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Preimplantation genetic

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https://www.readbyqxmd.com/read/29229435/developmental-and-cytogenetic-assessments-of-preimplantation-embryos-derived-from-in-vivo-or-in-vitro-matured-human-oocytes
#1
Farzaneh Fesahat, Seyed Mehdi Kalantar, Mohammad Hasan Sheikhha, Hojjatollah Saeedi, Fatemeh Montazeri, Razieh Dehghani Firouzabadi, Mohammad Ali Khalili
Aneuploidy is of great relevance to embryo selection, as it represents one of the important causes of implantation failure. Furthermore, immature oocytes, retrieved during gonadotrophin-stimulated IVF cycles, are generally discarded in clinics; whereas, there was no detectable comprehensive evidence on higher rates of aneuploidy based on maturity status on the day of oocyte retrieval. As well, the correlation between embryo morphology on aneuploidy remains unclear. The aim was to evaluate the developmental and genetic integrity of human preimplantation embryos from rescue in-vitro matured MII stage oocytes as well as in vivo matured oocytes...
December 8, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29228115/the-oviduct-from-sperm-selection-to-the-epigenetic-landscape-of-the-embryo
#2
Serafín Pérez-Cerezales, Priscila Ramos-Ibeas, Omar Salvador Acuña, Manuel Avilés, Pilar Coy, Dimitrios Rizos, Alfonso Gutiérrez-Adán
The mammalian oviduct is the place where life begins as it is the site of fertilization and preimplantation embryo development. Recent research has highlighted the important role played by the oviduct both in sperm selection for natural fertilization and in the genetic and epigenetic reprogramming of pre-implantation embryo development. This review examines oviduct fluid composition with a special emphasis on exosomes and the role played by the oviduct in sperm selection, early embryo development, and in reshaping the epigenetic landscape of the embryo...
December 8, 2017: Biology of Reproduction
https://www.readbyqxmd.com/read/29224066/genome-wide-copy-number-alteration-detection-in-preimplantation-genetic-diagnosis
#3
Lieselot Deleye, Dieter De Coninck, Dieter Deforce, Filip Van Nieuwerburgh
Shallow whole genome sequencing has recently been introduced for genome-wide detection of chromosomal copy number alterations (CNAs) in preimplantation genetic diagnosis (PGD), using only 4-7 trophectoderm cells biopsied from day-5 embryos. This chapter describes the complete method, starting from whole genome amplification (WGA) on isolated blastomere(s), up to data analysis for CNA detection. The process is described generically and can also be used to perform CNA analysis on a limited number of cells (down to a single cell) in other applications...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29219278/clinical-features-of-carriers-of-reciprocal-chromosomal-translocations-involving-chromosome-2-report-of-nine-cases-and-review-of-the-literature
#4
Xinyue Zhang, Hongguo Zhang, Cong Hu, Ruixue Wang, Qi Xi, Ruizhi Liu
OBJECTIVE: To explore the clinical features of carriers of chromosome 2 translocations, enabling informed genetic counseling of these patients. MATERIALS AND METHODS: Eighty-two male carriers of a translocation who were infertile or receiving fertility counseling were recruited. Cytogenetic analyses were performed using G-banding. A search of PubMed was performed to determine whether the identified translocations on chromosome 2 are involved in male infertility...
December 11, 2017: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://www.readbyqxmd.com/read/29211946/a-rare-anos1-variant-in-siblings-with-kallmann-syndrome-identified-by-whole-exome-sequencing
#5
D M Lopategui, A J Griswold, H Arora, R I Clavijo, M Tekin, R Ramasamy
Kallmann syndrome is a rare genetic condition causing congenital hypogonadotropic hypogonadism. It presents with delayed puberty, anosmia, and infertility. Here, we set out to identify a causative DNA variant for Kallmann syndrome in two affected brothers of Hispanic ancestry. The male siblings presented with a clinical diagnosis of Kallmann syndrome (anosmia, delayed puberty, azoospermia, and undetectable luteinizing hormone and follicle stimulating hormone levels). Genetic variations were investigated by whole exome sequencing...
