Polar Body Biopsy – Advantages of the Eppendorf Micromanipulation System
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Background Document on Preimplantation and Prenatal Genetic Testing
DH-BIO/INF (2015) 6 Background document on preimplantation and prenatal genetic testing Clinical Situation Legal situation1 1 Part II of this document presents the legal situation in Council of Europe member states and will be regularly updated (last update 7 May 2015). The updated text is highlighted in green. TABLE OF CONTENTS Introduction ............................................................................................................... 3 Part I. Preimplantation (PGD) and Prenatal (PND) Genetic Diagnosis. Clinical practice, Trends and Technological Developments ................................................... 4 1. Genetic diseases .............................................................................................. 4 1.1 Monogenic diseases ......................................................................................... 4 1.2 Polygenic diseases or multifactorial diseases ................................................... 5 1.3 Chromosomal diseases .................................................................................... 5 2. Preimplantation genetic diagnosis on embryonic cells ...................................... 5 2.1 General description of the procedure ................................................................ 5 2.2 PGD uses ......................................................................................................... 6 2.2.1 Main uses of PGD for medical indications ......................................................... 6 2.2.2 Use of PGD for the benefit of the health -
Oocyte Polarity: a Sign of Oocyte Quality?
Biology of Reproduction Unit Oocyte polarity: a sign of oocyte quality? Carlos E. Plancha1,2 1 Unidade de Biologia da Reprodução, Inst. Histologia e Biologia do Desenvolvimento, . Faculdade de Medicina de Lisboa, Portugal 2 CEMEARE – Centro Médico de Assistência à Reprodução, Lisboa, Portugal 7th ESHRE Campus on Mammalian Folliculogenesis and Oogenesis Stresa, Italy 19-21 April, 2012 DISCLOSURE CE Plancha does not have any commercial and/or financial relationship with manufacturers of pharmaceuticals, laboratory supplies and/or medical devices. 7th ESHRE Campus on Mammalian Folliculogenesis and Oogenesis Stresa, Italy 19-21 April, 2012 Presentation outline 1. Oocyte quality: impact, acquisition and approaches 2. Oocyte polarity: a feature of oocyte maturation 3. Oocyte polarity: a reflection of oocyte quality? 4. Future challenges 7th ESHRE Campus on Mammalian Folliculogenesis and Oogenesis Stresa, Italy 19-21 April, 2012 Presentation outline 1. Oocyte quality: impact, acquisition and approaches 2. Oocyte polarity: a feature of oocyte maturation 3. Oocyte polarity: a reflection of oocyte quality? 4. Future challenges 7th ESHRE Campus on Mammalian Folliculogenesis and Oogenesis Stresa, Italy 19-21 April, 2012 Oocyte Quality: a major determinant of Embryo Quality and Reproductive Success % Transfers that resulted in Live Births for ART Cycles using Fresh Embryos, from Own and Donor Eggs, by Woman’s Age Oocyte Quality is an oocyte 2008 Assisted Reproductive Technology Report attribute of major relevance in the Centers for Disease Control -
Preimplantation Genetic Testing for Aneuploidy (PGT-A): the Biology, the Technology and the Clinical Outcomes
Aust N Z J Obstet Gynaecol 2019; 1–8 DOI: 10.1111/ajo.12960 OPINION Preimplantation genetic testing for aneuploidy (PGT-A): The biology, the technology and the clinical outcomes Hayden Anthony Homer1,2,3 1Christopher Chen Oocyte Biology Research Laboratory, UQ Centre Preimplantation genetic testing for aneuploidy (PGT-A) seeks to identify preim- for Clinical Research, The University plantation embryos with a normal chromosome complement (euploid) during in of Queensland, Brisbane, Queensland, Australia vitro fertilisation (IVF). By sifting out embryos with abnormal chromosome num- 2Reproductive Endocrinology and bers (aneuploid), PGT-A should theoretically improve pregnancy success. Infertility Clinic, Royal Brisbane However, earlier versions of PGT-A were ineffective, and in some cases, detri- & Women's Hospital, Brisbane, Queensland, Australia mental, due to biopsy-induced trauma and because the technology at the time 3Queensland Fertility Group, Brisbane, could analyse only a fraction of all