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Get a quick, expert overview of the fast-changing field of perinatal genetics with this concise, practical resource. Drs. Mary Norton, Jeffrey A. Kuller, Lorraine Dugoff, and George Saade fully cover the clinically relevant topics that are key to providers who care for pregnant women and couples contemplating pregnancy. It’s an ideal resource for Ob/Gyn physicians, maternal-fetal medicine specialists, and clinical geneticists, as well as midwives, nurse practitioners, and other obstetric providers.

  • Provides a comprehensive review of basic principles of medical genetics and genetic counseling, molecular genetics, cytogenetics, prenatal screening options, chromosomal microarray analysis, whole exome sequencing, prenatal ultrasound, diagnostic testing, and more.
  • Contains a chapter on fetal treatment of genetic disorders.
  • Consolidates today’s available information and experience in this important area into one convenient resource.

1. Perinatal Genetics - p. i 2. Cover - p. i 3. Front Matter - p. ii 4. Table of Contents - p. iii 5. Copyright - p. iv 6. List of Contributors - p. iv 7. The Rapidly Evolving World of Perinatal Genetics - p. vii 8. Acknowledgements - p. viii 9. List of Illustrations - p. ix 10. List of Tables - p. x 11. Chapter 1 : Principles of Genetics and Genomics - p. 1 12. Chapter 2 : Non-Mendelian Genetics - p. 11 13. Chapter 3 : Principles of Genetic Counseling - p. 21 14. Chapter 4 : Cytogenetics: Part 1, General Concepts and Aneuploid Conditions - p. 27 15. Chapter 5 : Cytogenetics: Part 2, Structural Chromosome Rearrangements and Reproductive Impact - p. 39 16. Chapter 6 : Molecular Genetics - p. 49 17. Chapter 7 : Carrier Screening for Genetic Conditions - p. 63 18. Chapter 8 : Serum and Ultrasound Based Screening Tests for Aneuploidy - p. 75 19. Chapter 9 : Cell-Free DNA Screening - p. 85 20. Chapter 10 : Ultrasound Markers for Aneuploidy in the Second Trimester - p. 95 21. Chapter 11 : Genetic Evaluation of Fetal Sonographic Abnormalities - p. 105 22. Chapter 12 : Chromosomal Microarray Analysis - p. 125 23. Chapter 13 : Exome and Genome Sequencing - p. 137 24. Chapter 14 : Prenatal Diagnostic Testing - p. 149 25. Chapter 15 : Preimplantation Genetic Testing - p. 161 26. Chapter 16 : Fetal Treatment of Genetic Disorders - p. 175 27. Index - p. 187

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Descripción

Get a quick, expert overview of the fast-changing field of perinatal genetics with this concise, practical resource. Drs. Mary Norton, Jeffrey A. Kuller, Lorraine Dugoff, and George Saade fully cover the clinically relevant topics that are key to providers who care for pregnant women and couples contemplating pregnancy. It’s an ideal resource for Ob/Gyn physicians, maternal-fetal medicine specialists, and clinical geneticists, as well as midwives, nurse practitioners, and other obstetric providers.

  • Provides a comprehensive review of basic principles of medical genetics and genetic counseling, molecular genetics, cytogenetics, prenatal screening options, chromosomal microarray analysis, whole exome sequencing, prenatal ultrasound, diagnostic testing, and more.
  • Contains a chapter on fetal treatment of genetic disorders.
  • Consolidates today’s available information and experience in this important area into one convenient resource.

1. Perinatal Genetics - p. i 2. Cover - p. i 3. Front Matter - p. ii 4. Table of Contents - p. iii 5. Copyright - p. iv 6. List of Contributors - p. iv 7. The Rapidly Evolving World of Perinatal Genetics - p. vii 8. Acknowledgements - p. viii 9. List of Illustrations - p. ix 10. List of Tables - p. x 11. Chapter 1 : Principles of Genetics and Genomics - p. 1 12. Chapter 2 : Non-Mendelian Genetics - p. 11 13. Chapter 3 : Principles of Genetic Counseling - p. 21 14. Chapter 4 : Cytogenetics: Part 1, General Concepts and Aneuploid Conditions - p. 27 15. Chapter 5 : Cytogenetics: Part 2, Structural Chromosome Rearrangements and Reproductive Impact - p. 39 16. Chapter 6 : Molecular Genetics - p. 49 17. Chapter 7 : Carrier Screening for Genetic Conditions - p. 63 18. Chapter 8 : Serum and Ultrasound Based Screening Tests for Aneuploidy - p. 75 19. Chapter 9 : Cell-Free DNA Screening - p. 85 20. Chapter 10 : Ultrasound Markers for Aneuploidy in the Second Trimester - p. 95 21. Chapter 11 : Genetic Evaluation of Fetal Sonographic Abnormalities - p. 105 22. Chapter 12 : Chromosomal Microarray Analysis - p. 125 23. Chapter 13 : Exome and Genome Sequencing - p. 137 24. Chapter 14 : Prenatal Diagnostic Testing - p. 149 25. Chapter 15 : Preimplantation Genetic Testing - p. 161 26. Chapter 16 : Fetal Treatment of Genetic Disorders - p. 175 27. Index - p. 187

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