الصفحة 1
الصفحة 1
Genetic testing in reproductive medicine
Illustrates the importance and significance of molecular genetic testing in reproductive disorders. The present book covers the genetic testing in various reproductive system anomalies, including disorders of sexual development, male infertility (Y deletions, autosomal mutations, sperm DNA fragmentation), female infertility (PCOS and POF), mitochondrial DNA testing for oocyte quality, recurrent pregnancy loss, pre-term birth, endometrial receptivity, prenatal genetic screening, reproductive carrier screening, preimplantation genetic screening, endometrial cancer, cervical cancer and other related reproductive health disorders. Microbiome testing and its contribution to genetic testing in reproductive medicine are also discussed. Covers ethical, moral and technical challenges in genetic testing in reproductive medicine. The book aims to set up a standard with regard to genetic testing in the reproductive medicine field, encourage further data generation, and provide food for thought in the areas of lacunae.
Atlas of genetic diagnosis and counseling
Many birth defects, although rare individually, are encountered in clinical practice and have now become treatable if properly diagnosed. In the Atlas of Genetic Diagnosis and Counseling, Harold Chen, MD, shares his almost 40 years of clinical genetics practice in a comprehensive pictorial atlas of 203 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available.
