Garcia-Velasco, J: Human Reproductive Genetics

322 Pages·2020·13.716 MB·English

by  Juan A. Garcia-Velasco (editor), Emre Seli (editor)

HUMAN REPRODUCTIVE GENETICS
HUMAN
REPRODUCTIVE
GENETICS
EMERGING TECHNOLOGIES AND
CLINICAL APPLICATIONS
Editedby
Juan A. Garc´ıa-Velasco
ReyJuanCarlosUniversity,Madrid,Spain
IVIRMAMadrid,Madrid,Spain
Emre Seli
YaleUniversity,NewHaven,CT,UnitedStates
ChiefScientificOfficer,IVIRMAGlobal,BaskingRidge,NJ,UnitedStates
AcademicPressisanimprintofElsevier
125LondonWall,LondonEC2Y5AS,UnitedKingdom
525BStreet,Suite1650,SanDiego,CA92101,UnitedStates
50HampshireStreet,5thFloor,Cambridge,MA02139,UnitedStates
TheBoulevard,LangfordLane,Kidlington,OxfordOX51GB,UnitedKingdom
Copyright©2020ElsevierInc.Allrightsreserved.
Nopartofthispublicationmaybereproducedortransmittedinanyformorbyanymeans,electronicormechanical,includingphoto-
copying,recording,oranyinformationstorageandretrievalsystem,withoutpermissioninwritingfromthepublisher.Detailsonhow
toseekpermission,furtherinformationaboutthePublisher’spermissionspoliciesandourarrangementswithorganizationssuchas
theCopyrightClearanceCenterandtheCopyrightLicensingAgency,canbefoundatourwebsite:www.elsevier.com/permissions.
ThisbookandtheindividualcontributionscontainedinitareprotectedundercopyrightbythePublisher(otherthanasmaybenoted
herein).
Notices
Knowledgeandbestpracticeinthisfieldareconstantlychanging.Asnewresearchandexperiencebroadenourunderstanding,
changesinresearchmethods,professionalpractices,ormedicaltreatmentmaybecomenecessary.
Practitionersandresearchersmustalwaysrelyontheirownexperienceandknowledgeinevaluatingandusinganyinformation,
methods,compounds,orexperimentsdescribedherein.Inusingsuchinformationormethodstheyshouldbemindfuloftheirown
safetyandthesafetyofothers,includingpartiesforwhomtheyhaveaprofessionalresponsibility.
Tothefullestextentofthelaw,neitherthePublishernortheauthors,contributors,oreditors,assumeanyliabilityforanyinjury
and/ordamagetopersonsorpropertyasamatterofproductsliability,negligenceorotherwise,orfromanyuseoroperationofany
methods,products,instructions,orideascontainedinthematerialherein.
BritishLibraryCataloguing-in-PublicationData
AcataloguerecordforthisbookisavailablefromtheBritishLibrary
LibraryofCongressCataloging-in-PublicationData
AcatalogrecordforthisbookisavailablefromtheLibraryofCongress
ISBN:978-0-12-816561-4
ForInformationonallAcademicPresspublications
visitourwebsiteathttps://www.elsevier.com/books-and-journals
Publisher:StacyMasucci
AcquisitionsEditor:TariBroderick
EditorialProjectManager:PatGonzalez
ProductionProjectManager:SwapnaSrinivasan
CoverDesigner:MilesHitchen
TypesetbyMPSLimited,Chennai,India
Contents
List of contributors ix 4. Molecular biology approaches utilized in
About the editors xi preimplantation genetics: real-time PCR,
microarrays, next-generation sequencing,
Preface xiii
karyomapping, and others
A ALMUDENADEVESA-PEIRO´,JOSEFAMARI´ASA´NCHEZ-
REYESANDPATRICIADI´AZ-GIMENO
FUNDAMENTALS OF Theembryofactor:preimplantationgenetictesting
GENETICS techniquesforembryoselectionagainst
chromosomalabnormalitiesandmonogenic
disorders 49
1. Basic genetics: mitosis, meiosis, Theendometrialfactor:geneexpressiondiagnostictools
chromosomes, DNA, RNA, and beyond toassessendometrialreceptivity 60
Generalconclusion 63
AMANDAN.KALLEN References 64
Furtherreading 67
Introduction 3
References 15
5. Epigenetics and imprinting in assisted
2. Identification of genetic causes of reproduction
gynecologic disorders DIEGOMARINANDEMRESELI
ALEXANDERKOTLYARANDMARIAD.LALIOTI Introduction 69
Molecularmechanismsofepigeneticregulation 70
Introduction 17
Epigeneticsofaging 75
TheHumanGenomeProject,Mendelianandcomplex
Aspecialaspectofepigenetics:imprinting 78
geneticinheritance 17
Assistedreproductivetreatmentandtheepigenome 79
Differencebetweenmutationsandpolymorphisms 18
