Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment

by Aubrey Milunsky (Editor)

The definitive reference work on prenatal diagnosis, Genetic Disorders and the Fetus is now available in a completely revised and updated fifth edition reflecting the most current advances in research, technology, and clinical care. Written by an international team of experts, the volume provides an in-depth critical analysis and synthesis of the latest work in prenatal diagnosis of genetic disorders and fetal malformations. This volume represents a substantial repository of facts and emphasizes important advances in the prenatal detection and screening for cystic fibrosis, neural tube defects, chromosomal abnormalities, hemoglobinopathies, and fragile X syndrome. Technical advances in fetal blood sampling, abortion, and fetal therapy are highlighted, and an enormous personal experience with chorionic villus sampling provides valuable lessons and guidance. The extensive compilation of information concerning the prenatal detection of chromosomal abnormalities is essential to all those engaged daily in prenatal genetic diagnosis. Other topics multianalyte screening for neural tube and chromosomal defects, with special reference to the first-trimester screening; fetal imaging; advances in molecular genetics that facilitate prenatal diagnosis and the indications, limitations, pitfalls, and guidelines for this type of testing; and the prenatal diagnosis of lipid, mucopolysaccharide, amino acid, folate, and other metabolic disorders, congenital adrenal hyperplasia, and immunodeficiency disorders. A comprehensive review and synthesis of the medicolegal and ethical aspects of prenatal genetic diagnosis completes this heavily referenced, up-to-date volume. 1 Genetic Preconception, Prenatal, and Perinatal / Aubrey Milunsky and Jeff M. Milunsky2 Amniocentesis and Fetal Blood Sampling / Sherman Elias and Joe Leigh Simpson3 Amniotic Fluid / Louis Dallaire and Aubrey Milunsky4 Amniotic Fluid Cell Culture / Daniel L. Van Dyke5 Prenatal Genetic Diagnosis through Chorionic Villus Sampling / Bruno Brambati and Lucia Tului6 Prenatal Diagnosis of Chromosomal Abnormalities through Amniocentesis / Peter A. Benn and Lillian Y. F. Hsu7 Prenatal Diagnosis of Sex Chromosome Abnormalities / Jeff M. Milunsky8 Molecular Cytogenetics and Prenatal Diagnosis / Stuart Schwartz9 Prenatal Diagnosis of the Fragile X Syndrom / Edmund C. Jenkins and W. Ted Brown10 Molecular Genetics and Prenatal Diagnosis / Thomas W. Prior, Aubrey Milunsky, Cindy L. Vnencak-Jones, and John A. Phillips III11 Prenatal Diagnosis of Disorders of Lipid Metabolism / Bryan G. Winchester and Elisabeth P. Young12 Prenatal Diagnosis of Disorders of Mucopolysaccharide Metabolism / Gideon Bach13 Disorders of the Metabolism of Amino Acids and Related Compounds / Vivian E. Shih and Roseann Mandell14 Prenatal Diagnosis of Disorders of Carbohydrate Metabolism / Yuan-Tsong Chen15 Prenatal Diagnosis of Cystic Fibrosis / Gerald L. Feldman and Kristin G. Monaghan16 Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia / Phyllis W. Speiser17 Prenatal Diagnosis of Miscellaneous Biochemical Disorders / David S. Rosenblatt18 Prenatal Diagnosis of Primary Immunodeficiency Diseases / Jennifer M. Puck19 Prenatal Diagnosis of the Hemoglobinopathies / John M. Old20 Prenatal Diagnosis of Connective Tissue Disorders / James C. Hyland and Leena Ala-Kokko21 Maternal Serum Screening for Neural Tube and Other Defects / Aubrey Milunsky and Jacob A. Canick22 Multimarker Maternal Serum Screening for Chromosomal Abnormalities / Howard S. Cuckle and Svetlana Arbuzova23 Prenatal Diagnosis of Fetal Malformations by Ultrasound / Yves G. Ville, Kypros H. Nicolaides, and Stuart Campbell24 Prenatal Diagnosis and Management of Abnormal Fetal Development in the Third Trimester of Pregnancy / J. W. Wladimiroff25 Prenatal Magnetic Resonance Imaging for Fetal Abnormalities / Anne M. Hubbard26 Induced Abortion for Genetic Techniques and Complications / Lee P. Shulman, Sherman Elias, and Joe Leigh Simpson27 Preimplantation Genetic Diagnosis / Yury Verlinsky and Anver Kuliev28 Prenatal Diagnosis through the Analysis of Fetal Cells and Cell-Free Nucleic Acids in the Maternal Circulation / Diana W. Bianchi29 Fetal Therapy / Diana L. Farmer, Hanmin Lee, Michael R. Harrison, and Kerilyn K. Nobuhara30 Prenatal Diagnosis of Fetal Infection / Fernand Daffos, Françios Jacquemard, Véronique Mirlesse, Stéphane Romand, and Philippe Thulliez31 Medicolegal Aspects of Prenatal Diagnosis / Mary Z. Pelias32 Ethical Issues in the Diagnosis and Management of Genetic Disorders in the Fetus / Frank A. Chervenak and Laurence B. Prenatal Diagnosis of Additional Miscellaneous Genetic Disorders / Aubrey Milunsky

1248 pages, Hardcover

First published April 1, 1979