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

Human Reproductive and Prenatal Genetics, Second Edition provides application-driven coverage of key topics in human reproductive and prenatal genetics, including genetic control u… 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.

Section I: Reproductive tract development and gametogenesis

1. Developmental genetics of the male reproductive system
Marisol O’Neill, Victor A. Ruthig, Meade Haller, Boryana Zhelyazkova, Jeffrey T. White, Nannan Thirumavalavan, and Dolores J. Lamb

2. Developmental genetics of the female reproductive tract
Jessica Garcia de Paredes, Michael Strug, Jordan Gosnell, Marcos Cordoba, and Jose M. Teixeira

3. Genetics and genomics of early gonad development
Fanghong Ou, Zhangting Wang, Jinyue Liao, Hoi-Ching Suen, Kai Kei Miu, and Wai-Yee Chan

4. Effects of aging on sperm chromatin
Heather E. Fice and Bernard Robaire

5. In vitro spermatogenesis from pluripotent stem cells
Jin Du, Qing-Qin Gao, Cheng Huang, Hai-Ping Jiang, Mo-Yu Dai, Yu-Fei Li, Jun Wu, and Qi Zhou

6. The molecular genetics of oogenesis
Fan Zhai, Xinyi Ma, Liying Yan, and Jie Qiao

7. Growth of the mammalian oocyte: Focus on intercellular contact and communication
Hugh J. Clarke

8. In vitro activation of ovarian follicles
Kazuhiro Kawamura
Section II: Embryo implantation, placenta development and pregnancy

9. Interaction of sperm and embryo with the female reproductive tract
Yin Lau Lee, Andy Chun Hang Chen, and William Shu Biu Yeung

10. MicroRNAs in gametes and preimplantation embryos: Clinical implications
Allison Tscherner, Nicholas Werry, Leanne Stalker, and Jonathan LaMarre

11. Epigenetic modifications in the human placenta
Wendy P. Robinson, Maria S. Pen˜ aherrera, Chaini Konwar, Victor Yuan, and Samantha L. Wilson

12. In vitro models of human blastocysts and early embryogenesis
Jia Ping Tan, Xiaodong Liu, and Jose M. Polo

13. microRNAs in pregnancy: Implications for basic research and clinical management
Peng Xu, Xuan Shao, Ming Liu, and Yan-Ling Wang

14. Human X-chromosome inactivation: Complexity and clinical implications
Maria Jose Navarro-Cobos, Karanveer Bhangu, and Carolyn J. Brown

15. The intergenerational effects on fetal programming
He-Feng Huang, Guo-Lian Ding, Xin-Yuan Li, Xin-Mei Liu, and Zi-Ru Jiang
Section III: Infertility and assisted reproductive technology

16. Theoretical and experimental strategies for preservation and restoration of male fertility
Ali Honaramooz

17. Update on the genetics and genomics of premature ovarian insufficiency
Elena J. Tucker, Sylvie Jaillard, and Andrew H. Sinclair

18. Premature ovarian insufficiency
Yingying Qin, Ting Guo, Shidou Zhao, and Zi-Jiang Chen

19. Genetics of polycystic ovary syndrome
Tristan Hardy, Alice P. Rogers, and Robert J. Norman

20. Developmental origins and genetic basis of polycystic ovary syndrome
T.M. Barber and S. Franks

21. Genetic basis of metabolism and inflammation in PCOS
Yanli Pang, Yue Zhao, and Jie Qiao

22. Genetics and genomics of recurrent pregnancy loss
Laura Kasak, Kristiina Rull, and Maris Laan

23. Genetics and genomics of endometriosis
Linda C. Giudice, Richard O. Burney, Christian M. Becker, Stacey A. Missmer, Grant Montgomery, Nilufer Rahmioglu, Peter A.W. Rogers, and Krina Zondervan

24. Human genetics and assisted reproduction in endometriosis
Ya-Ching Chou, Chien-Wen Chen, Endah Rahmawati, Guan-Lin Lai, Yun-Yi Ma, Yi-Xuan Lee, Ming-Jer Chen, and Chii-Ruey Tzeng

25. Uterus transplantation as an infertility treatment
Mats Brannstrom, Ali Khatibi, Ghada Hussein, and Pernilla Dahm-K€ahler

26. Impacts of COVID-19 on reproductive health and prenatal genetics
Peng Yuan, Zhiqiang Yan, Wei Wang, Yao Li, Qilong He, Fan Zhai, Liying Yan, and Jie Qiao
Section IV: Preimplantation/prenatal genetic diagnosis and screening

27. Genomics in reproductive medicine: Current and future applications
Maurizio Poli and Antonio Capalbo

28. Molecular cytogenomics of human genetic disorders
Zirui Dong, Kwong Wai Choy, and Cynthia C. Morton

29. Next-generation sequencing for gene panels, clinical exome, and whole-genome analysis
Matthew A. Shanahan, Liesbeth Vossaert, and Ignatia B. Van den Veyver

30. Chromosomal microarrays and next-generation sequencing for diagnosis of fetal abnormalities
Brynn Levy, Melissa Stosic, Jessica Giordano, Ronald Wapner, and Vimla Aggarwal

31. Noninvasive prenatal testing for genetic diseases
Stephanie C.Y. Yu, Jason C.H. Tsang, and Y.M. Dennis Lo

32. Noninvasive prenatal testing/screening by circulating cell-free DNA
Margot van Riel, Kate Stanley, and Joris R. Vermeesch

33. Application of new technologies in embryos: From gene editing to synthetic embryos
M. Martin-Inaraja, I. Romayor, L. Herrera, N. Montserrat, and C. Eguizabal

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, Canada

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 Medicine