Clinical Reproductive Science E-Book

• Herausgeber: John Wiley & Sons
• Kategorie: Fachliteratur
• Sprache: Englisch

Seitenzahl: 1102

Veröffentlichungsjahr: 2018

Beschreibung

The comprehensive and authoritative guide to clinical reproductive science

The field of clinical reproductive science continues to evolve; this important resource offers the basics of reproductive biology as well as the most recent advance in clinical embryology. The author - a noted expert in the field - focuses on the discipline and covers all aspects of this field. The text explores causes of male and female infertility and includes information on patient consultation and assessment, gamete retrieval and preparation, embryo culture, embryo transfer and cryopreservation.

Comprehensive in scope, the text contains an introduction to the field of clinical reproductive science and a review of assisted reproductive technology. The author includes information on a wide range of topics such as gonadal development, the regulation of meiotic cell cycle, the biology of sperm and spermatogenesis, in vitro culture, embryo transfer techniques, fundamentals of fertilisation, oocyte activation and much more. This important resource: 

• Offers an accessible guide to the most current research and techniques to the science of clinical reproduction
• Covers the fundamental elements of reproductive science
• Includes information on male and the female reproductive basics – everything from sexual differentiation to foetal development and parturition
• Explores the long-term health of children conceived through IVF
• Contains the newest developments in assisted reproductive technology

Clinical Reproductive Science is a valuable reference written for professionals in academia, research and clinical professionals working in the field of reproductive science, clinical embryology and reproductive medicine.  

Leseprobe

Clinical Reproductive Science

Edited by Michael Carroll

Manchester Metropolitan UniversityManchesterUK

This edition first published 2019© 2019 John Wiley & Sons Ltd

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Library of Congress Cataloging‐in‐Publication Data

Names: Carroll, Michael, 1974– editor.Title: Clinical reproductive science / [edited by] Michael Carroll.Description: Hoboken, NJ : Wiley‐Blackwell, 2018. | Includes bibliographical references and index. |Identifiers: LCCN 2018023658 (print) | LCCN 2018024515 (ebook) | ISBN 9781118977255 (Adobe PDF) | ISBN 9781118977248 (ePub) | ISBN 9781118975954 (hbk.)Subjects: | MESH: Infertility–therapy | Reproductive Techniques, Assisted | Embryonic DevelopmentClassification: LCC RG133.5 (ebook) | LCC RG133.5 (print) | NLM WP 570 | DDC 616.6/9206–dc23LC record available at https://lccn.loc.gov/2018023658

Cover design: WileyCover image: © Dabarti CGI/Shutterstock

I dedicate this book to my Mother (always in my thoughts), and to my children Isabelle, Darwin, and Leo.

List of Contributors

Omar Abdel‐MannanPopulation Policy and PracticeInstitute of Child HealthLondonUK

Tope AdeniyiDepartment of Reproductive MedicineOld St Mary’s HospitalManchester University NHS Foundation TrustManchesterUK

Muhammad A. AkhtarDepartment of Reproductive MedicineOld St Mary’s HospitalManchester University NHS Foundation TrustManchesterUK

Ruth ArnesenReproductive Health Group,Centre for Reproductive HealthDaresbury ParkDaresburyUK

Brendan BallBourn Hall Fertility CentreAl Hudaiba Awards BuildingJumeirahDubaiUAE

Stéphane BerneauSchool of Healthcare ScienceManchester Metropolitan UniversityJohn Dalton BuildingManchesterUK

Daniel R. BrisonMaternal and Fetal Health Research CentreDivision of Developmental Biology and MedicineSchool of Medicine, Faculty of Biology, Medicine and HealthUniversity of ManchesterManchesterUKandDepartment of Reproductive MedicineOld St Mary’s HospitalManchester University NHS Foundation TrustManchesterUK

Michael CarrollSchool of Healthcare ScienceManchester Metropolitan UniversityManchesterUK

James CoeyDepartment of Anatomical SciencesSt Georges’ University School of MedicineKBT Global Scholar’s ProgramNewcastle upon TyneUK

J. Diane CritchlowDepartment of Reproductive MedicineOld St Mary’s HospitalManchester University NHS Foundation TrustManchesterUK

Rachel CuttingJessop FertilityThe Jessop WingSheffieldUK

Emma DerbyshireNutritional Insight LtdSurreyUK

Derrick EbotDepartment of Anatomical SciencesSt Georges’ University School of MedicineKBT Global Scholar’s ProgramNewcastle upon TyneUK