chromosomes. More recently, the emergence Queensland, Australia of technologies enabling all chromosomes to be analysed and a switch to less Correspondence: Professor Hayden traumatic blastocyst-stage biopsy have seen widespread uptake of PGT-A. Anthony Homer, Christopher Chen Assessing the full impact of blastocyst biopsy PGT-A requires consideration of Oocyte Biology Research Laboratory, UQ Centre for Clinical Research, The multiple factors, including embryonic mosaicism, sensitivity of the technological University of Queensland, Building platform used, embryo loss during long-term in vitro culture, embryo cryo- 71/918, Royal Brisbane & Women's Hospital Campus, Herston, QLD 4029, preservation and inter-clinic variability in expertise. Significantly, there hasn‘t Australia. yet been an appropriately designed randomised controlled trial (RCT) of blasto- Email: [email protected] cyst biopsy PGT-A analysed by intention-to- treat that accounts for all these pa- Conflicts of Interest: The author report no conflicts of interest. -
New Advances of Preimplantation and Prenatal Genetic Screening and Noninvasive Testing As a Potential Predictor of Health Status of Babies
Hindawi Publishing Corporation BioMed Research International Volume 2014, Article ID 306505, 8 pages http://dx.doi.org/10.1155/2014/306505 Review Article New Advances of Preimplantation and Prenatal Genetic Screening and Noninvasive Testing as a Potential Predictor of Health Status of Babies Tanya Milachich SAGBAL Dr. Shterev, IVF Unit, Hristo Blagoev 25-31, 1330 Sofia, Bulgaria Correspondence should be addressed to Tanya Milachich; tanya [email protected] Received 24 December 2013; Revised 13 February 2014; Accepted 15 February 2014; Published 24 March 2014 Academic Editor: Irma Virant-Klun Copyright © 2014 Tanya Milachich. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The current morphologically based selection of human embryos for transfer cannot detect chromosome aneuploidies. So far, only biopsy techniques have been able to screen for chromosomal aneuploidies in the in vitro fertilization (IVF) embryos. Preimplantation genetic diagnosis (PGD) or screening (PGS) involves the biopsy of oocyte polar bodies or embryonic cells and has become a routine clinical procedure in many IVF clinics worldwide, including recent development of comprehensive chromosome screening of all 23 pairs of chromosomes by microarrays for aneuploidy screening. The routine preimplantation and prenatal genetic diagnosis (PND) require testing in an aggressive manner. These procedures may be invasive to the growing embryo and fetus and potentially could compromise the clinical outcome. Therefore the aim of this review is to summarize not only the new knowledge on preimplantation and prenatal genetic diagnosis in humans, but also on the development of potential noninvasive embryo and fetal testing that might play an important role in the future. -
Live Births After Polar Body Biopsy and Frozen-Thawed Cleavage Stage Embryo Transfer: Case Report
JBRA Assisted Reproduction 2016;20(4):253-256 doi: 10.5935/1518-0557.20160049 Case Report Live births after polar body biopsy and frozen-thawed cleavage stage embryo transfer: case report Fernando Guimarães1, Matheus Roque1,2, Marcello Valle1, Alessandra Kostolias1, Rodrigo A de Azevedo1, Ciro D Martinhago3, Marcos Sampaio4, Selmo Geber2,4 1ORIGEN – Center for Reproductive Medicine, Rio de Janeiro/RJ - Brazil 2UFMG – Universidade Federal de Minas Gerais, Belo Horizonte/MG - Brazil 3Chromosome Genomic Medicine, São Paulo/SP - Brazil 4ORIGEN – Center for Reproductive Medicine, Belo Horizonte/MG - Brazil ABSTRACT 2002). To perform the biopsy, it is important to cause a Pre-implantation genetic diagnosis (PGD) or screening disruption of the zona pellucida of the oocyte or embryo (PGS) technology, has emerged and developed in the past occurs, which can be performed mechanically, chemically few years, benefiting couples as it allows the selection and or using laser (Brezina et al., 2012). The key point of PGD/ transfer of healthy embryos during IVF treatments. These PGS is to have access to the genetic material to be evalu- techniques can be performed in oocytes (polar-body biop- ated, without compromising the material analyzed and the sy) or embryos (blastomere or trophectoderm biopsy). In quality of the oocyte/embryo (Xu & Montag, 2012). this case report, we describe the first two live births to be Polar body (PB) biopsy was introduced in 1990 (Ver- published in Brazil after a polar-body (PB) biopsy. In case linsky et al., 1990), and it is associated with a less inva- 1, a 42-year-old was submitted to PB biopsy with PGS due sive technique, presenting advantages, because it main- to advanced maternal age and poor ovarian reserve. -
