[Annotatie]: The sixth edition of this well established, world leading text is the definitive reference work on prenatal diagnosis of genetic disorders. The contents have been fully updated to reflect the most current advances in research and clinical care and include the major changes in the cytogenetics of prenatal diagnosis. .[Inhoudsopgave]: 1. Genetic Counseling: Preconception, Prenatal, and Perinatal. 2. Amniocentesis and Fetal Blood Sampling. 3. Amniotic Fluid. 4. Amniotic Fluid Cell Culture. 5. Prenatal Genetic Diagnosis through Chorionic Villus Sampling. 6. Prenatal Diagnosis of Chromosomal Abnormalities through Amniocentesis. 7. Prenatal Diagnosis of Sex Chromosome Abnormalities. 8. Molecular Cytogenetics and Prenatal Diagnosis. 9. Prenatal Diagnosis of the Fragile X Syndrome. 10. Prenatal Diagnosis by Microarray Analysis. 11. Molecular Genetics and Prenatal Diagnosis. 12. Prenatal Diagnosis of Disorders of Lipid Metabolism. . 13. Prenatal Diagnosis of Peroxisomal and Related Fatty Acid Oxidation Disorders. 14. Prenatal Diagnosis of the Mucopolysaccaridoses and Postnatal Enzyme Replacement Therapy. 15. Disorders of the Metabolism of Amino Acids and Related Compounds. 16. Prenatal Diagnosis of Disorders of Carbohydrate Metabolism. 17. Prenatal Diagnosis of Cystic Fibrosis. 18. Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia. 19. Prenatal Diagnosis of Miscellaneous Biochemical Disorders. 20. Prenatal Diagnosis of Primary Immunodeficiency Diseases. 21. Prenatal Diagnosis of the Hemoglobinopathies. 22. Prenatal Diagnosis of Connective Tissue Disorders. 23. Maternal Serum Screening for Neural Tube and Other Defects. 24. Multimarker Maternal Serum Screening for Chromosomal Abnormalities. 25. Prenatal Diagnosis of Fetal Malformations by Ultrasound. 26. Prenatal Diagnosis and Management of Abnormal Fetal Development in the Third Trimester of Pregnancy. 27. Prenatal Diagnosis by Fetal Magnetic Resonance Imaging. 28. Induced Abortion for Genetic Indications: Techniques and Complications. 29. Preimplantation Genetic Diagnosis. 30. Prenatal Diagnosis through the Analysis of Fetal Cells and Cell Free Nucleic Acids in the Maternal Circulation. . 31. Fetal Therapy. 32. Prenatal Diagnosis of Fetal Infection. 33. Medicolegal Aspects of Prenatal Diagnosis. 34 Social, Legal and Public Policy Issues in Prenatal Genetic Diagnosis. 35. Ethical Issues in the Diagnosis and Management of Genetic Disorders in the Fetus
Inhoudsopgave:
Preface. Acknowledgments. List of Contributors. 1 Genetic Counseling: Preconception, Prenatal and Perinatal ( Aubrey Milunsky and Jeff M. Milunsky ). 2 Amniocentesis and Fetal Blood Sampling ( Sherman Elias ). 3 Amniotic Fluid ( Aubrey Milunsky ). 4 Amniotic Fluid Cell Culture ( Daniel L. van Dyke ). 5 Prenatal Genetic Diagnosis through Chorionic Villus Sampling ( Giovanni Monni, Rosa Maria Ibba and Maria Angelica Zoppi ). 6 Prenatal Diagnosis of Chromosomal Abnormalities through Amniocentesis ( Peter A. Benn ). 7 Prenatal Diagnosis of Sex Chromosome Abnormalities ( Jeff M. Milunsky ). 8 Molecular Cytogenetics and Prenatal Diagnosis ( Stuart Schwartz ). 9 Prenatal Diagnosis and the Spectrum of Involvement from Fragile X Mutations ( Randi Hagerman, Vivien Narcisa and Paul Hagerman ). 10 Prenatal Diagnosis by Microarray Analysis ( Joris Robert Vermeesch ). 11 Molecular Genetics and Prenatal Diagnosis ( John A. Phillips III ). 12 Prenatal Diagnosis of Disorders of Lipid Metabolism ( Bryan G. Winchester ). 13 Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Defi ciencies ( Ronald J.A. Wanders ). 14 Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy ( John J. Hopwood ). 15 Disorders of the Metabolism of Amino Acids and Related Compounds ( Vivian E. Shih and Roseann Mandell ). 16 Prenatal Diagnosis of Disorders of Carbohydrate Metabolism ( Yuan-Tsong Chen and Deeksha S. Bali ). 17 Prenatal Diagnosis of Cystic Fibrosis ( Gerald L. Feldman and Kristin G. Monaghan ). 18 Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia ( Phyllis W. Speiser ). 19 Prenatal Diagnosis of Miscellaneous Biochemical Disorders ( David S. Rosenblatt and David Watkins ). 20 Prenatal Diagnosis of Primary Immunodefi ciency Diseases ( Jennifer M. Puck ). 21 Prenatal Diagnosis of the Hemoglobinopathies ( John M. Old ). 22 Prenatal Diagnosis of Disorders of Bone and Connective Tissue ( Andrea Superti-Furga and Sheila Unger ). 23 Maternal Serum Screening for Neural Tube and Other Defects ( Aubrey Milunsky and Jacob A. Canick ). 24 Multi-Marker Maternal Serum Screening for Chromosomal Abnormalities ( Howard S. Cuckle and Peter A. Benn ). 25 Prenatal Diagnosis of Fetal Malformations by Ultrasound ( Yves G. Ville and Durata Nowakowska ). 26 Prenatal Diagnosis and Management of Abnormal Fetal Development with Emphasis on the Third Trimester of Pregnancy ( Juriy W. Wladimiroff and Titia E. Cohen-Overbeek ). 27 Prenatal Diagnosis by Fetal Magnetic Resonance Imaging ( Nadine Girard and Kathia Chaumoitre ). 28 Induced Abortion for Genetic Indications: Techniques and Complications ( Lee P. Shulman ). 29 Preimplantation Genetic Diagnosis ( Yury Verlinsky* and Anver Kuliev ). 30 Prenatal Diagnosis through Analysis of Intact Fetal Cells and Cell-Free Nucleic Acids in the Maternal Circulation ( Diana W. Bianchi and Y.M. Dennis Lo ). 31 Fetal Therapy ( Diana L. Farmer, Hammin Lee, Elizabeth Gress, Aubrey Milunsky and Michael R. Harrison ). 32 Prenatal Diagnosis of Fetal Infection ( Yves Ville and Guillaume Benoist ). 33 Medicolegal Aspects of Prenatal Diagnosis ( Ellen Wright Clayton and Mary Z. Pelias ). 34 Prenatal and Preimplantation Diagnosis: International Policy Perspectives ( Bartha Maria Knoppers and Thu Minh Nguyen ). 35 Ethical Issues in the Diagnosis and Management of Genetic Disorders in the Fetus ( Frank A. Chervenak and Laurence B. McCullough ). Appendix, Prenatal Diagnosis of Additional Miscellaneous Genetic Disorders ( Aubrey Milunsky ). Index. Color plate. * Deceased.
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