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.
Contents: فهرست فصول
1 Introduction to Perinatal Disorders and Reproductive GeneticsSusan J. Gross2 Prenatal Screening for Neural Tube Defects and AneuploidyRobert G. Best3 Techniques for Prenatal DiagnosisLee P. Shulman, Jeffrey S. Dungan and Andrew F. Wagner4 Neonatal ScreeningInderneel Sahai and Richard W. Erbe5 Hypogonadotropic and Hypergonadotropic Hypogonadism in Females: Disorders of Reproductive DuctsJoe Leigh Simpson6 Genetics of Male InfertilityCsilla Krausz, Viktoria Rosta, Ronald S. Swerdloff and Christina Wang7 The Genetics of Disorders Affecting the Premature NewbornAaron R. Prosnitz, Jeffrey R. Gruen and Vineet Bhandari8 Fetal LossRhona Schreck, John Paul Govindavari and John Williams III9 PreeclampsiaAnthony R. Gregg10 Noninvasive Prenatal Testing and Noninvasive Prenatal ScreeningCharles M. Strom11 Preimplantation Genetic TestingSvetlana A. Yatsenko and Aleksandar Rajkovic12 Expanded Carrier ScreeningRonald J. Wapner, Katie Johansen Taber, Gabriel Lazarin and James D. Goldberg