Human Reproductive and Prenatal Genetics
- 2nd Edition - March 22, 2023
- Editors: Peter C.K. Leung, Jie Qiao
- Language: English
- Hardback ISBN:9 7 8 - 0 - 3 2 3 - 9 1 3 8 0 - 5
- eBook ISBN:9 7 8 - 0 - 3 2 3 - 9 1 3 8 1 - 2
**Selected for Doody’s Core Titles® 2024 in Clinical Genetics**Human Reproductive and Prenatal Genetics, Second Edition provides application-driven coverage of key topics in h… Read more
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Human Reproductive and Prenatal Genetics, Second Edition provides application-driven coverage of key topics in human reproductive and prenatal genetics, including genetic control underlying the development of the reproductive tracts and gametogenesis, the genetics of fertilization and implantation, the genetic basis of female and male infertility, as well as genetic and epigenetic aspects of assisted reproduction. Also examined are the genetics and epigenetics of the placenta in normal and abnormal pregnancy, preimplantation genetic diagnosis and screening, and cutting-edge advances in noninvasive prenatal screening, prenatal genetic counseling, and bioethical and medicolegal aspects of relevance in the lab and clinic.
This new edition has been fully revised to address new and evolving technologies in human reproductive genetics, with new chapters added on chromatin landscapes and sex determination, genetic alterations of placental development and preeclampsia, metabolism and inflammation in PCOS, pre-implantational genetic testing, maternal genetic disorders, bioethics, and future applications.
- Features chapter contributions from leading international scientists and clinicians
- Provides in-depth coverage of key topics in human reproductive and prenatal genetics, including genetic controls, fertilization, placental development, embryo implantation, in vitro culture of the human embryo for the study of post-implantation development, and more
- Identifies how researchers and clinicians can implement the latest genetic, epigenetic, and –omics-based approaches
- Includes all new chapters on evolving technologies and recent genetic discoveries of relevance to reproductive medicine
Active researchers, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, andrology, embryology, endocrinology, bioinformatics, prenatal testing, and genetic testing; genetic counselors; bioethicists; fertility specialists,students
- Cover
- Title page
- Table of Contents
- Copyright
- Contributors
- Preface
- Part I: Reproductive tract development and gametogenesis
- Chapter 1: Developmental genetics of the male reproductive system
- Abstract
- Introduction
- Early testicular development
- Testicular descent
- Development of the external genitalia
- Birth defects
- Conclusion
- Glossary
- References
- Chapter 2: Developmental genetics of the female reproductive tract
- Abstract
- Introduction
- Embryogenesis of the female reproductive tract
- Ovarian anomalies
- Fallopian tube anomalies
- Uterine anomalies
- Isolated vaginal anomalies
- Conclusion
- References
- Chapter 3: Genetics and genomics of early gonad development
- Abstract
- Acknowledgments
- Introduction
- Molecular physiology in gonad development
- Essential transcription factors in gonad development
- Conclusions
- References
- Chapter 4: Effects of aging on sperm chromatin
- Abstract
- Acknowledgments
- Introduction
- Transformations of the nucleus during spermatogenesis
- Aging and male germ cells
- Conclusion
- References
- Chapter 5: In vitro spermatogenesis from pluripotent stem cells
- Abstract
- Introduction
- Induction of spermatogenesis in mice
- Induction of spermatogenesis in human
- Discussion
- References
- Chapter 6: The molecular genetics of oogenesis
- Abstract
- Acknowledgments
- Introduction
- Oogenesis: An overview
- Nuclear DNA (nDNA) inheritance
- Mitochondrial inheritance
- Summary
- References
- Chapter 7: Growth of the mammalian oocyte: Focus on intercellular contact and communication
- Abstract
- Introduction
- The starting pool of oocytes
- Post-natal oocyte development—An overview
- Initiation of oocyte growth
- Molecular and morphological aspects of oocyte growth
- Interaction between the growing oocytes and the follicular granulosa cells
- Support for the growing oocyte provided by the granulosa cells
- Support for the granulosa cells provided by the growing oocyte
- Maintaining meiotic arrest in growing oocytes
- Release from meiotic arrest at the time of ovulation