Edmond Edi‐OsagieDepartment of Reproductive MedicineOld St Mary’s HospitalManchester University NHS Foundation TrustManchesterUK

Val Edwards JonesSchool of Healthcare ScienceManchester Metropolitan UniversityJohn Dalton BuildingManchesterUK

Cheryl T. FitzgeraldDepartment of Reproductive MedicineOld St Mary’s HospitalManchester University NHS Foundation TrustManchesterUK

Tom P. FlemingBiological SciencesUniversity of SouthamptonSouthampton General HospitalSouthamptonUK

Jacques GilloteauxUnité de Recherche en Physiologie Moléculaire (URPhyM)Faculté de MédecineUniversité de NamurNamurBelgium

Stephen HarbottleCambridge IVFCambridge University Hospitals, NHS Foundation TrustCambridgeUK

Mary HerbertNewcastle Fertility CentreCentre for Life, Times SquareNewcastle upon TyneUK

and

Wellcome Trust Centre for Mitochondrial ResearchInstitute of Genetic MedicineNewcastle UniversityNewcastle upon TyneUK

Elizabeth HesterFaculty of Biology, Medicine and HealthThe University of ManchesterManchesterUK

Haider HilalDepartment of Anatomical SciencesSt Georges’ University School of MedicineKBT Global Scholar’s ProgramNewcastle upon TyneUK

Louise HyslopNewcastle Fertility CentreInternational Centre for LifeNewcastle upon TyneUK

Narmada KatakamReproductive Health GroupCentre for Reproductive HealthDaresbury ParkDaresburyUK

Robbie KerrGCRM‐Belfast LtdEdgewater HouseBelfastUK

Henry J. LeeseHull York Medical SchoolUniversity of HullHullUK

Colleen LynchCooper GenomicsMediCity NottinghamNottingham

Luciano G. NardoReproductive Health GroupCentre for Reproductive HealthDaresbury ParkDaresburyUK

Mahshid Nickkho‐AmiryDepartment of Reproductive MedicineOld St Mary’s HospitalManchester University NHS Foundation TrustManchesterUK

Allan PaceyDepartment of Oncology & Metabolism AcademicUnit of Reproductive and Developmental MedicineThe Jessop WingSheffieldUK

Rebecca M. PerrettNuffield Department of Clinical NeurosciencesJohn Radcliffe HospitalOxfordUK

Aarush SajjadSofia Medical UniversitySofiaBulgaria

Solmaz Gul SajjadSofia Medical UniversitySofiaBulgaria

Yasmin SajjadBurjeel Center for Reproductive MedicineBurjeel HospitalAbu DhabiUAE

Bert StewartReproductive Health GroupCentre for Reproductive HealthDaresbury ParkDaresburyUK

Sara SulaimanDepartment of Anatomical SciencesSt Georges’ University School of MedicineKBT Global Scholar’s ProgramNewcastle upon TyneUK

Congshan SunBiological SciencesUniversity of SouthamptonSouthampton General HospitalSouthamptonUK

Alastair G. SutcliffePopulation Policy and PracticeInstitute of Child HealthLondonUK

Mathew TomlinsonFertility UnitNottingham University HospitalNottinghamUK

Ana‐Maria TomovaSchool of Healthcare ScienceManchester Metropolitan UniversityJohn Dalton BuildingManchesterUK

Rosa TrigasDepartment of Reproductive MedicineOld St Mary’s HospitalManchester University NHS Foundation TrustManchesterUK

Nikolaos TsamprasDepartment of Reproductive MedicineOld St Mary’s HospitalManchester University NHS Foundation TrustManchesterUK

Caroline WatkinsReproductive Health GroupCentre for Reproductive HealthDaresbury ParkDaresburyUK

Katrina WilliamsDepartment of Oncology and MetabolismAcademic Unit of Reproductive and Developmental MedicineThe Jessop WingSheffieldUK

Bryan WoodwardX&Y FertilityLeicesterUK

Dawn YellComplete Fertility Centre SouthamptonPrincess Anne HospitalSouthamptonUK

Kenneth Ma Kin YueDepartment of GynaecologyCentral Manchester University Hospitals NHS TrustManchesterUK

About the Editor

Dr Michael Carroll is a Senior Lecturer in Reproductive Science and the Course Director for the MSc in Clinical Science/Cellular Science. This is the academic component for the Scientist Training Program (STP), which is part of the Department of Health’s Modernising Science Careers (MSC). The MSC is a UK‐wide government initiative to address the training and education needs of the whole healthcare science workforce in the National Health Service (NHS). The Cellular Science STP is designed to train and educate clinical embryologists, andrologists, histopathologists, and cytopathologists for the UK clinical workforce.

