Handbook of Genetic Diagnostic Technologies in Reproductive Medicine (2^nd Ed.) Improving Patient Success Rates and Infant Health

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 the clinic, aiming to improve outcomes in the clinic and result in a healthy baby in the 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.

This expanded new edition covers the range of the latest genetic diagnostic technologies being translated into practice internationally to improve routine IVF procedures for the benefit of patients. Bringing together international experts to discuss their work, this text gives a context for the developments in this very fast-moving area of research and offers a comprehensive and rounded appraisal of hot topics.

Contributors. Preface. The Brave New World of Genomics. Genetics at the Cell Level: The Human Cell Atlas. The Genetic Risk of a Couple Aiming to Conceive. Carrier Screening for Single-Gene Disorders. Meiotic Abnormalities in Infertile Males. Chromosomal Analysis of Sperm. Epigenetics in Sperm, Epigenetic Diagnostics, and Transgenerational Inheritance. Aneuploidy in Human Oocytes and Preimplantation Embryos. Epigenetics from Oocytes to Embryos. Embryo Kinetics and Aneuploidy. Preimplantation Genetic Testing of Aneuploidies (PGT-A). Preimplantation Genetic Testing for Structural Rearrangements. Mosaicism in Preimplantation Embryos. Embryo Cell-Free DNA in the Culture Medium and Its Potential for Non-Invasive. Aneuploidy Testing. Mitochondria and Embryo Viability. Preimplantation Genetic Diagnosis for Single Gene Disorders. Preimplantation Genetic Testing for Polygenic Disorders. Should Genome Editing Replace Embryo Selection Following PGT. Molecular Diagnosis of Endometrial Receptivity. The Vaginal Microbiome. The Uterine Microbiota. Endometritis: New Times, New Opportunities. Decidualization Resistance: A New Condition Identified in Severe Preeclampsia. Advanced Cell Therapy for Asherman’s Syndrome. Differential Genetic Diagnosis between Leiomyoma and Leiomyosarcoma. Non-Invasive Prenatal Testing (NIPT). Advances in Non-Invasive Diagnosis of Single-Gene Disorders and Fetal Exome. Sequencing. Chromosome Abnormalities in Human Pregnancy Loss: A Review of Cytogenetic and Molecular Analyses. Products of Conception: Current Methodologies and Clinical Applications. Mother and Embryo Cross Communication during Conception. Perinatal and Pediatric Outcome of Pregnancies Following PGT-M/SR/A. Genetic Counseling in Assisted Reproductive Technology. Index.

Carlos Simón MD, PhDCSO is Full Professor of Obstetrics and Gynecology at the University of Valencia; Adjunct Clinical Professor, Department of Ob/Gyn, Stanford University School of Medicine, California, USA; Scientific Director of Instituto Valenciano de Infertilidad and IGENOMIX, Valencia, Spain.

Carmen Rubio, PhD is Head of the Preimplantation Genetic Diagnosis program for chromosomal disorders at IGENOMIX, Valencia, Spain.