Human Reproductive Genetics - 1st Edition - ISBN: 9780128165614

Human Reproductive Genetics

1st Edition

Emerging Technologies and Clinical Applications

Editors: Juan Garcia-Velasco Emre Seli
Paperback ISBN: 9780128165614
Imprint: Academic Press
Published Date: 1st May 2020
Page Count: 300
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Human Reproductive Genetics: Emerging Technologies and Clinical Applications presents a great reference for clinicians and researchers in reproductive medicine. Part I includes a brief background of genetics and epigenetics, probability of disease, and the different techniques that are being used today for analysis and genetic counseling. Part II focuses on the analysis of the embryo, current controversies and future concepts. Part III comprises different clinical scenarios that clinicians frequently face in practice. The increasing amount of genetic tests available and the growing information that patients handle makes this section a relevant part of the fertility treatment discussion.

Finally, Part IV concludes with the psychological aspects of genetic counseling and the role of counselor and bioethics in human reproduction.

Key Features

  • Provides an essential reference for clinicians involved in reproductive medicine
  • Builds foundational knowledge on new genetic tests coming into the clinical scenario for physicians involved with patients
  • Assembles critically evaluated chapters that cover basic concepts of genetics and epigenetics and the techniques involved, including preimplantation genetic testing, controversies, and more


Active researchers, basic and translational scientists, clinicians, and students in the areas of reproductive medicine, gynecology, obstetrics, andrology, embryology, endocrinology human genetics, genomics, bioinformatics, prenatal testing, and genetic testing; genetic counselors; bioethicists; fertility specialists

Table of Contents

  1. Fundamentals of Genetics
    1. Basic genetics (mitosis, meiosis. Chromosomes, DNA, RNA and beyond) (Sonia Herraiz, IVI Foundation, Spain)
    2. Identification of genetic causes of gynecologic disorders (Maria Lalioti, Yale University, USA)
    3. Techniques
      1. Biochemistry (Jose Leigh Simpson, Florida International University, USA)
      2. Cytogenetics (Karen Shermon, Free University, Brussels)
      3. Molecular biology and whole genome (microarrays, NGS, karyomapping…) (Lluis Armengol , QGenomics, Spain)

    4. Epigenetics and imprinting in ART (Emre Seli, Yale University, USA)
    5. Introduction to genetic counseling (Josep Pla, IVI RMA, Spain)

  2. How to analyze an embryo
    1. PGT-A (PB, day 3, day 5…) (Jason Franasiak, IVI RMA New Jersey, USA)
    2. PGT-M (Ana Cervero and Julio Martin, iGenomix, SPain)
    3. Mosaics (Richard Scott, IVI RMA New Jersey, USA)
    4. Future technologies (Dagan Wells, Oxford University, UK)

  3. Clinical scenarios
    1. POF and genetics (Alexandar Rajkovic, Univ of Pittsburg, USA)
    2. Endometriosis and genetics (Krina Zondervan, Oxford University, UK)
    3. PCO and genetics (Didier Dewailly, Lille, France)
    4. Genetics and epigenetics of male factor infertility (Jim Hotaling, Utah University, USA)
    5. Mitochondria and genetics (Elpida Fragouli, Oxford University, UK)
    6. Endometrial receptivity and genetics (Carlos Simon, Valencia University, Spain)
    7. Reproductive aging and genetics (Elisa Varela and Juan Garcia-Velasco, IVI RMA Madrid, Spain)
    8. Prenatal testing (Vicente Serra, Valencia University, Spain)
    9. Carrier tests (Miguel del Campo, UCSD, USA)

  4. Reproductive Genetic Counselling
    1. Counselling – psychology in genetics (Alice Domar, Harvard University, USA)
    2. Bioethics in human reproduction (Guido Pennings, Ghent, Brussels)
    3. The role of genetic counselling in the infertile patient (Josep Pla, IVI RMA Spain)


No. of pages:
© Academic Press 2020
1st May 2020
Academic Press
Paperback ISBN:

About the Editor

Juan Garcia-Velasco

Dr. García‐Velasco, MD, PhD, is Director of IVI Madrid. He is also a Full Professor of Obstetrics and Gynecology at Rey Juan Carlos University, Madrid, Spain, where he is Director of their Master’s Degree Program in Human Reproduction. He graduated from University Medical School, Madrid, in 1990 and received his Obstetrics and Gynecology certification from La Paz Hospital, Madrid, in 1995. 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 Principal Investigator of projects funded by the Ministry of Education and Ministry of Health, Spain, and has received awards from the Spanish Fertility Society, Spanish Society of Obstetrics and Gynecology, and the European Society of Human Reproduction and Embryology. He has published over 200 peer‐reviewed articles as well as 22 book chapters on human reproduction, endometriosis and hypo‐ and hyper‐ovarian stimulation response and is the author/editor of several books.

Affiliations and Expertise

Professor of Obstetrics and Gynecology, Rey Juan Carlos University, Madrid, Spain and Director of IVI RMA

Emre Seli

Dr. Seli is Professor of Obstetrics, Gynecology, and Reproductive Sciences at Yale School of Medicine. 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, his primary focus is to understand and treat infertility. His laboratory characterized 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 competence in IVF and the potential role of non-invasive diagnostic technologies in this context. Dr. Seli is the recipient of many National Institutes of Health (NIH) and pharmaceutical industry-sponsored research grants.

Affiliations and Expertise

Professor of Obstetrics and Gynecology, Yale University, New Haven, CT, USA

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