- Conclusion
- References
- Chapter 8: In vitro activation of ovarian follicles
- Abstract
- Introduction
- The major signaling pathways in activation of ovarian follicles
- The scientific evidence of IVA
- IVA procedure in clinical perspective
- References
- Part II: Embryo implantation, placenta development and pregnancy
- Chapter 9: Interaction of sperm and embryo with the female reproductive tract
- Abstract
- Fundings
- Introduction
- Selection of spermatozoa for fertilization in FRT
- Embryo–fallopian tube interaction during preimplantation development
- Embryo–uterine interaction
- The emergent roles of extracellular vesicles (EV)
- Concluding remarks
- References
- Chapter 10: MicroRNAs in gametes and preimplantation embryos: Clinical implications
- Abstract
- Acknowledgments
- Introduction
- Overview of oocyte maturation in mammals
- MicroRNA biosynthesis, mechanism of action, and regulation
- MicroRNAs in reproduction
- Conclusions
- References
- Chapter 11: Epigenetic modifications in the human placenta
- Abstract
- Epigenetic features of the placenta
- Monoallelic gene inactivation
- Altered DNAm and placental pathology (Table 11.2)
- Epigenetic associations with maternal exposures
- Clinical applications
- References
- Chapter 12: In vitro models of human blastocysts and early embryogenesis
- Abstract
- Introduction
- Monolayer stem cell models
- In vitro generated embryo models
- The use of blastoids to advance research and clinical applications
- Concluding remarks
- References
- Chapter 13: microRNAs in pregnancy: Implications for basic research and clinical management
- Abstracts
- Introduction
- Basic knowledge of miRNAs
- The sources and characters of miRNAs during pregnancy
- Regulation of miRNA expression in the placenta
- The function of miRNAs during pregnancy
- Maternal diet-induced miRNAs and metabolic health in the offspring
- Circulating miRNAs as diagnostic or predictive biomarkers for pregnancy-associated disorders
- Some concerns in measuring circulating miRNAs
- Summary and perspectives
- Funding
- Glossary
- References
- Chapter 14: Human X-chromosome inactivation: Complexity and clinical implications
- Abstract
- Introduction: Balancing sex-linked gene expression
- The human inactive X chromosome
- Genes escaping X-chromosome inactivation
- The cycle of X-chromosome inactivation
- Diseases associated with the X chromosome
- Concluding remarks
- References
- Chapter 15: The intergenerational effects on fetal programming
- Abstract
- Gamete and embryo-fetal origin of diseases
- Epigenetic patterns in male germ cells
- Epigenetic regulation during oogenesis and oocyte maturation
- Dynamic epigenetic modification
- Studies on fetal programming
- Advances in intergenerational transmission
- Conclusions
- References
- Part III: Infertility and assisted reproductive technology
- Chapter 16: Theoretical and experimental strategies for preservation and restoration of male fertility
- Abstract
- Introduction
- Spermatogonial stem cells (SSCs)
- Cryopreservation of testis cells and tissue
- SSC transplantation
- Testis tissue grafting
- Testis cell-aggregate implantation
- In vitro spermatogenesis
- Overview of scenarios and strategies
- Conclusion
- References
- Chapter 17: Update on the genetics and genomics of premature ovarian insufficiency
- Abstract
- Introduction
- The genetic basis of POI
- Developmental genes
- Meiotic genes
- DNA repair genes
- Apoptotic genes
- Genes protecting from toxicity
- Genes required for follicle development
- Genes required for hormonal signaling
- Steroidogenic genes
- Mitochondrial genes
- Metabolic genes
- Genes affecting immune regulation
- Chromosomal causes
- The missing heritability of POI
- Changing diagnostic practice
- Conclusion/summary
- References
- Chapter 18: Premature ovarian insufficiency
- Abstract
- Introduction
- Genetics and genomics of POI
- A glance at POI studies in China in the last decade
- Stem cell therapy for POI
- Application of stem cells in the treatment of POI in animal models
- Stem cell transplantation to treat POI patients
- Modified approaches to improve the efficiency of stem cell therapy
- Stem cell-related products to improve ovarian function
- Conclusions and future perspectives
- References
- Chapter 19: Genetics of polycystic ovary syndrome
- Abstract
- Introduction
- Defining PCOS
- Familial tendencies and heritability
- Early candidate gene studies
- Genome-wide association studies
