A basic understanding of human genetics is vital for all those working in the field of assisted human reproduction. Genetic makeup can hamper reproduction and insight into this is making genetic diagnosis and counselling increasingly important. This fully updated textbook continues the clear structure of the original edition, beginning with a chapter on the basics of genetics and cytogenetics. Genetic causes of infertility and the effect of epigenetics and transposons on fertility are discussed in detail. Several new chapters are included in this edition, reflecting the advances of the field, including preconception genetic analysis and screening in IVF and mitochondrial genetics. Combining genetics, reproductive biology and medicine, this is an essential text for practitioners in reproductive medicine and geneticists involved in the field looking to improve their knowledge of the subject and provide outstanding patient care.
Presents a fully comprehensive discussion of this subject, from the basics of genetics to the recent discoveries of chromosomal and monogenic causes of infertility and epigenetic effects in ART as well as covering ethical debates
Combines genetics and reproductive biology in one practical resource relevant to both practitioners in reproductive medicine and geneticists involved in the field looking to improve their knowledge of the field and provide outstanding patient care
Written by an outstanding cohort of international experts in the field
Author(s): Karen D. Sermon, Stéphane Viville
Edition: 2
Publisher: Cambridge University Press
Year: 2023
Language: English
Commentary: TRUE PDF, NO BOOKMARKS
Tags: Human Reproductive Genetics; Embryology; Reproductive Medicine & Technology; Gynecology & Obstetrics
List of Contributors vii 1 Basic Genetics and Cytogenetics: A Brief Reminder 1 Karen D. Sermon 2 Application of Whole-Genome Technologies to Assisted Reproductive Treatment 16 Elia Fernandez Gallardo, Thomas Lefevre, Koen Theunis, and Thierry Voet 3 Meiosis: How to Get a Good Start in Life 31 Ursula Eichenlaub-Ritter 4 Chromosomes in Early Human Embryo Development: Incidence of Chromosomal Abnormalities, Underlying Mechanisms, and Consequences for Diagnosis and Development 48 Esther B. Baart, Effrosyni A. Chavli, and Diane Van Opstal 5 DNAIsNot the Whole Story: Transgenerational Epigenesis and Imprinting 68 Ashwini Balakrishnan and J. Richard Chaillet 6 Genes Are Not the Whole Story: Retrotransposons as New Determinants of Male Fertility 83 Patricia Fauque and Déborah Bourc’his 7 Chromosomal Causes of Infertility 99 Svetlana A. Yatsenko and Aleksandar Rajkovic bli h d li b C b id i 8 Genetics of Human Male Infertility: The Quest for Diagnosis and Treatment 116 Stéphane Viville and Özlem Okutman 9 Genetics of Human Female Infertility 132 Svetlana A. Yatsenko and Aleksandar Rajkovic 10 Preconception Genetics Analysis/Screening in IVF 142 Juan José Guillén and Rita Vassena 11 Genetic Counseling in Assisted Reproductive Treatment 155 Christine de Die-Smulders and Ron van Golde 12 Mitochondrial Genetics in Reproductive Medicine 169 Claudia Spits and Filippo Zambelli 13 Preimplantation Genetic Testing 185 Jan Traeger-Synodinos and Carmen Rubio 14 Epigenetics and Assisted Reproductive Technology 202 Aafke P.A. van Montfoort 15 Human Reproductive Genetics in Medically Assisted Reproduction: Ethical Considerations 219 Guido de Wert and Wybo Dondorp Index 237