Summaryandconclusions 80
Approachesforidentifyingthegeneticcauseofa
References 81
disorder 18
Furtherreading 86
Summary 28
References 28
B
3. Cytogenetics techniques
CLINICAL SCENARIOS
INMACULADACAMPOS-GALINDO
Introduction 33
6. The quest for genetic sequence variants
Karyogram,karyotype,andidiogram 34
Mostfrequentkaryotypeabnormalities 35 conferring risk of endometriosis
Heteromorphisms,polymorphisms,ornormal
SUN-WEIGUO
variants 39
References 44 Introduction 91
v
vi
Contents
Aprimerongeneticstudiesofcomplexdiseasesanda Conclusionsandclinicalimplications 168
reviewofendometriosisgenetics 94 References 169
Identificationofgenesand/orgeneticvariants:
recombination,linkagedisequilibrium,and 11. Genetics of premature ovarian
association 98 insufficiency
Layersofcomplexity 100
JOSESERNA,ELISAVARELAAND
Conclusion 103 JUANA.GARCI´A-VELASCO
Acknowledgment 104
References 104 Introduction 173
Prematureovarianinsufficiencyetiology 174
7. Genetics of polycystic ovarian syndrome Technicaladvances 175
Geneticsoftheovarianreserve 175
YVONNEV.LOUWERSANDJOOPS.E.LAVEN
Folliculardevelopment 177
Introduction 111 Syndromicprematureovarianinsufficiency 178
Heritability 112 FragileXsyndrome 181
Candidategenestudies 112 Roleoftelomeresinprematureovarian
Genome-wideassociationstudies 114 insufficiency 185
Functionalstudies 116 Futurediagnosisandtreatment 187
Conclusion 119 References 187
References 119 Furtherreading 199
12. Prenatal testing
8. Male factor infertility: genetic and
epigenetic aspects JOSHUAA.COPEL,KATHERINEKOHARI
ANDAUDREYA.MERRIAM
BRENTM.HANSONANDJAMESM.HOTALING
Aneuploidyscreeningtests 201
Introduction 123 Diagnosticprenatalgenetictesting 213
Geneticaspectsofmaleinfertility 126 Availabletestingmodalities 216
Epigeneticaspectsofmaleinfertility 132 References 219
Implications 137
References 138 13. Expanded carrier screening in
reproductive medicine
9. Mitochondrial genetics
JEFFREYS.DUNGAN
ELPIDAFRAGOULI
Principlesofcarrierscreening 224
Introduction 143 Historicperspectives 224
Mitochondrialinheritanceandreplication 144 Otheraspectsoftraditionalethnicity-based
Mitochondrialdiseases 145 screening 225
Mitochondriainoocytes 146 Universalscreening 226
Mitochondriainsperm 148 Roleofexpandedcarrierscreening 226
Mitochondriainembryos 149 Mutationscreeningversusgenesequencing 229
Conclusion 152 Genotype(cid:1)phenotypecorrelations 230
References 153 Determinationofresidualrisk 230
Clinicalutilityofexpandedcarrierscreening 231
10. Endometrial receptivity and genetics Optionsforcarriercouples 233
CarrierscreeningforX-linkeddisorders 233
NICKMACKLON
Counselingforconsanguineouscouples 234
Introduction 159 Counselingregardingvariantsofuncertain
Geneticmarkersofendometrialfunction 159 significance 235
Beyondendometrialreceptivity 162 Gametedonors 235
vii
Contents
Ethicalargumentsinfavorofexpandedcarrier D
screening 236
Practicalargumentsopposingexpandedcarrier REPRODUCTIVE GENETIC
screening 236 COUNSELING
Genesonexpandedcarrierscreeningpanelswith
additionalimplications 236
Identifyingindividualswithtwopathogenic 16. Psychological aspects of reproductive
variants 237 genetic screening and diagnoses
Conclusion 237
References 238 DOROTHYA.GREENFELD
Reproductivegeneticscreening 274
C Preconceptioncarrierscreening 274
Preimplantationgenetictestingformonogenic
HOW TO ANALYZE AN EMBRYO defects 275
Preimplantationgenetictestingfor
aneuploidy 278
14. Preimplantation genetic testing for Theroleoftheinfertilitycounselor 279
monogenic diseases Conclusions 280
References 280
ANACERVEROANDJULIOMARTI´N
Introduction 243 17. Bioethics in human reproduction
Indicationsforpreimplantationgenetictestingfor (human reproductive genetics)
monogenicdiseases 244
HEIDIMERTESANDGUIDOPENNINGS
Technologiesandtestingmethods 247
Simultaneousembryotestingforpreimplantationgenetic Introduction 283