December 6, 2017: Andrology
https://www.readbyqxmd.com/read/29210259/preimplantation-genetic-diagnosis-the-situation-in-france-and-in-other-european-countries
#6
Anne-Marie Duguet, Bénédicte Boyer-Beviere
Preimplantation genetic diagnosis (PGD) relates exclusively to in vitro fertilisation techniques (IVF) that aim to prevent transmission of a serious genetic abnormality to the child. The genetic characteristics of the embryo created through IVF are analysed, and only the embryos free of the genetic abnormality are implanted in the womb. Performed worldwide since 1990, this technique has raised many legal and ethical debates due to the very wide variations of lawgiving between countries. This is shown by the report of the UNESCO IBC (2003), which described the techniques and the issues raised by preimplantation genetic diagnosis...
April 2017: European Journal of Health Law
https://www.readbyqxmd.com/read/29210255/the-legalisation-of-gamete-donation-in-italy
#7
Andrea Boggio
Since 2004, the regulation of assisted reproduction in Italy has undergone substantial reform as an effect of key judicial intervention. Limitations on embryo production, screening and transfer, the prohibition against engaging in preimplantation genetic diagnosis (PGD) and embryo selection, and the ban on gamete donation have all been removed by courts. In this article, I discuss how judicial intervention has improved the ability of Italian couples to access assisted reproduction technologies (ARTs), and how the expansion of reproductive rights is, however, still incomplete...
March 2017: European Journal of Health Law
https://www.readbyqxmd.com/read/29207007/fertility-preservation-in-women-harboring-deleterious-brca-mutations-ready-for-prime-time
#8
Fedro Alessandro Peccatori, Giorgia Mangili, Alice Bergamini, Francesca Filippi, Fabio Martinelli, Federica Ferrari, Stefania Noli, Emanuela Rabaiotti, Massimo Candiani, Edgardo Somigliana
Fertility issues have become critical in the management and counseling of BRCA mutation carriers. In this setting four points deserve consideration. (1) Women in general lose their ability to conceive at a mean age of 41 years, thus the suggested policy of prophylactic bilateral salpingo-oophorectomy at age 40 for BRCA mutation carriers does not affect the chances of natural pregnancy. Conversely, if the procedure is chosen at 35 years old, oocyte cryopreservation prior to surgery should be considered. (2) Some evidence suggests that ovarian reserve may actually be partly reduced in BRCA mutations carriers and that the mutation may affect ovarian responsiveness to stimulation...
December 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29203382/thirteen-years-experience-of-893-pgd-cycles-for-monogenic-disorders-in-a-publicly-funded-nationally-regulated-regional-hospital-service
#9
Anne Girardet, Aliya Ishmukhametova, Victoria Viart, Stéphanie Plaza, Florielle Saguet, Garance Verriere, Samir Hamamah, Isabelle Coupier, Emmanuelle Haquet, Tal Anahory, Marjolaine Willems, Mireille Claustres
This study provides an overview of preimplantation genetic diagnosis (PGD) for single gene diseases and the management of expanding indications in the context of a fully financially covered service at Montpellier's regional hospital centre. Within the framework of a restrictive law ruling PGD in France, only the parental genetic risk can be studied in embryos (concurrent aneuploidy screening is not allowed). PCR-based techniques were developed combining mutation detection and closely linked short tandem repeat markers within or flanking the affected genes, and set up more than 100 different robust fluorescent multiplex assays for 61 monogenic disorders...
November 22, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29202974/embryo-aneuploidy-is-not-impacted-by-selective-serotonin-reuptake-inhibitor-exposure
#10
Carlos Hernandez-Nieto, Joseph Lee, Taraneh Nazem, Dmitry Gounko, Alan Copperman, Benjamin Sandler
OBJECTIVE: To study whether maternal exposure to selective serotonin reuptake inhibitors (SSRIs) has any influence on rates of blastocyst aneuploidy and/or in vitro fertilization (IVF) cycle outcomes. DESIGN: Retrospective cohort analysis. SETTING: Private and academic IVF center. PATIENT(S): Patients who underwent IVF with preimplantation genetic treatment with trophectoderm biopsy (n = 4,355 cycles) and patients who underwent a single-embryo transfer (SET) between January-2012 and June-2017 (n = 2,132 cycles)...
