10
(no author information available yet)
The value of preimplantation genetic testing for aneuploidy (PGT-A) as a screening test for in vitro fertilization (IVF) patients has yet to be determined. Several studies demonstrate higher birth rates after aneuploidy testing and elective single-embryo transfer (eSET), suggesting the potential for this testing to decrease the risk of multiple gestations, though these studies have important limitations.
March 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29564832/time-lapse-imaging-for-the-detection-of-chromosomal-abnormalities-in-primate-preimplantation-embryos
#11
Brittany L Daughtry, Shawn L Chavez
The use of time-lapse microscopic imaging has proven to be a powerful tool for the study of mitotic divisions and other cellular processes across diverse species and cell types. Although time-lapse monitoring (TLM) of human preimplantation development was first introduced to the in vitro fertilization (IVF) community several decades ago, it was not until relatively recently that TLM systems were commercialized for clinical embryology purposes. Traditionally, human IVF embryos are assessed by successful progression and morphology under a stereomicroscope at distinct time points prior to selection for transfer...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29548835/prevention-of-leber-congenital-amaurosis-through-preimplantation-genetic-diagnosis
#12
Sylvia R Kodsi, Sara L Bristow, Joyce E Fox, Avner Hershlag
Preimplantation genetic diagnosis can allow a family with a hereditary genetic mutation to conceive a disease-free child. We report the first published case of a child born without Leber congenital amaurosis through preimplantation genetic testing to a couple who had a son with a homozygous mutation in the GUCY2D gene.
March 13, 2018: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/29547808/evaluation-of-preimplantation-genetic-testing-for-chromosomal-structural-rearrangement-by-a-commonly-used-next-generation-sequencing-workflow
#13
Judy F C Chow, William S B Yeung, Vivian C Y Lee, Estella Y L Lau, Ernest H Y Ng
OBJECTIVES: To evaluate the applicability of a commonly used next generation sequencing workflow in detecting unbalanced meiotic segregation products for reciprocal translocation and inversion carriers. STUDY DESIGN: All preimplantation genetic testing treatment cycles performed for reciprocal translocation or inversion carriers from 2012 to April 2017 were included. Three hundreds and forty-two archived whole genome amplified DNA, which had previously analyzed by array comparative genomic hybridization (aCGH), were retrospectively analyzed by next generation sequencing (NGS)...
March 9, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/29546326/a-rationale-for-biopsying-embryos-reaching-the-morula-stage-on-day-6-in-women-undergoing-preimplantation-genetic-testing-for-aneuploidy
#14
M Irani, N Zaninovic, C Canon, C O'Neill, V Gunnala, Q Zhan, G Palermo, D Reichman, Z Rosenwaks
STUDY QUESTION: Is there a benefit to assessing ploidy in delayed embryos reaching the morula stage on Day 6 of development? SUMMARY ANSWER: Day-6 morulae should be considered for biopsy in women <40 years old undergoing preimplantation genetic testing for aneuploidy (PGT-A) because they are associated with acceptable, albeit reduced, euploidy and implantation rates (IRs). WHAT IS KNOWN ALREADY: Embryo development and morphology have been shown to correlate with aneuploidy and pregnancy rates...
March 13, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29541197/successful-preimplantation-genetic-diagnosis-by-targeted-next-generation-sequencing-on-an-ion-torrent-personal-genome-machine-platform
#15
Yan Hao, Dawei Chen, Zhiguo Zhang, Ping Zhou, Yunxia Cao, Zhaolian Wei, Xiaofeng Xu, Beili Chen, Weiwei Zou, Mingrong Lv, Dongmei Ji, Xiaojin He
Hearing loss may place a heavy burden on the patient and patient's family. Given the high incidence of hearing loss among newborns and the huge cost of treatment and care (including cochlear implantation), prenatal diagnosis is strongly recommended. Termination of the fetus may be considered as an extreme outcome to the discovery of a potential deaf fetus, and therefore preimplantation genetic diagnosis has become an important option for avoiding the birth of affected children without facing the risk of abortion following prenatal diagnosis...
