دانلود کتاب Genetic Disorders and the Fetus, Sixth Edition

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Brand new edition of the world's leading text on prenatal diagnosis

This 6^th Edition of Genetic Disorders and the Fetus maintains it's pre-eminence as the major repository of facts about prenatal diagnosis. It provides a critical analysis and synthesis of established and new knowledge based on the long experience of authorities in their respective fields. A broad international perspective is presented through authoritative contributions from authors in 11 countries. All chapters and guidelines have been updated to reflect contemporary practice. New chapters have been introduced on:

• The use of chromosomal microarrays in prenatal diagnosis
• The social, legal and public policy issues with special reference to international approaches
• The important peroxisomal and related fatty acid oxidation disorders

Extensive tables and clear illustrations assist in differential diagnosis, gene identification and diagnostic modes. The recognition of many new and unresolved challenges should provide inspiration for novel research initiatives. The guidance provided and the insights and perspectives of these authors make this volume a valuable and indispensable resource for all whose focus is securing fetal health through prenatal diagnosis.

Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment is an essential resource for all engaged in prenatal genetic diagnosis, especially obstetricians, maternal-fetal medicine specialists, medical geneticists, genetic counsellors, and pediatricians, but also many other specialties.Content:
Chapter 1 Genetic Counseling: Preconception, Prenatal and Perinatal (pages 1–62): Aubrey Milunsky and Jeff M. Milunsky
Chapter 2 Amniocentesis and Fetal Blood Sampling (pages 63–93): Sherman Elias
Chapter 3 Amniotic Fluid (pages 94–137): Aubrey Milunsky
Chapter 4 Amniotic Fluid Cell Culture (pages 138–159): Daniel L. van Dyke
Chapter 5 Prenatal Genetic Diagnosis through Chorionic Villus Sampling (pages 160–193): Giovanni Monni, Rosa Maria Ibba and Maria Angelica Zoppi
Chapter 6 Prenatal Diagnosis of Chromosomal Abnormalities through Amniocentesis (pages 194–272): Peter A. Benn
Chapter 7 Prenatal Diagnosis of Sex Chromosome Abnormalities (pages 273–312): Jeff M. Milunsky
Chapter 8 Molecular Cytogenetics and Prenatal Diagnosis (pages 313–348): Stuart Schwartz
Chapter 9 Prenatal Diagnosis and the Spectrum of Involvement from Fragile X Mutations (pages 349–364): Randi Hagerman, Vivien Narcisa and Paul Hagerman
Chapter 10 Prenatal Diagnosis by Microarray Analysis (pages 365–379): Joris Robert Vermeesch
Chapter 11 Molecular Genetics and Prenatal Diagnosis (pages 380–444): John A. Phillips
Chapter 12 Prenatal Diagnosis of Disorders of Lipid Metabolism (pages 445–488): Bryan G. Winchester
Chapter 13 Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies (pages 489–494): Ronald J. A. Wanders
Chapter 14 Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy (pages 495–513): John J. Hopwood
Chapter 15 Disorders of the Metabolism of Amino Acids and Related Compounds (pages 514–553): Vivian E. Shih and Roseann Mandell
Chapter 16 Prenatal Diagnosis of Disorders of Carbohydrate Metabolism (pages 554–576): Yuan?Tsong Chen and Deeksha S. Bali
Chapter 17 Prenatal Diagnosis of Cystic Fibrosis (pages 577–599): Gerald L. Feldman and Kristin G. Monaghan
Chapter 18 Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia (pages 600–613): Phyllis W. Speiser
Chapter 19 Prenatal Diagnosis of Miscellaneous Biochemical Disorders (pages 614–627): David S. Rosenblatt and David Watkins
Chapter 20 Prenatal Diagnosis of Primary Immunodeficiency Diseases (pages 628–645): Jennifer M. Puck
Chapter 21 Prenatal Diagnosis of the Hemoglobinopathies (pages 646–679): John M. Old
Chapter 22 Prenatal Diagnosis of Disorders of Bone and Connective Tissue (pages 680–704): Andrea Superti?Furga and Sheila Unger
Chapter 23 Maternal Serum Screening for Neural Tube and Other Defects (pages 705–770): Aubrey Milunsky and Jacob A. Canick
Chapter 24 Multi?Marker Maternal Serum Screening for Chromosomal Abnormalities (pages 771–818): Howard S. Cuckle and Peter A. Benn
Chapter 25 Prenatal Diagnosis of Fetal Malformations by Ultrasound (pages 819–881): Yves G. Ville and Durata Nowakowska
Chapter 26 Prenatal Diagnosis and Management of Abnormal Fetal Development with Emphasis on the Third Trimester of Pregnancy (pages 882–910): Juriy W. Wladimiroff and Titia E. Cohen?Overbeek
Chapter 27 Prenatal Diagnosis by Fetal Magnetic Resonance Imaging (pages 911–928): Nadine Girard and Kathia Chaumoitre
Chapter 28 Induced Abortion for Genetic Indications: Techniques and Complications (pages 929–949): Lee P. Shulman
Chapter 29 Preimplantation Genetic Diagnosis (pages 950–977): Yury Verlinsky and Anver Kuliev
Chapter 30 Prenatal Diagnosis through Analysis of Intact Fetal Cells and Cell?Free Nucleic Acids in the Maternal Circulation (pages 978–1000): Diana W. Bianchi and Y. M. Dennis Lo
Chapter 31 Fetal Therapy (pages 1001–1019): Diana L. Farmer, Hammin Lee, Elizabeth Gress, Aubrey Milunsky and Michael R. Harrison
Chapter 32 Prenatal Diagnosis of Fetal Infection (pages 1020–1052): Yves Ville and Guillaume Benoist
Chapter 33 Medicolegal Aspects of Prenatal Diagnosis (pages 1053–1080): Ellen Wright Clayton and Mary Z. Pelias
Chapter 34 Prenatal and Preimplantation Diagnosis: International Policy Perspectives (pages 1081–1096): Bartha Maria Knoppers and Thu Minh Nguyen
Chapter 35 Ethical Issues in the Diagnosis and Management of Genetic Disorders in the Fetus (pages 1097–1121): Frank A. Chervenak and Laurence B. McCullough