**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.
1. 1. Introduction to Perinatal Disorders and Reproductive Genetics - p. 1 2. Prenatal Screening for Neural Tube Defects and Aneuploidy - p. 9 3. 3. Techniques for Prenatal Diagnosis - p. 35 4. 4. Neonatal Screening - p. 57 5. 5. Hypogonadotropic and Hypergonadotropic Hypogonadism in Females: Disorders of Reproductive Ducts - p. 87 6. 6. Genetics of Male Infertility - p. 121 7. 7. The Genetics of Disorders Affecting the Premature Newborn - p. 174 8. Fetal Loss - p. 187 9. 9. Preeclampsia - p. 217 10. 10. Noninvasive Prenatal Testing and Noninvasive Prenatal Screening - p. 235 11. 11. Preimplantation Genetic Testing - p. 249 12. 12. Expanded Carrier Screening - p. 281 13. Index - p. 295
**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.
1. 1. Introduction to Perinatal Disorders and Reproductive Genetics - p. 1 2. Prenatal Screening for Neural Tube Defects and Aneuploidy - p. 9 3. 3. Techniques for Prenatal Diagnosis - p. 35 4. 4. Neonatal Screening - p. 57 5. 5. Hypogonadotropic and Hypergonadotropic Hypogonadism in Females: Disorders of Reproductive Ducts - p. 87 6. 6. Genetics of Male Infertility - p. 121 7. 7. The Genetics of Disorders Affecting the Premature Newborn - p. 174 8. Fetal Loss - p. 187 9. 9. Preeclampsia - p. 217 10. 10. Noninvasive Prenatal Testing and Noninvasive Prenatal Screening - p. 235 11. 11. Preimplantation Genetic Testing - p. 249 12. 12. Expanded Carrier Screening - p. 281 13. Index - p. 295
