Highly Commended in the Obstetrics and Gynaecology category of the 2010 BMA Medical Book Competition 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:
- 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.
Author(s): Aubrey Milunsky, Jeff Milunsky
Series: Milunsky, Genetic Disorders and the Fetus
Edition: 6
Publisher: Wiley-Blackwell
Year: 2010
Language: English
Pages: 1193
Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment......Page 5
Contents......Page 7
Preface......Page 9
Acknowledgments......Page 11
List of Contributors......Page 12
1: Genetic Counseling: Preconception, Prenatal and Perinatal......Page 15
2: Amniocentesis and Fetal Blood Sampling......Page 77
3: Amniotic Fluid......Page 108
4: Amniotic Fluid Cell Culture......Page 152
5: Prenatal Genetic Diagnosis through Chorionic Villus Sampling......Page 174
6: Prenatal Diagnosis of Chromosomal Abnormalities through Amniocentesis......Page 208
7: Prenatal Diagnosis of Sex Chromosome Abnormalities......Page 287
8: Molecular Cytogenetics and Prenatal Diagnosis......Page 327
9: Prenatal Diagnosis and the Spectrum of Involvement from Fragile X Mutations......Page 363
10: Prenatal Diagnosis by Microarray Analysis......Page 379
11: Molecular Genetics and Prenatal Diagnosis......Page 394
12: Prenatal Diagnosis of Disorders of Lipid Metabolism......Page 459
13: Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies......Page 503
14: Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy......Page 509
15: Disorders of the Metabolism of Amino Acids and Related Compounds......Page 528
16: Prenatal Diagnosis of Disorders of Carbohydrate Metabolism......Page 568
17: Prenatal Diagnosis of Cystic Fibrosis......Page 591
18: Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia......Page 614
19: Prenatal Diagnosis of Miscellaneous Biochemical Disorders......Page 628
20: Prenatal Diagnosis of Primary Immunodeficiency Diseases......Page 642
21: Prenatal Diagnosis of the Hemoglobinopathies......Page 660
22: Prenatal Diagnosis of Disorders of Bone and Connective Tissue......Page 694
23: Maternal Serum Screening for Neural Tube and Other Defects......Page 719
24: Multi-Marker Maternal Serum Screening for Chromosomal Abnormalities......Page 785
25: Prenatal Diagnosis of Fetal Malformations by Ultrasound......Page 833
26: Prenatal Diagnosis and Management of Abnormal Fetal Development with Emphasis on the Third Trimester of Pregnancy......Page 896
27: Prenatal Diagnosis by Fetal Magnetic Resonance Imaging......Page 925
28: Induced Abortion for Genetic Indications: Techniques and Complications......Page 943
29: Preimplantation Genetic Diagnosis......Page 972
30: Prenatal Diagnosis through Analysis of Intact Fetal Cells and Cell-Free Nucleic Acids in the Maternal Circulation......Page 1000
31: Fetal Therapy......Page 1023
32: Prenatal Diagnosis of Fetal Infection......Page 1042
33: Medicolegal Aspects of Prenatal Diagnosis......Page 1075
34: Prenatal and Preimplantation Diagnosis: International Policy Perspectives......Page 1103
35: Ethical Issues in the Diagnosis and Management of Genetic Disorders in the Fetus......Page 1119
APPENDIX: Prenatal Diagnosis of Additional Miscellaneous Genetic Disorders......Page 1144
Index......Page 1158
Colour Plates......Page 963
