What happens with our genome and epigenome in the first fundamental days of our development? How can this be analysed? What do we need to know when faced with patients' questions about their own infertility, or how to prevent the birth of affected children? For the first time, this book brings together both scientists' and clinicians' viewpoints on human reproductive genetics, making for a more comprehensive discussion of interest to ART professionals and developmental biologists. With worldwide leaders in this burgeoning field guiding the reader through from the basics to the most exciting recent discoveries, this book presents the wider picture of how reproductive medicine and biology links with genetics. The editors also address the new challenges raised in how to treat and counsel patients at fertility and genetic clinics, as well as eliciting vivid bioethical debates. This book brings together genetics, reproductive biology and medicine for practitioners and geneticists.
Foreword Joe Leigh Simpson; 1. Basic genetics and cytogenetics: a brief reminder Karen Sermon; 2. How to analyse a single blastomere? Application of whole-genome technologies: micro-arrays and next generation sequencing Parveen Kumar, Masoud Zamani Esteki, Niels van der Aa and Thierry Voet; 3. Meiosis: how to get a good start in life Ursula Eichenlaub-Ritter; 4. Chromosomes in early human embryo development: incidence of chromosomal abnormalities, underlying mechanisms and consequences for development E. B. Baart and D. Van Opstal; 5. DNA is not the whole story: transgenerational epigenesis and imprinting Ashwini Balakrishnan and J. Richard Chaillet; 6. Genes are not the whole story: retrotransposons as new determinants of male fertility Patricia Fauque and Déborah Bourc'his; 7. Chromosomal causes of infertility: the story continues Svetlana A. Yatsenko and Aleksandar Rajkovic; 8. Genes and infertility Inge Liebaers, Elias ElInati, Willy Lissens and Stéphane Viville; 9. Genetic counselling and gamete donation in assisted reproductive treatment Alison Lashwood and Alison Bagshawe; 10. Genetic testing for infertile patients Willem Verpoest; 11. Preimplantation genetic diagnosis Jan Traeger-Synodinos and Catherine Staessen; 12. Epigenetics and ART Aafke P. A. van Montfoort; 13. Ethical considerations in human reproductive genetics Guido de Wert and Wybo Dondorp; Index.