Handbook of Genetic Diagnostic Technologies in Reproductive Medicine

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.

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.