Different genetic diagnostic and treatment options are used worldwide to improve routine IVF procedures for the benefit of patients. This handbook updates the new genetic diagnostic technologies that have been translated to practice aiming to improve outcomes in the clinic and have a healthy baby at home. Chapters cover the use of genetic technologies in a personalized manner to unravel the possible genetic risks for the couple wishing to conceive, in terms of sperm, the embryo, the endometrium, miscarriage, and finally the fetus.
Table of Contents
Foreword: Views from a Pioneer. Carrier screening for single gene disorder. Meiotic abnormalities in infertile males. Chromosomal analysis of sperm. DNA Fragmentation in sperm: Does it matter? Aneuploidy in human oocytes and preimplantation embryos. Preimplantation genetic diagnosis for aneuploidy: All you need to know. Mitochondria and embryo viability. Preimplantation genetic diagnosis for single gene disorders. Molecular diagnosis of endometrial receptivity. Chromosome abnormalities in human pregnancy wastage: A review of cytogenetic and molecular analyses. Products of conception: Current methodologies and clinical applications. Non-invasive prenatal testing for aneuploidy and beyond. Obstacles to implementing new technology. Dynamics and ethics of reproductive genetics. Index
Carlos Simón is a Spanish reproductive endocrinologist and researcher. He is board certified and full professor of obstetrics and gynecology at the University of Valencia, Valencia, Spain; adjunct clinical professor, Department of Ob/Gyn, Stanford University School of Medicine, Stanford, CA; adjunct professor, Department of Ob/ Gyn, Baylor College of Medicine, Houston, TX; and scientific director of Igenomix.
He has published 412 papers in peer-reviewed journals with an accumulated impact factor of 1,827.122, cited 14,355 times with an average of 35 citations/paper. His H-Index is 66.
He is the editor of 18 books in English, Spanish, and Portuguese, and the quality of his work has been recognized with awards by the American Society of Reproductive Medicine, the Society for Gynecological Investigation, the Spanish Society of Obstetrics & Gynecology, and the Spanish Fertility Society. He received the Prize Jaime I in Medical Investigation in 2011, and the ASRM Distinguished Research Award in 2016.
Carmen Rubio was trained in science and biochemistry at the University of Valencia, Valencia, Spain, and has a background in human embryology. She completed her PhD in 2004 in the field of reproductive genetics specializing in cytogenetic studies in gametes and embryos.
Becoming interested in chromosomal abnormalities in human embryos, she did her post-doctoral research in male and female meiosis and the mechanism underlying human aneuploidy at the laboratory of Drs. Patricia Hunt and Terry Hassold at the School of Molecular Biosciences (Washington State University, Pullman, WA).
At present, she is focused on embryo genetics and preimplantation embryo testing at Igenomix (Valencia, Spain). She has published more than 100 papers in the main peer-reviewed specialist journals in the field, book chapters, as well as numerous lectures at conferences worldwide. She is one of the most cited authors in the field, with more than 25 years professional experience.