testingformonogenicdiseasesandpreimplantation Preconceptiongenetictesting 283
genetictestingforaneuploidies 250 Preimplantationgenetictesting 286
Limitations 251 Preimplantationgeneticdiagnosis 287
Conclusion 251 Preimplantationgenetictestingforaneuploidy
References 252 screening 288
Prenatalgenetictesting 289
15. Futuretechnologies for References 291
preimplantation genetic applications
18. The role of genetic counseling in the
NADAKUBIKOVAANDDAGANWELLS
infertile patient
Preimplantationgenetictesting 255
JOSEPPLA-VICTORI
Noninvasivepreimplantationgenetictesting 256
Futureperspectivesinpreimplantationgenetictesting Introduction 295
formonogenicdisease 258 Karyotypealterationsasacauseofinfertility 298
Preimplantationgenetictestingforpolygenic Geneticcounselinginpreimplantationgenetic
disease 260 testing 302
Whole-genomesequencingofthepreimplantation Monogeniccausesofinfertility 303
embryo 260 Geneticcounselinginexpandedcarrier
Germlinegenomeediting 261 screening 306
Howfararewefrom(safe)clinicalapplicationof Communicationskillsingenetics 307
genomeediting? 262 References 312
Ethicalconsiderationsforgermlinegenomeediting 264
Index 317
References 266
List of contributors
Inmaculada Campos-Galindo Igenomix, Valencia, Brent M. Hanson RMA New Jersey, Sidney
Spain Kimmel Medical College at Thomas Jefferson
AnaCervero Igenomix,Valencia,Spain University,BaskingRidge,NJ,UnitedStates
Joshua A. Copel Department of Obstetrics, James M. Hotaling Department of Surgery (cid:1)
Urology, University of Utah Center for
Gynecology, and Reproductive Sciences, Section
Reconstructive Urology and Men’s Health, Salt
of Maternal-Fetal Medicine, Yale School of
Medicine,NewHaven,CT,UnitedStates LakeCity,UT,UnitedStates
Almudena Devesa-Peiro´ Department of Genomic Amanda N. Kallen Department of Obstetrics,
Gynecology and Reproductive Sciences, Yale
& Systems Reproductive Medicine, IVI-RMA IVI
School of Medicine, New Haven, CT, United
Foundation, Valencia, Spain; Department of
States
Pediatrics,ObstetricsandGynaecology,Schoolof
Medicine,UniversityofValencia,Valencia,Spain Katherine Kohari Department of Obstetrics,
Patricia Dı´az-Gimeno Department of Genomic & Gynecology, and Reproductive Sciences, Section
of Maternal-Fetal Medicine, Yale School of
Systems Reproductive Medicine, IVI-RMA IVI
Medicine,NewHaven,CT,UnitedStates
Foundation, Valencia, Spain; Biomedical
ResearchInstituteHospitalLaFe,Valencia,Spain Alexander Kotlyar Section of Reproductive
Jeffrey S. Dungan Division of Clinical Genetics, Endocrinology and Infertility, Department of
Obstetrics, Gynecology, and Reproductive
Department of Obstetrics & Gynecology,
Sciences, Yale School of Medicine, Yale
Northwestern University Feinberg School of
Medicine,Chicago,IL,UnitedStates University,NewHaven,CT,UnitedStates
Elpida Fragouli IVI RMA Global, Magdalen Nada Kubikova Nuffield Department of Women’s
and Reproductive Health, John Radcliffe
Centre, Oxford Science Park, Oxford, United
Hospital, University of Oxford, Oxford, United
Kingdom;NuffieldDepartmentofObstetricsand
Gynaecology, University of Oxford, John Kingdom
RadcliffeHospital,Oxford,UnitedKingdom Maria D. Lalioti Department of Translational
Juan A. Garcı´a-Velasco IVI Foundation, Madrid, Genomics, Goldfinch Bio, Cambridge, MA,
UnitedStates
Spain;IVIRMAMadrid,Madrid,Spain;ReyJuan
CarlosUniversity,Madrid,Spain Joop S.E. Laven Division of Reproductive
Dorothy A. Greenfeld Yale University School of Endocrinology and Infertility, Erasmus
University Medical Center, Rotterdam, The
Medicine,NewHaven,CT,UnitedStates
Netherlands
Sun-Wei Guo Shanghai Obstetrics and
Yvonne V. Louwers Division of Reproductive
Gynecology Hospital, Fudan University,
Shanghai, P.R. China; Shanghai Key Laboratory Endocrinology and Infertility, Erasmus
University Medical Center, Rotterdam, The
of Female Reproductive Endocrine-Related