Michael studied Toxicology (Athlone Institute of Technology, Eire) and Biomedical Science (University of Bradford). After completing a PhD in Reproductive Cellular Physiology from the University of Newcastle he went on to postdoctoral positions at the Howard Hughes Medical Institute, UT Southwestern, Dallas, The CNRS, Station Zollogique, VileFranceh sur Mer, France, and at Southampton University. After his time in research Michael trained as a Clinical Embryologist (obtaining the ACE Postgraduate Certificate in Clinical Embryology) and worked in a busy IVF clinic before being appointed as a Lecturer in Reproductive Science at Manchester Metropolitan University. Michael's research interests includes reproductive cell biology, andrology, investigating lifestyle and environmental effects on human sperm, and evolutionary biology.

Preface

Infertility is defined as a disease of the reproductive system that can result in the inability to achieve a pregnancy within 12 months of trying. Assisted reproductive technology (ART) is in its fortieth year, and since the birth of Louise Brown – the first IVF baby – over 6.5 million babies have been born through ART.

The field of ART has expanded in terms of what we understand about human reproduction, the causes of infertility, and how ART has developed as a field of medicine to treat infertility.

The training of Clinical Embryologists in the UK is intensive. Trainees are selected through a very competitive recruitment process and those who are successful are enrolled on to the Scientist Training Programme (STP). As part the STP, trainees must enrol on an MSc in Clinical Science and undertake their clinical training in an IVF clinic. The MSc and training is carried out over three years, and after successful completion of both elements, the trainee can then register as a Clinical Scientist.

As the Programme Director for the MSc, I believed a textbook containing all the elements of the Clinical Reproductive Science Academic Programme would be a useful learning source. Therefore, the aim of this book is to provide a concise text to support the Clinical Embryologists and Andrologists in training. The format and style of this book also makes it a good source for Doctors, Nurses and Scientists with an interest in clinical reproductive science, and for both undergraduate and postgraduate students studying reproductive science. The authors of each chapter are leading Clinicians, Clinical Embryologists, Andrologists, and Scientists in the UK and abroad.

Areas such as ethics and regulation have been intentionally omitted so an international readership can appreciate the science and clinical practice of reproductive science. As ethics and regulation will vary in each country, such readers are encouraged to seek alternative sources for this information.

This book is divided into three sections. Section 1 outlines the fundamentals of human reproduction from the development of the gonads and external genitals to embryo development and how the Fallopian tube influences embryo development and health. Some chapters on basic anatomy and physiology are present as a source of reference to support chapters in Sections 2 and 3. Other chapters are detailed reviews of the areas of development and reproduction, which will give the reader a more in‐depth knowledge base. Section 2 concerns infertility. There are chapters covering disorders of male and female reproductive endocrinology, and pathologies of both the male and female reproductive system, which can affect reproduction. The effect of maternal age on oocyte quality is included as well as chapters describing how lifestyle, environment, and infections can affect fertility. Section 3 covers the practical and clinical aspects of clinical reproductive science, including patient consultation and assessment, ovarian stimulation, gamete retrieval and preparation, in vitro insemination and intracytoplasmic sperm injection, embryo culture, embryo transfer, and cryopreservation. There is also a chapter on preimplantation genetic screening and on the long‐term follow‐up of children conceived through ART.

Overall, this book offers the reader a complete up‐to date volume on clinical reproductive science and will be an invaluable concise source for this field.

Michael Carroll PhD, CBiol, FRSB, FIBMS, FHEA, FLS

Manchester, 2018

Acknowledgements

A book of this nature and size would not be possible to accomplish without the willingness and hard work of all the contributors. Thank you all for giving your time to write the chapters that make this book what it is.

I would like to thank Henry Leese for reviewing some of the chapters and his constant encouragement during this process. Thanks also goes to Phoebe Ingram, Keith Carroll, Mahdi Lamb, and Ana‐Maria Tomova for providing the illustrations presented in some chapters.