April 2018: Oncology Letters
https://www.readbyqxmd.com/read/29529983/selecting-for-disabilities-selection-versus-modification
#16
Joshua Shaw
This essay considers one argument used to defend parents who use preimplantation genetic diagnosis (PGD) to select for deafness and other disabilities. Some bioethicists have argued that a distinction should be drawn between genetically modifying embryos to possess disabilities and using PGD to select embryos that already present markers of them, and that the former is unethical because it inflicts avoidable harms onto the resulting children, whereas the latter is permissible because it allows children with potentially impaired abilities to exist...
April 2018: New Bioethics: a Multidisciplinary Journal of Biotechnology and the Body
https://www.readbyqxmd.com/read/29484972/a-novel-pathologic-variant-in-otof-in-an-iranian-family-segregating-hereditary-hearing-loss
#17
Mohammad Amin Tabatabaiefar, Mohammad Reza Pourreza, Parisa Tahmasebi, Nader Saki, Morteza Hashemzadeh Chaleshtori, Rasoul Salehi, Javad Mohammadi-Asl
Objective Hearing loss (HL) is the most common sensory-neural defect and the most heterogeneous trait in humans, with the involvement of >100 genes, which make a molecular diagnosis problematic. Next-generation sequencing (NGS) is a new strategy that can overcome this problem. Study Design Descriptive experimental study. Setting Diagnostic laboratory. Subjects and Methods A comprehensive family history was obtained, and clinical evaluations and pedigree analysis were performed in a family with multiple individuals with HL...
February 1, 2018: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/29479975/translocation-breakpoints-of-chromosome-3-in-male-carriers-a-report-of-twelve-cases-and-a-review-of-the-literature
#18
Hongguo Zhang, Ruixue Wang, Linlin Li, Haibo Zhu, Hao Zhang, Ruizhi Liu
Background/aim: This study aimed to explore the breakpoints in chromosome 3 translocation and the clinical features present in male carriers to enable informed genetic counseling of these patients. Materials and methods: A total of 5235 men who were infertile or receiving counseling for infertility were recruited. Cytogenetic analyses were performed using G-banding. A search for translocations on chromosome 3 involved in male infertility was performed using PubMed, Google Scholar, and CNKI. The relationships of translocation breakpoints with male infertility and recurrent pregnancy loss were also analyzed...
February 23, 2018: Turkish Journal of Medical Sciences
https://www.readbyqxmd.com/read/29477171/our-first-choice-cellular-and-genetic-underpinnings-of-trophectoderm-identity-and-differentiation-in-the-mammalian-embryo
#19
Sergio Menchero, Julio Sainz de Aja, Miguel Manzanares
The trophectoderm (TE) is the first cell population to appear in the mammalian preimplantation embryo, as the result of the differentiation of totipotent blastomeres located on the outer surface of the late morula. Trophectodermal cells arrange in a monolayer covering the expanding blastocyst and acquire an epithelial phenotype with distinct apicobasal polarity and a basal lamina placed toward the blastocyst interior. During later development through the periimplantation and gastrulation stages, the TE gives rise to extraembryonic membranes and cell types that will eventually form most of the fetal placenta, the specialized organ through which the embryo obtains maternal nourishment necessary for subsequent exponential growth...
2018: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/29471960/overview-of-autosomal-dominant-polycystic-kidney-disease-in-the-south-of-spain
#20
Ana Isabel Morales García, Margarita Martínez Atienza, María García Valverde, Juan Fontes Jimenez, Antonio Martínez Morcillo, M Angustias Esteban de la Rosa, Pablo de Diego Fernández, Miguel García González, Rafael Fernández Castillo, Irene Argüelles Toledo, Juan Antonio Bravo Soto, Rafael Esteban de la Rosa
INTRODUCTION: Although autosomal dominant polycystic kidney disease is the most common hereditary kidney disease, available data tend to be limited to after initiation of renal replacement therapy. OBJECTIVE: To ascertain an overview of autosomal dominant polycystic kidney disease within the health area of Granada in southern Spain. MATERIAL AND METHODS: From January 2007 to December 2016, we collected clinical, family and demographic information about all patients with autosomal dominant polycystic kidney disease, irrespective of whether or not they were treated with RRT, in the Granada health area...
March 2018: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
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