Netherlands
Diseases,FudanUniversity,Shanghai,P.R.China
ix
x
Listofcontributors
Nick Macklon London Women’s Clinic, London, Josefa Mar´ıa Sa´nchez-Reyes Department of
United Kingdom; Zealand University Hospital, Genomic & Systems Reproductive Medicine, IVI-
Koege,Denmark RMA IVI Foundation, Valencia, Spain;
Diego Marin IVIRMA New Jersey, Basking Ridge, Department of Pediatrics, Obstetrics and
Gynaecology, School of Medicine, University of
NJ, United States; Thomas Jefferson University,
Philadelphia,PA,UnitedStates Valencia,Valencia,Spain
JulioMartı´n Igenomix,Valencia,Spain EmreSeli IVIRMANewJersey,BaskingRidge,NJ,
United States; Yale School of Medicine, New
Audrey A. Merriam Department of Obstetrics,
Haven,CT,UnitedStates
Gynecology, and Reproductive Sciences, Section
Jose Serna IVI RMA Zaragoza, Zaragoza, Spain;
of Maternal-Fetal Medicine, Yale School of
Medicine,NewHaven,CT,UnitedStates IVIFoundation,Madrid,Spain
Heidi Mertes Department of Philosophy and Elisa Varela IVI Foundation, Madrid, Spain; IVI
RMAMadrid,Madrid,Spain
Moral Science, Bioethics Institute Ghent (BIG),
GhentUniversity,Gent,Belgium Dagan Wells Nuffield Department of Women’s
Guido Pennings Department of Philosophy and and Reproductive Health, John Radcliffe
Moral Science, Bioethics Institute Ghent (BIG), Hospital, University of Oxford, Oxford, United
Kingdom; Juno Genetics, Oxford, United
GhentUniversity,Gent,Belgium
Kingdom
Josep Pla-Victori IVI-RMA Global, Barcelona,
Catalonia,Spain
About the editors
JuanA.Garcı´a-Velasco
Dr.Garc´ıa-Velasco,MD,PhD,isDirectorofIVIMadrid.HeisalsoaFullProfessorofObstetricsand
Gynecology at Rey Juan Carlos University, Madrid, Spain, where he is Director of their Master’s
DegreePrograminHumanReproduction.HegraduatedfromUniversityMedicalSchool,Madrid,in
1990andreceivedhisObstetricsandGynecologycertificationfromLaPazHospital,Madrid,in1995.
He completed his PhD in Medicine from Autonoma University, Madrid, in 1995 and from 1997 to
1998 he studied at Yale University, New Haven, CT, under a Reproductive Endocrinology and
Infertility Fellowship. His main research interests have been in IVF and endometriosis. He is the
PrincipalInvestigatorofprojectsfundedbytheMinistryofEducationandMinistryofHealth,Spain,
and has received awards from the Spanish Fertility Society, Spanish Society of Obstetrics and
Gynecology, and theEuropeanSociety of Human Reproductionand Embryology.Hehas published
over 200 peer-reviewed articles as well as 22 book chapters on human reproduction, endometriosis,
and difficult cases such as women with hypo- and hyperresponse to ovarianstimulation, and is the
author/editorofseveralbooks.
EmreSeli
Dr. Seli is Professor of Obstetrics, Gynecology, and Reproductive Sciences at Yale School of
Medicine and Chief Scientific Officer at IVIRMA Global. He received his medical degree from the
University of Istanbul and completed his Residency in Obstetrics and Gynecology at Yale
University. His postdoctoral training included a fellowship in Reproductive Endocrinology and
Infertility as well as a research fellowship in Molecular Biology, both at Yale University. As a
physician-scientist,hisprimaryfocusistounderstandandtreatinfertility.Hislaboratorycharacter-
ized the mechanisms regulating translational activation of gene expression in the oocyte. Dr. Seli
and his colleagues also made seminal contributions to our understanding of oocyte and embryo
competenceinIVFandthepotentialroleofnoninvasivediagnostictechnologiesinthiscontext.Dr.
Seli is the recipient of many National Institutes of Health (NIH) and pharmaceutical industry-
sponsored research grants as well as numerous awards, including the Ira and Ester Rosenwaks
New Investigator Award, American Society for Reproductive Medicine (ASRM), and the
President’sAchievementAwardfromtheSocietyforReproductiveInvestigation(SRI).
xi