And finally, thank you Sarah for your patience and taking the burden of parenthood during this process.

About the Companion Website

Don’t forget to visit the companion website for this book:

www.wiley.com/go/carroll/clinicalreproductivescience

There you will find valuable material designed to enhance your learning, including:

Figures from the book (colour images)

Section OneReproductive Science: Fundamentals of Human Reproductive Biology

1Sexual Differentiation, Gonadal Development, and Development of the External Genitalia: A Review of The Regulation of Sexual Differentiation

Rebecca M. Perrett

Introduction

The development of one’s sex comprises ‘sex determination’ – the development of the undifferentiated gonad into testis or ovaries during embryogenesis, followed by ‘sex differentiation’ – the determination of phenotypic sex induced by factors produced by the differentiated gonad. This chapter will highlight the molecular mechanisms underpinning these two processes.

During the first 2 weeks of human embryonic development, the only difference between XX and XY embryos is their karyotype. At the two‐cell stage of the XX zygote, X chromosome inactivation occurs, enabling males and females to have equal transcript levels from the X chromosome (Huynh and Lee 2001). In developing germ cells, the X is reactivated in the female, so both X chromosomes contribute to oogenesis (Sugimoto and Abe 2007).

The Bipotential Gonad

During the fourth week of human development, the urogenital ridges develop as a thickening of the mesodermic mesonephros covered by coelomic epithelium (CE); it is from this structure that the urogenital system and adrenal cortex originate. In the fifth week, or mouse embryonic day (E) 9.5–10.5, the urogenital ridge divides into a urinary and adreno‐gonadal ridge the latter of which forms the gonads and adrenal gland (Swain and Lovell‐Badge 1999). Until the sixth week of human development, or mouse E11.5, the undifferentiated gonads of XX and XY individuals are identical and have the potential to form either ovary or testes (bipotential).

Molecular Determinants of Gonadal Development

A number of factors have been shown to be required for the development of the undifferentiated gonad, as illustrated in Figure 1.1. However, due to the limited studies in human development, mouse studies have revealed several more important factors involved in gonadal development, and these are outlined below.

Figure 1.1 Simplistic illustration of the molecular determinants for gonadal differentiation. In the presence of SRY, SOX9 is upregulated and is responsible for the regulation for testicular development. In the absence of SRY, pro‐ovarian factors regulate ovarian development (see text for more detail).

Empty spiracles homeobox 2 (Emx2)

Emx2 encodes a homeodomain transcription factor expressed in urogenital epithelial cells. Knockout mice completely lack kidneys, gonads, ureters and genital tracts, but the adrenal glands and bladder are normal (Miyamoto et al. 1997), indicating Emx2 acts after division of the urogenital ridge. It may regulate tight junction assembly, allowing migration of the gonadal epithelia to the mesenchyme (Kusaka et al. 2010).

Paired box gene 2 (Pax2)

Pax2 is a transcriptional regulator expressed within the urogenital system during development, in both ductal and mesenchymal components (Torres et al. 1995). Null mice lack kidneys, ureters, and genital tracts, and the Wolffian and Müllerian tracts degenerate.

Transcription factor 2 (Tcf2)

The POU domain containing Tcf2 gene functions in epithelial differentiation (Coffinier et al. 1999; Kolatsi‐Joannou et al. 2001). It is essential for urogenital development, as patients harbouring mutations exhibit genital malformations (Lindner et al. 1999; Bingham et al. 2002).

Steroidogenic factor 1 (Sf1)/Nr5a1

The transcription factor Sf1 is expressed in the hypothalamus, pituitary, gonads, and adrenal glands (Luo et al. 1994; Val et al. 2003). Null mice lack gonads and adrenal glands (Luo et al. 1994; Shinoda et al. 1995). Sf1 also functions later in testis development.

Wilms’ tumour 1 (Wt1)

Wt1 encodes multiple isoforms of a zinc finger protein, which act as transcriptional repressors (Menke et al. 1998) or activators (Lee et al. 1999). The –KTS variant promotes cell survival and proliferation in the indifferent gonad, whereas the +KTS isoform functions in testes differentiation (Hammes et al. 2001). The –KTS isoform activates the sex‐determining region Y (Sry) and Sf1 promoters (Hossain and Saunders 2001; Wilhelm and Englert 2002). Wt1 is expressed in urogenital ridges (Pritchard‐Jones et al. 1990) where it maintains the identity of adreno‐gonadal primordium (AGP) the precursor to the gonads and adrenal primordia (Bandiera et al. 2013). Accordingly, null mice lack kidneys and gonads (Kreidberg et al. 1993).

