Description
**Selected for Doody's Core Titles® 2024 in Clinical Genetics** Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies in this growing field. The book is ideal for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive, yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly.Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies.- Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications- Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies- Includes color images that support the identification, concept illustration, and method of processing- Features contributions by leading international researchers and practitioners of medical genetics- Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field
Table of Contents
1 Introduction to Perinatal Disorders and Reproductive GeneticsSusan J. Gross 2 Prenatal Screening for Neural Tube Defects and Aneuploidy Robert G. Best 3 Techniques for Prenatal DiagnosisLee P. Shulman, Jeffrey S. Dungan and Andrew F. Wagner 4 Neonatal ScreeningInderneel Sahai and Richard W. Erbe 5 Hypogonadotropic and Hypergonadotropic Hypogonadism in Females: Disorders of Reproductive DuctsJoe Leigh Simpson 6 Genetics of Male Infertility Csilla Krausz, Viktoria Rosta, Ronald S. Swerdloff and Christina Wang 7 The Genetics of Disorders Affecting the Premature NewbornAaron R. Prosnitz, Jeffrey R. Gruen and Vineet Bhandari 8 Fetal Loss Rhona Schreck, John Paul Govindavari and John Williams III 9 PreeclampsiaAnthony R. Gregg 10 Noninvasive Prenatal Testing and Noninvasive Prenatal ScreeningCharles M. Strom 11 Preimplantation Genetic TestingSvetlana A. Yatsenko and Aleksandar Rajkovic 12 Expanded Carrier Screening Ronald J. Wapner, Katie Johansen Taber, Gabriel Lazarin and James D. Goldberg