December 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/29199274/recent-developments-in-genetics-and-medically-assisted-reproduction-from-research-to-clinical-applications
#11
REVIEW
J C Harper, K Aittomäki, P Borry, M C Cornel, G de Wert, W Dondorp, J Geraedts, L Gianaroli, K Ketterson, I Liebaers, K Lundin, H Mertes, M Morris, G Pennings, K Sermon, C Spits, S Soini, A P A van Montfoort, A Veiga, J R Vermeesch, S Viville, M Macek
Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice. In September 2016, the expert panel met for the third time. The topics discussed highlighted important issues covering the impacts of expanded carrier screening, direct-to-consumer genetic testing, voiding of the presumed anonymity of gamete donors by advanced genetic testing, advances in the research of genetic causes underlying male and female infertility, utilisation of massively parallel sequencing in preimplantation genetic testing and non-invasive prenatal screening, mitochondrial replacement in human oocytes, and additionally, issues related to cross-generational epigenetic inheritance following IVF and germline genome editing...
December 4, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29187032/postmortem-diagnostic-exome-sequencing-identifies-a-de-novo-tubb3-alteration-in-a-newborn-with-prenatally-diagnosed-hydrocephalus-and-suspected-walker-warburg-syndrome
#12
Zöe Powis, Adam C Chamberlin, Christina L Alamillo, Sophia Ceulemans, Lynne M Bird, Sha Tang
Objective Herein, we report a case of a deceased newborn with prenatally detected hydrocephalus. Postnatal findings included abnormal brain imaging and electroencephalogram, optic nerve abnormalities, and elevated creatine kinase (CK). No underlying genetic etiology had been previously identified for the proband, despite testing with a congenital muscular dystrophy gene panel. Methods Diagnostic exome sequencing (DES) was performed on the proband-parents trio, and candidate alterations were confirmed using automated fluorescence dideoxy sequencing...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29180129/genetic-diagnosis-of-epidermolysis-bullosa-recommendations-from-an-expert-spanish-research-group
#13
C Sánchez-Jimeno, M J Escámez, C Ayuso, M J Trujillo-Tiebas, M Del Río
Epidermolysis bullosa (EB) is a rare genetic disease that causes mucocutaneous fragility. It comprises a clinically and genetically heterogeneous group of disorder characterized by spontaneous or contact/friction-induced blistering. EB is classified into 4 types-simplex, junctional, dystrophic, and Kindler syndrome-and 30 subtypes. The disease is caused by defects in proteins implicated in dermal-epidermal adhesion. At least 19 genes have been characterized and more than 1000 mutations identified, thus rendering diagnosis complex...
November 24, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/29171892/parenting-in-the-age-of-preimplantation-gene-editing
#14
Sigal Klipstein
Medical science at its core aims to preserve health and eliminate disease, but a common theme in scientific discovery is the application of findings in ways that were not the primary intent. The development of diagnostic modalities to predict the health of resulting children has been a fundamental aim underpinning research into prenatal and preimplantation diagnostic modalities; however, the knowledge gained has in some cases been utilized for nonmedical purposes. As an example, amniocentesis developed to determine whether the pregnancy is chromosomally normal also provides information about the sex of the fetus, which normally does not affect health...
December 2017: Hastings Center Report
https://www.readbyqxmd.com/read/29170163/micrornas-tiny-molecules-with-significant-role-in-mammalian-follicular-and-oocyte-development
#15
Dawit Tesfaye, Samuel Gebremedhn, Dessie Salilew-Wondim, Tsige Hailay, Michael Hoelker, Christine Grosse-Brinkhaus, Karl Schellander
The genetic regulation of female fertility (follicular development, oocyte maturation, and early preimplantation embryo development) involves the spatio-temporal regulation of those genes that play key roles in various stages of the female reproductive axis. MicroRNAs (miRNAs), a class of small non-coding RNA, are known to regulate the expression of a large proportion of such genes. In recent decades, multiple studies have aimed to determine the roles of these non-coding RNAs in mammalian follicular development, oocyte growth, and embryo development...