- Post-GWAS studies
- Conclusion
- Glossary
- References
- Chapter 20: Developmental origins and genetic basis of polycystic ovary syndrome
- Abstract
- Conflicts of interest
- Acknowledgments
- Introduction
- Developmental origins of PCOS
- Genetic architecture of PCOS
- Epigenetic modifications
- Concluding remarks
- References
- Chapter 21: Genetic basis of metabolism and inflammation in PCOS
- Abstract
- Introduction
- Clinical features of metabolism and inflammation in PCOS
- Fatty acid metabolism
- Bile acid metabolism
- Amino acid metabolism
- Systemic and ovarian inflammation in PCOS
- Conclusion
- References
- Chapter 22: Genetics and genomics of recurrent pregnancy loss
- Abstract
- Introduction to recurrent pregnancy loss
- Major role of chromosomal rearrangements in RPL
- Novel molecular and clinical insights from microarray-based studies
- Association studies of common genetic variants
- Exome sequencing—Maternal and fetal pathogenic variants with strong effect
- Genetic testing in RPL management: Current guidelines and discussion points
- Application of “OMICS” tools for RPL research
- Conclusion
- Glossary
- References
- Chapter 23: Genetics and genomics of endometriosis☆
- Abstract
- Acknowledgment
- Introduction
- Endometriosis as a genetic disease
- Endometriosis as an epigenetic disease
- Conclusions
- Glossary
- References
- Chapter 24: Human genetics and assisted reproduction in endometriosis
- Abstract
- Introduction
- Biomarkers in endometriosis
- The associations of blood trace metals and endometriosis
- The associations of phthalates and endometriosis
- The effects of phthalates on oocyte and embryo development
- Assisted reproductive technology (ART) in primary and recurrent endometriosis
- Assisted reproductive technology (ART) in adenomyosis
- Conclusion
- References
- Chapter 25: Uterus transplantation as an infertility treatment
- Abstract
- Financial support and sponsorship
- Conflict of interest
- Introduction
- Patients for uterus transplantation
- Live or deceased donor uterus transplantation
- Live donor uterus transplantation experience
- Deceased donor uterus transplantation experience
- Live donor hysterectomy by laparotomy
- Live donor hysterectomy by robotics
- Deceased donor hysterectomy
- Recipient surgery by laparotomy
- Recipient surgery by robotics
- Postoperative complications in recipient and live donors at uterus transplantation
- Efficacy of IVF and obstetrical outcomes in uterus transplantation
- IVF treatment before uterus transplantation
- IVF treatment after uterus transplantation
- Embryo transfer in uterus transplantation patients
- Reproductive and obstetrical outcomes after UTx
- References
- Chapter 26: Impacts of COVID-19 on reproductive health and prenatal genetics
- Abstract
- Acknowledgments
- Introduction
- Impact of COVID-19 on male reproduction
- Impact of COVID-19 on female reproduction
- Impact of the COVID-19 pandemic on prenatal genetic testing
- SARS-CoV-2 impact on societal perspectives
- Summary
- References
- Part IV: Preimplantation/prenatal genetic diagnosis and screening
- Chapter 27: Genomics in reproductive medicine: Current and future applications
- Abstract
- Introduction to technical advancements in genome analysis
- Definition of genomic medicine
- Genomic medicine and the quest for defining the continuum between genetic information and phenotypical traits
- Application of genomic medicine in reproduction
- Prevention of genetic conditions through expanded carrier screening
- Genomic medicine for infertility diagnosis
- Challenges to future expansion of reproductive genome medicine
- Conclusions
- References
- Chapter 28: Molecular cytogenomics of human genetic disorders
- Abstract
- Introduction
- Cytogenomics in the clinical laboratory
- Case-based vignettes
- At the forefront of cytogenomics
- References
- Chapter 29: Next-generation sequencing for gene panels, clinical exome, and whole-genome analysis
- Abstract
- Introduction
- High-throughput sequencing methods
- Diagnostic sequencing-based tests
- Clinical use of fetal genome-wide sequencing
- Genetic counseling for genome-wide sequencing
- Use of exome and genome sequencing in reproductive genetic research
- Conclusions
- Glossary
- References
- Chapter 30: Chromosomal microarrays and next-generation sequencing for diagnosis of fetal abnormalities
- Abstract
- Introduction
- Chromosomal microarray analysis
- Types of microarrays
