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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. Page i 2. Cover - p. Page i 3. Front Matter - p. Page ii 4. Table of Contents - p. Page iii 5. Copyright - p. Page iv 6. List of Contributors - p. Page iv 7. The Rapidly Evolving World of Perinatal Genetics - p. Page vii 8. Acknowledgements - p. Page viii 9. List of Illustrations - p. Page ix 10. List of Tables - p. Page x 11. Chapter 1 : Principles of Genetics and Genomics - p. Page x 12. Chapter 2 : Non-Mendelian Genetics - p. Page 10 13. Chapter 3 : Principles of Genetic Counseling - p. Page 18 14. Chapter 4 : Cytogenetics: Part 1, General Concepts and Aneuploid Conditions - p. Page 25 15. Chapter 5 : Cytogenetics: Part 2, Structural Chromosome Rearrangements and Reproductive Impact - p. Page 38 16. Chapter 6 : Molecular Genetics - p. Page 48 17. Chapter 7 : Carrier Screening for Genetic Conditions - p. Page 60 18. Chapter 8 : Serum and Ultrasound Based Screening Tests for Aneuploidy - p. Page 73 19. Chapter 9 : Cell-Free DNA Screening - p. Page 81 20. Chapter 10 : Ultrasound Markers for Aneuploidy in the Second Trimester - p. Page 92 21. Chapter 11 : Genetic Evaluation of Fetal Sonographic Abnormalities - p. Page 101 22. Chapter 12 : Chromosomal Microarray Analysis - p. Page 119 23. Chapter 13 : Exome and Genome Sequencing - p. Page 135 24. Chapter 14 : Prenatal Diagnostic Testing - p. Page 146 25. Chapter 15 : Preimplantation Genetic Testing - p. Page 156 26. Chapter 16 : Fetal Treatment of Genetic Disorders - p. Page 172 27. Index - p. Page 181

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Descripcion
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. Page i 2. Cover - p. Page i 3. Front Matter - p. Page ii 4. Table of Contents - p. Page iii 5. Copyright - p. Page iv 6. List of Contributors - p. Page iv 7. The Rapidly Evolving World of Perinatal Genetics - p. Page vii 8. Acknowledgements - p. Page viii 9. List of Illustrations - p. Page ix 10. List of Tables - p. Page x 11. Chapter 1 : Principles of Genetics and Genomics - p. Page x 12. Chapter 2 : Non-Mendelian Genetics - p. Page 10 13. Chapter 3 : Principles of Genetic Counseling - p. Page 18 14. Chapter 4 : Cytogenetics: Part 1, General Concepts and Aneuploid Conditions - p. Page 25 15. Chapter 5 : Cytogenetics: Part 2, Structural Chromosome Rearrangements and Reproductive Impact - p. Page 38 16. Chapter 6 : Molecular Genetics - p. Page 48 17. Chapter 7 : Carrier Screening for Genetic Conditions - p. Page 60 18. Chapter 8 : Serum and Ultrasound Based Screening Tests for Aneuploidy - p. Page 73 19. Chapter 9 : Cell-Free DNA Screening - p. Page 81 20. Chapter 10 : Ultrasound Markers for Aneuploidy in the Second Trimester - p. Page 92 21. Chapter 11 : Genetic Evaluation of Fetal Sonographic Abnormalities - p. Page 101 22. Chapter 12 : Chromosomal Microarray Analysis - p. Page 119 23. Chapter 13 : Exome and Genome Sequencing - p. Page 135 24. Chapter 14 : Prenatal Diagnostic Testing - p. Page 146 25. Chapter 15 : Preimplantation Genetic Testing - p. Page 156 26. Chapter 16 : Fetal Treatment of Genetic Disorders - p. Page 172 27. Index - p. Page 181

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