Preimplantation Genetic Diagnosis
REVIEW Review Preimplantation genetic diagnosis Karen Sermon, André Van Steirteghem, Inge Liebaers Preimplantation genetic diagnosis (PGD) was introduced at the beginning of the 1990s as an alternative to prenatal diagnosis, to prevent termination of pregnancy in couples with a high risk for offspring affected by a sex-linked genetic disease. At that time, embryos obtained in vitro were tested to ascertain their sex, and only female embryos were transferred. Since then, techniques for genetic analysis at the single-cell level, involving assessment of first and second polar bodies from oocytes or blastomeres from cleavage-stage embryos, have evolved. Fluorescence in-situ hybridisation (FISH) has been introduced for the analysis of chromosomes and PCR for the analysis of genes in cases of monogenic diseases. In-vitro culture of embryos has also improved through the use of sequential media. Here, we provide an overview of indications for, and techniques used in, PGD, and discuss results obtained with the technique and outcomes of pregnancies. A brief review of new technologies is also included. Preimplantation genetic diagnosis (PGD) is an early form of described; fluorescence in-situ hybridisation (FISH) has prenatal diagnosis, in which embryos created in vitro are since replaced PCR as a reliable method for the sexing of analysed for well-defined genetic defects; only those free of embryos,7,8 and has been widely used for PGD-AS and for the defects are replaced into the womb.1 The technique is detection of imbalanced forms of chromosomal used mainly in two broad indication groups. The first group aberrations.2,9,10 are individuals at high risk of having a child with a genetic Here, we discuss methods used for diagnosis of genetic disease—eg, carriers of a monogenic disease or of diseases, indications for PGD and PGD-AS, results chromosomal structural aberrations, such as transloca- obtained with the techniques, and subsequent outcomes tions—who have repeatedly opted to terminate their of pregnancies. -
Proctor Booklet
3.11 C: Meiosis Quiz PROCTOR VERSION 1. Which diagram best illustrates the processes of DNA replication, meiosis, and separation of sister chromatids? (A) Distractor Rationale: This answer suggests the student may understand that meiosis involves the splitting of homologous chromosomes, but does not understand that the first step in this process is the replication of all chromosomes to create a pair of two chromatids attached by a centromere (the X-shaped structures), and that the last step is the separation of sister chromatids in meiosis II to create four daughter cells, each containing a long chromosome and a short chromosome. (B) Distractor Rationale: This answer suggests the student may understand that meiosis involves the replication of all chromosomes and the pairing up and separation of homologous chromosomes, but does not understand that the final step in this process is the separation of sister chromatids in meiosis II to produce four haploid daughter cells, each with the haploid number of chromosomes. (C) Page 1 of 8 3.11 C: Meiosis Quiz PROCTOR VERSION Distractor Rationale: This answer suggests the student may understand that meiosis involves the replication of all chromosomes and the separation of sister chromatids, but does not realize that the first division involves the pairing up and separation of homologous chromosomes, and that this is then followed by a second division that produces four daughter cells, each with the haploid number of chromosomes. (D) Rationale: This answer suggests the student understands that the representation accurately depicts how the process of meiosis produces four haploid cells from one diploid parent cell: the formation of chromosomes, formation of the spindle complex, pairing of homologs, lining up of homologs on the equator, migration of chromosomes, and two divisions. -
A Review of the Human Oocyte and ICSI Practice
