Genetic Disorders and the Fetus, Sixth Edition

Description

Highly Commended in the Obstetrics and Gynaecology category of the 2010 BMA Medical Book CompetitionBrand new edition of the world's leading text on prenatal diagnosis This 6th 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. MilunskyChapter 2 Amniocentesis and Fetal Blood Sampling (pages 63–93): Sherman EliasChapter 3 Amniotic Fluid (pages 94–137): Aubrey MilunskyChapter 4 Amniotic Fluid Cell Culture (pages 138–159): Daniel L. van DykeChapter 5 Prenatal Genetic Diagnosis through Chorionic Villus Sampling (pages 160–193): Giovanni Monni, Rosa Maria Ibba and Maria Angelica ZoppiChapter 6 Prenatal Diagnosis of Chromosomal Abnormalities through Amniocentesis (pages 194–272): Peter A. BennChapter 7 Prenatal Diagnosis of Sex Chromosome Abnormalities (pages 273–312): Jeff M. MilunskyChapter 8 Molecular Cytogenetics and Prenatal Diagnosis (pages 313–348): Stuart SchwartzChapter 9 Prenatal Diagnosis and the Spectrum of Involvement from Fragile X Mutations (pages 349–364): Randi Hagerman, Vivien Narcisa and Paul HagermanChapter 10 Prenatal Diagnosis by Microarray Analysis (pages 365–379): Joris Robert VermeeschChapter 11 Molecular Genetics and Prenatal Diagnosis (pages 380–444): John A. PhillipsChapter 12 Prenatal Diagnosis of Disorders of Lipid Metabolism (pages 445–488): Bryan G. WinchesterChapter 13 Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies (pages 489–494): Ronald J. A. WandersChapter 14 Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy (pages 495–513): John J. HopwoodChapter 15 Disorders of the Metabolism of Amino Acids and Related Compounds (pages 514–553): Vivian E. Shih and Roseann MandellChapter 16 Prenatal Diagnosis of Disorders of Carbohydrate Metabolism (pages 554–576): Yuan?Tsong Chen and Deeksha S. BaliChapter 17 Prenatal Diagnosis of Cystic Fibrosis (pages 577–599): Gerald L. Feldman and Kristin G. MonaghanChapter 18 Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia (pages 600–613): Phyllis W. SpeiserChapter 19 Prenatal Diagnosis of Miscellaneous Biochemical Disorders (pages 614–627): David S. Rosenblatt and David WatkinsChapter 20 Prenatal Diagnosis of Primary Immunodeficiency Diseases (pages 628–645): Jennifer M. PuckChapter 21 Prenatal Diagnosis of the Hemoglobinopathies (pages 646–679): John M. OldChapter 22 Prenatal Diagnosis of Disorders of Bone and Connective Tissue (pages 680–704): Andrea Superti?Furga and Sheila UngerChapter 23 Maternal Serum Screening for Neural Tube and Other Defects (pages 705–770): Aubrey Milunsky and Jacob A. CanickChapter 24 Multi?Marker Maternal Serum Screening for Chromosomal Abnormalities (pages 771–818): Howard S. Cuckle and Peter A. BennChapter 25 Prenatal Diagnosis of Fetal Malformations by Ultrasound (pages 819–881): Yves G. Ville and Durata NowakowskaChapter 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?OverbeekChapter 27 Prenatal Diagnosis by Fetal Magnetic Resonance Imaging (pages 911–928): Nadine Girard and Kathia ChaumoitreChapter 28 Induced Abortion for Genetic Indications: Techniques and Complications (pages 929–949): Lee P. ShulmanChapter 29 Preimplantation Genetic Diagnosis (pages 950–977): Yury Verlinsky and Anver KulievChapter 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 LoChapter 31 Fetal Therapy (pages 1001–1019): Diana L. Farmer, Hammin Lee, Elizabeth Gress, Aubrey Milunsky and Michael R. HarrisonChapter 32 Prenatal Diagnosis of Fetal Infection (pages 1020–1052): Yves Ville and Guillaume BenoistChapter 33 Medicolegal Aspects of Prenatal Diagnosis (pages 1053–1080): Ellen Wright Clayton and Mary Z. PeliasChapter 34 Prenatal and Preimplantation Diagnosis: International Policy Perspectives (pages 1081–1096): Bartha Maria Knoppers and Thu Minh NguyenChapter 35 Ethical Issues in the Diagnosis and Management of Genetic Disorders in the Fetus (pages 1097–1121): Frank A. Chervenak and Laurence B. McCullough