November 23, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/29165686/optimal-timing-for-blastomere-biopsy-of-8-cell-embryos-for-preimplantation-genetic-diagnosis
#16
Y Kalma, L Bar-El, S Asaf-Tisser, M Malcov, A Reches, J Hasson, H Amir, F Azem, D Ben-Yosef
STUDY QUESTION: What is the optimal timing for blastomere biopsy during the 8-cell stage, at which embryos will have the best implantation potential? SUMMARY ANSWER: Fast-cleaving embryos that are biopsied during the last quarter (Q4) of the 8-cell stage and are less affected by the biopsy procedure, and their implantation potential is better than that of embryos biopsied earlier during the 8-cell stage (Q1-Q3). WHAT IS KNOWN ALREADY: Blastomer biopsy from cleavage-stage embryos is usually performed on the morning of Day 3 when the embryos are at the 6- to 8-cell stage and is still the preferred biopsy method for preimplantation genetic diagnosis (PGD) for monogentic disorders or chromosomal translocations...
November 20, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29164644/should-embryos-with-autosomal-monosomy-by-preimplantation-genetic-testing-for-aneuploidy-be-transferred-implications-for-embryo-selection-from-a-systematic-literature-review-of-autosomal-monosomy-survivors
#17
REVIEW
M E Bunnell, L Wilkins-Haug, R Reiss
OBJECTIVE: To review the literature for survival and phenotypes of liveborns with autosomal monosomy to inform decisions regarding transfer of IVF-derived embryos reported as monosomic on preimplantation genetic testing for aneuploidy (PGT-A). METHOD: Ovid-Medline and EMBASE were systematically searched to identify published case reports of live-born individuals with autosomal monosomy, full or mosaic, for a whole chromosome. RESULTS: Fifty-three reports describing 56 individuals with autosomal monosomy met the selection criteria: one case each of monosomy 14 and 16, three each for monosomy 15 and 18, one for group "E", five for monosomy 20, twenty-four for monosomy 21, seven for monosomy 22, and eleven for a "G" group chromosome...
November 21, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29141509/relative-morphokinetics-assessed-by-time-lapse-imaging-are-altered-in-embryos-from-patients-with-endometriosis
#18
Alexander Freis, Jens Erik Dietrich, Moritz Binder, Verena Holschbach, Thomas Strowitzki, Ariane Germeyer
INTRODUCTION: Time-lapse technology allows almost continuous noninvasive assessment of embryonic development. It was shown previously that relative kinetics defining cleavage synchronicity are better predictors of blastocyst quality than absolute time points. This study aims to compare relative kinetics in embryos from patients with and without endometriosis. METHODS: Time-lapse data were collected retrospectively from 596 patients undergoing infertility treatment for in vitro fertilization from January 2011 to July 2016...
January 1, 2017: Reproductive Sciences
https://www.readbyqxmd.com/read/29129123/opinions-of-nurses-regarding-conscientious-objection
#19
Rafael Toro-Flores, Pilar Bravo-Agüi, María Victoria Catalán-Gómez, Marisa González-Hernando, María Jesús Guijarro-Cenisergue, Margarita Moreno-Vázquez, Isabel Roch-Hamelin, Tamara Raquel Velasco-Sanz
BACKGROUND: In the last decades, there have been important developments in the scientific and technological areas of healthcare. On certain occasions this provokes conflict between the patients' rights and the values of healthcare professionals which brings about, within this clinical relationship, the problem of conscientious objection. AIMS: To learn the opinions that the Nurses of the Madrid Autonomous Community have regarding conscientious objection. RESEARCH DESIGN: Cross-cutting descriptive study...
January 1, 2017: Nursing Ethics
https://www.readbyqxmd.com/read/29126206/the-incidence-and-origin-of-segmental-aneuploidy-in-human-oocytes-and-preimplantation-embryos
#20
D Babariya, E Fragouli, S Alfarawati, K Spath, D Wells
STUDY QUESTION: What is the incidence, origin and clinical significance of segmental aneuploidy in human oocytes and preimplantation embryos? SUMMARY ANSWER: Segmental aneuploidy occurs at a considerable frequency in preimplantation embryos with a majority being mitotic in origin. WHAT IS KNOWN ALREADY: In recent years, accurate techniques for the detection of aneuploidy in single cells have been developed. Research using such methods has confirmed that aneuploidy is a common feature of human oocytes and preimplantation embryos...
December 1, 2017: Human Reproduction
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