in vivo 30 : 387-400 (2016) Review Making ICSI Safer and More Effective: A Review of the Human Oocyte and ICSI Practice MARA SIMOPOULOU 1,2 , POLINA GIANNELOU 2, PANAGIOTIS BAKAS 2, LAERTIS GKOLES 2, THEODOROS KALAMPOKAS 2, KONSTANTINOS PANTOS 3 and MICHAEL KOUTSILIERIS 1 1Department of Physiology, Medical School, National and Kapodistrian University of Athens, Athens, Greece; 2Assisted Conception Unit, Second Department of Obstetrics and Gynecology, Aretaieion Hospital, Medical School, National and Kapodistrian University of Athens, Athens, Greece; 3Centre for Human Reproduction, Genesis Hospital, Athens, Greece Abstract. Intracytoplasmic sperm injection (ICSI) has separately. However, ICSI is a multifaceted procedure become an indispensable procedure of every assisted involving several consecutive steps and when evaluating one reproduction unit. This has created as much controversy as we cannot exclude the end effect of the previous, or the it has awe. As this is a multistep invasive technique, every overall effect of the different practitioners involved form part of the procedure has become subject to investigation. beginning to end. We contribute this review aspiring to offer the embryologist insight into all available approaches of securing an effective Recent global demographic surveys indicate that infertility ICSI practice. Herein we present all the different approaches remains an ongoing reproductive problem and is estimated with respect to handling of the human oocyte, taking into to affect as many as 186 million people worldwide (1) . The consideration the important steps of the technique such as assisted reproductive technology (ART) community is the oocyte positioning, timing of performing ICSI, the option committed to working towards not just a positive pregnancy of viewing the meiotic spindle and further individual action test but rather striving to secure excellent obstetric and such as artificial oocyte activation, rescue ICSI and in vitro perinatal outcomes. -
Analysis of Nine Chromosome Probes in First Polar Bodies and Metaphase II Oocytes for the Detection of Aneuploidies
European Journal of Human Genetics (2003) 11, 325–336 & 2003 Nature Publishing Group All rights reserved 1018-4813/03 $25.00 www.nature.com/ejhg ARTICLE Analysis of nine chromosome probes in first polar bodies and metaphase II oocytes for the detection of aneuploidies Aı¨da Pujol*,1, Irene Boiso2, Jordi Benet1, Anna Veiga2, Merce` Durban1, Mercedes Campillo3, Josep Egozcue1 and Joaquima Navarro1 1Departament de Biologia Cel.lular, Fisiologia i Immunologia, Unitat de Biologia, Facultat de Medicina, Universitat Auto`noma de Barcelona, E-08193 Bellaterra, Spain; 2Servei de Medicina de la Reproduccio´, Institut Universitari Dexeus, Pg. Bonanova 89-91, E-08017 Barcelona, Spain; 3Laboratori de Medicina Computacional, Unitat de Bioestadı´stica, Facultat de Medicina, Universitat Auto`noma de Barcelona, Spain We used fluorescent in situ hybridisation (FISH) to detect nine chromosomes (1, 13, 15, 16, 17, 18, 21, 22 and X) in 89 first Polar Bodies (1PBs), from in vitro matured oocytes discarded from IVF cycles. In 54 1PBs, we also analysed the corresponding oocyte in metaphase II (MII) to confirm the results; the other 35 1PBs were analysed alone as when preimplantation genetic diagnosis using 1PB (PGD-1PB) is performed. The frequency of aneuploid oocytes found was 47.5%; if the risk of aneuploidy for 23 chromosomes is estimated, the percentage rises to 57.2%. Missing chromosomes or chromatids found in 1PBs of 1PB/MII doublets were confirmed by MII results in 74.2%, indicating that only 25.8% of them were artefactual. Abnormalities observed in 1PBs were 55.8% whole-chromosome alterations and 44.2% chromatid anomalies. We observed a balanced predivision of chromatids for all chromosomes analysed. -
Regulation of Dynamic Events by Microfilaments During Oocyte Maturation and Fertilization
REPRODUCTIONREVIEW Regulation of dynamic events by microfilaments during oocyte maturation and fertilization Qing-Yuan Sun1,2 and Heide Schatten2 1State Key Laboratory of Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100080, China and 2Department of Veterinary Pathobiology, University of Missouri, Columbia, MO 65211, USA Correspondence should be addressed to H Schatten; Email: [email protected] Abstract Actin filaments (microfilaments) regulate various dynamic events during oocyte meiotic maturation and fertilization. In most species, microfilaments are not required for germinal vesicle breakdown and meiotic spindle formation, but they mediate per- ipheral nucleus (chromosome) migration, cortical spindle anchorage, homologous chromosome separation, cortex