LIM homeobox 9 (Lhx9)

Knockout of Lhx9, a homeobox protein, causes failure of gonadal development (Birk et al. 2000) and synergizes with Wt1 to regulate Sf1 expression (Birk et al. 2000; Wilhelm and Englert 2002).

Chromobox homologue 2 (Cbx2)

Cbx2 is the mouse homologue of the Drosophila polycomb gene and regulates transcription by altering chromatin structure. Knockout XX mice have small or absent ovaries and XY mice show male–female sex reversal (Katoh‐Fukui et al. 1998). Cbx2 may regulate Sf1 expression in the gonad, as it does in the adrenal gland (Katoh‐Fukui et al. 2005), or it may alter Sry expression directly (Katoh‐Fukui et al. 2012).

CBP/p300 interacting transactivator, with glu/asp‐rich c‐terminal domain, 2 (Cited2)

Cited2 is a transcriptional regulator expressed in the AGP, and later in the CE and underlying mesenchyme of the genital ridge (Bhattacharya et al. 1999; Braganca et al. 2003). It cooperates with Wt1 to stimulate Sf1 expression in the AGP (Val et al. 2007; Buaas et al. 2009), and also ensures Sry levels are sufficient to trigger testis determination.

Gata binding protein 4 (Gata4)

Gata4 is a transcription factor first detected at E11.5 in somatic cells of XX and XY gonads; at E13.5 it is upregulated in XY Sertoli cells and downregulated in interstitial cells and XX gonads (Viger et al. 1998). It is required for gonadal ridge formation (Hu et al. 2013), along with later functions in testicular and ovarian development.

Primordial Germ Cells

Specification

Primordial germ cells (PGCs), the founder cells of the germ cell lineage, are typically established early during embryonic development. Germ cell specification can either occur through the inheritance of germ cell determinants already present in the egg (preformation), as in Drosophila melanogaster and Caenorhabditis elegans, or in response to inductive signals, as for mice and probably all mammals (epigenesis) (Extavour and Akam 2003; Saitou and Yamaji 2012).

Mouse PGCs (mPGCs) originate in the pluripotent proximal epiblast at about E6.0 when they respond to signals from extraembryonic tissues and express Fragilis/Interferon‐induced transmembrane protein 3 (Ifitm3) (Saitou et al. 2002). Bone morphogenetic protein 4 (Bmp4) and 8b from the extraembryonic ectoderm and Bmp2 and wingless‐type MMTV integration site family, member 3 (Wnt3) from the visceral endoderm are critical for specification (Lawson et al. 1999; Ying et al. 2000; Ying and Zhao, 2001; Ohinata et al. 2009). At E6.25, about six of these cells express B‐lymphocyte‐induced maturation protein 1 (Blimp1, also known as PR domain‐containing 1, Prdm1): these cells are PGC precursors (Ohinata et al. 2005), although further cells are recruited to become PGCs before E7.25 (Saitou et al. 2002; McLaren and Lawson 2005; Ohinata et al. 2005). Wnt3 acts via β‐catenin to activate the mesodermal factor T (brachyury), which in turn induces Blimp1 and Prdm14 expression (Aramaki et al. 2013); these are transcriptional repressors which suppress the somatic program while allowing establishment of germ cell character (Saitou et al. 2002; Saitou et al. 2005; Ohinata et al. 2005; Vincent et al. 2005; Yabuta et al. 2006; Seki et al. 2007; Kurimoto et al. 2008; Yamaji et al. 2008). The expression of genes which establish/maintain pluripotency are retained via the epiblast, including Sox2, Nanog, Oct4, and Embryonal stem cell gene 1 (Esg1) (Scholer et al. 1990; Ohinata et al. 2005; Western et al. 2005; Yamaguchi et al. 2005; Yabuta et al. 2006; Chambers et al. 2007).

Following establishment of the germ cell lineage, extensive reprogramming of the genome occurs, i.e. erasure of epigenetic marks such as DNA methylation and establishment of new marks (Surani 2001; Hajkova et al. 2002). Imprinting must be reprogrammed in the germ line, as a maternal allele in one generation may be a paternal allele in the next. PGCs do initially acquire genome wide de novo