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Brand 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:
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.
"Discusses the biology & diagnosis of different heritable disorders, the techniques of diagnosis, the options, & the medicolegal & ethical issues surrounding prenatal diagnosis."
| Preface to the Fourth Edition | ||
| Acknowledgments | ||
| List of Contributors | ||
| 1 | Genetic Counseling: Preconception, Prenatal, and Perinatal | 1 |
| 2 | Amniocentesis and Fetal Blood Sampling | 53 |
| 3 | Amniotic Fluid | 83 |
| 4 | Fluid Cell Culture | 128 |
| 5 | Prenatal Genetic Diagnosis through Chorionic Villus Sampling | 150 |
| 6 | Prenatal Diagnosis of Chromosomal Abnormalities through Amniocentesis | 179 |
| 7 | Prenatal Diagnosis of Sex Chromosome Abnormalities | 249 |
| 8 | Molecular Cytogenetics and Prenatal Diagnosis | 286 |
| 9 | Prenatal Diagnosis of the Fragile X Syndrome | 314 |
| 10 | Molecular Genetics and Prenatal Diagnosis | 332 |
| 11 | Prenatal Diagnosis of Disorders of Lipid Metabolism | 394 |
| 12 | Prenatal Diagnosis of Disorders of Mucopolysaccharide Metabolism | 429 |
| 13 | Prenatal Diagnosis of the Metabolic Disorders of Amino Acids and Related Compounds | 445 |
| 14 | Prenatal Diagnosis of Disorders of Carbohydrate Metabolism | 484 |
| 15 | Prenatal Diagnosis of Cystic Fibrosis | 506 |
| 16 | Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia | 529 |
| 17 | Prenatal Diagnosis of Inborn Errors of Folate and Cobalamin Metabolism and of Cystinosis | 550 |
| 18 | Prenatal Diagnosis of Primary Immune-Deficiency Diseases | 563 |
| 19 | Prenatal Diagnosis of the Hemoglobinopathies | 581 |
| 20 | Prenatal Diagnosis of Connective Tissue Disorders | 612 |
| 21 | Maternal Serum Screening for Neural Tube and Other Defects | 635 |
| 22 | Multianalyte Maternal Serum Screening for Chromosomal Defects | 702 |
| 23 | Prenatal Diagnosis of Fetal Malformations by Ultrasound | 750 |
| 24 | Prenatal Diagnosis and Management of Abnormal Fetal Development in the Third Trimester of Pregnancy | 812 |
| 25 | Magnetic Resonance Imaging of the Fetus | 848 |
| 26 | Induced Abortion for Genetic Indications: Techniques and Complications | 883 |
| 27 | Preimplantation Genetic Diagnosis | 911 |
| 28 | Prenatal Diagnosis through the Analysis of Fetal Cells in the Maternal Circulation | 931 |
| 29 | Fetal Therapy | 952 |
| 30 | Medicolegal Aspects of Prenatal Diagnosis | 972 |
| 31 | Ethics and Prenatal Diagnosis | 999 |
| App | Prenatal Diagnosis of Additional Miscellaneous Genetic Disorders | 1025 |
| Index | 1035 |
Overview
Brand 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 ...