develop- ment/maintenance, polarity establishment, and first polar body emission during oocyte maturation. Peripheral cortical granule migration is controlled by microfilaments, while mitochondria movement is mediated by microtubules. During fertilization, microfilaments are involved in sperm incorporation, spindle rotation (mouse), cortical granule exocytosis, second polar body emission and cleavage ring formation, but are not required for pronuclear apposition (except for the mouse). Many of the events are driven by the dynamic interactions between myosin and actin filaments whose polymerization is regulated by RhoA, Cdc42, Arp2/3 and other signaling molecules. Studies have also shown that oocyte cortex organization and polarity formation mediated by -
Mitochondrial DNA Replacement Techniques to Prevent Human Mitochondrial Diseases
International Journal of Molecular Sciences Review Mitochondrial DNA Replacement Techniques to Prevent Human Mitochondrial Diseases Luis Sendra 1,2 , Alfredo García-Mares 2, María José Herrero 1,2,* and Salvador F. Aliño 1,2,3 1 Unidad de Farmacogenética, Instituto de Investigación Sanitaria La Fe, 46026 Valencia, Spain; [email protected] (L.S.); [email protected] (S.F.A.) 2 Departamento de Farmacología, Facultad de Medicina, Universidad de Valencia, 46010 Valencia, Spain; [email protected] 3 Unidad de Farmacología Clínica, Área del Medicamento, Hospital Universitario y Politécnico La Fe, 46026 Valencia, Spain * Correspondence: [email protected]; Tel.: +34-961-246-675 Abstract: Background: Mitochondrial DNA (mtDNA) diseases are a group of maternally inherited genetic disorders caused by a lack of energy production. Currently, mtDNA diseases have a poor prognosis and no known cure. The chance to have unaffected offspring with a genetic link is important for the affected families, and mitochondrial replacement techniques (MRTs) allow them to do so. MRTs consist of transferring the nuclear DNA from an oocyte with pathogenic mtDNA to an enucleated donor oocyte without pathogenic mtDNA. This paper aims to determine the efficacy, associated risks, and main ethical and legal issues related to MRTs. Methods: A bibliographic review was performed on the MEDLINE and Web of Science databases, along with searches for related clinical trials and news. Results: A total of 48 publications were included for review. Five MRT procedures were identified and their efficacy was compared. Three main risks associated with MRTs were discussed, and the ethical views and legal position of MRTs were reviewed. -
Incorporation of the Acrosome Into the Oocyte During Intracytoplasmic Sperm Injection Could Be Potentially Hazardous to Embryo Development
Incorporation of the acrosome into the oocyte during intracytoplasmic sperm injection could be potentially hazardous to embryo development Kazuto Morozumi and Ryuzo Yanagimachi* Institute for Biogenesis Research, University of Hawaii School of Medicine, Honolulu, HI 96822 Contributed by Ryuzo Yanagimachi, August 12, 2005 In mice and humans, a normal offspring can be obtained by the acrosome may have some effects on the development of injecting a single spermatozoon into an oocyte, the process called embryos. intracytoplasmic sperm injection (ICSI). When three or more mouse In this study, we investigated how mouse oocytes respond to spermatozoa with intact acrosomes were injected into individual injection of a single or multiple spermatozoa with or without their mouse oocytes, an increasing proportion of oocytes became de- acrosomes. The effects of the injection of hydrolyzing enzymes formed and lysed. Oocytes did not deform and lyse when acro- (trypsin and hyaluronidase) on oocytes and embryos were also some-less spermatozoa were injected, regardless of the number of examined. spermatozoa injected. Injection of more than four human sperma- tozoa into a mouse oocyte produced vacuole-like structures in each Materials and Methods oocyte. This vacuolation did not happen when spermatozoa were Reagents and Media. All inorganic and organic reagents were freed from acrosomes before injection. Hamsters, cattle, and pigs purchased from Sigma unless otherwise stated. The medium used have much larger acrosomes than the mouse or human. Injection for culturing oocytes after ICSI was bicarbonate-buffered Chatot, of a single acrosome-intact hamster, bovine, and porcine sperma- Ziomet and Bavister (CZB) medium supplemented with 5.56 mM tozoon deformed and lysed many or all mouse oocytes.