- Microarray coverage
- Reporting and interpretation of CMA results
- Professional society CMA guidelines
- Clinical utility of CMA
- CMA in routine pregnancies
- CMA in pregnancies with ultrasound anomalies
- Benefits and limitations of CMA
- Prenatal whole-exome sequencing (WES)
- Sequencing technology and the exome/genome
- Clinical indications for WES
- Interpretation of WES results
- Reporting of WES results
- Clinical implications of prenatal WES results
- Pre- and posttest counseling for WES
- Future directions
- Conclusion
- References
- Chapter 31: Noninvasive prenatal testing for genetic diseases
- Abstract
- Introduction
- Invasive and noninvasive approaches of prenatal testing of genetic diseases
- The physical and biological characteristics of cell-free fetal nucleic acids
- Clinical application of fetal DNA
- Conclusion and outlook
- References
- Chapter 32: Noninvasive prenatal testing/screening by circulating cell-free DNA
- Abstract
- Introduction
- NIPS for fetal trisomy 21, 18, and 13
- Applications of cfDNA analysis: Exploring fetal health
- Causes for errors
- Applications of cfDNA analysis exploring maternal health
- Future prospects
- Conclusion
- References
- Chapter 33: Application of new technologies in embryos: From gene editing to synthetic embryos
- Abstract
- Introduction
- Gene editing technology
- Human-animal chimeras
- Synthetic embryology
- Organoids
- Future perspectives
- References
- Index
- No. of pages: 928
- Language: English
- Edition: 2
- Published: March 22, 2023
- Imprint: Academic Press
- Hardback ISBN: 9780323913805
- eBook ISBN: 9780323913812
PL
Peter C.K. Leung
Dr. Leung is a Professor at the University of British Columbia’s Department of Obstetrics & Gynecology and former Associate Dean in the Faculty of Medicine at UBC. Dr. Leung received his PhD from Western University. After post-doctoral training at the University of California at Los Angeles and the Laval University, he joined the University of British Columbia in 1982 as a faculty member. Dr. Leung has received a number of prestigious awards, including a Scholar Award and a Scientist Award from the Medical Research Council of Canada, a Distinguished Scholar Award from the Michael Smith Foundation for Health Research and a Senior Scientist Award from the BC Children Hospital Research Institute. Dr. Leung has served on many national and international organizations, including as President of the Canadian Fertility and Andrology Society, Director of the Society for the Study of Reproduction, Director of the Ovarian Workshops in the USA, temporary advisor to the World Health Organization, Fellow of the Canadian Academy for Health Sciences, and Fellow of the Royal Society of Canada. Dr. Leung’s research focuses on hormonal determinants of women’s reproductive health. His publication record to date includes 400 papers, 350 abstracts, 22 book chapters and 7 monographs. Since his appointment at UBC, Dr. Leung has served as the research supervisor for more than 100 graduate students, postdoctoral fellows and visiting scientists.
Affiliations and expertise
Professor, Department of Obstetrics and Gynecology, University of British Columbia, CanadaJQ
Jie Qiao
Dr. Jie Qiao is the Chief Scientist of the Ministry of Science and Technology of China, the Incumbent Director of the North Third Hospital Department of Obstetrics and Gynecology, the Chinese Medical Association branch chairman for Reproductive Medicine, and the Beijing Medical Association branch chairman for Reproductive Medicine. She has been engaged in reproductive health-related clinical and basic research throughout her career, including as a visiting scholar at the University of Hong Kong and as a post-doctoral researcher at Stanford University. Her research has focused on gametes fertilization, infertility and embryo implantation mechanisms, and polycystic ovary syndrome pathogenesis among other topics. Dr. Jie Qiao has published more than 250 paper publications in peer reviewed journals on topics related to reproductive health.
Affiliations and expertise
Chief Scientist of the Ministry of Science and Technology of China, the Incumbent Director of the North Third Hospital Department of Obstetrics and Gynecology, the Chinese Medical Association branch chairman for Reproductive Medicine, and the Beijing Medical Association branch chairman for Reproductive MedicineRead Human Reproductive and Prenatal Genetics on ScienceDirect