Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics

Perinatal and Reproductive Genetics

Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody

• Publisher: Academic Press
• Year: 2021
• Print ISBN:
  9780128152362
• eBook ISBN:
  9780128152379
• Edition: 7
• Topic: Scienze biologiche
• Subtopic: Genetica e genomica

**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

• Title of Book
• Cover image
• Title page
• Table of Contents
• Copyright
• LIST OF Contributors
• Preface to the Seventh Edition of Emery and RIMOIN’S Principles and Practice of Medical Genetics and Genomics
• Preface to Perinatal and Reproductive Genetics
• 1 Introduction to Perinatal Disorders and Reproductive Genetics
• 2 Prenatal Screening for Neural Tube Defects and Aneuploidy
• 3 Techniques for Prenatal Diagnosis
• 4 Neonatal Screening
• 5 Hypogonadotropic and Hypergonadotropic Hypogonadism in Females: Disorders of Reproductive Ducts
• 6 Genetics of Male Infertility
• 7 The Genetics of Disorders Affecting the Premature Newborn
• 8 Fetal Loss
• 9 Preeclampsia
• 10 Noninvasive Prenatal Testing and Noninvasive Prenatal Screening
• 11 Preimplantation Genetic Testing
• 12 Expanded Carrier Screening
• Index