Genetic Disorders and the Fetus ：Diagnosis, Prevention and Treatment

Publication subTitle ：Diagnosis, Prevention and Treatment

Author： Aubrey Milunsky  

Publisher： John Wiley & Sons Inc‎

Publication year： 2009

E-ISBN: 9781444314359

P-ISBN(Hardback):  9781405190879

Subject： R714.15 pregnancy diagnosis

Language： ENG

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Description

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.

Chapter

Contents

pp.：  1 – 7

Preface

pp.：  7 – 9

Acknowledgments

pp.：  9 – 11

List of Contributors

pp.：  11 – 12

1: Genetic Counseling: Preconception, Prenatal and Perinatal

pp.：  12 – 15

2: Amniocentesis and Fetal Blood Sampling

pp.：  15 – 77

3: Amniotic Fluid

pp.：  77 – 108

4: Amniotic Fluid Cell Culture

pp.：  108 – 152

5: Prenatal Genetic Diagnosis through Chorionic Villus Sampling

pp.：  152 – 174

6: Prenatal Diagnosis of Chromosomal Abnormalities through Amniocentesis

pp.：  174 – 208

7: Prenatal Diagnosis of Sex Chromosome Abnormalities

pp.：  208 – 287

8: Molecular Cytogenetics and Prenatal Diagnosis

pp.：  287 – 327

9: Prenatal Diagnosis and the Spectrum of Involvement from Fragile X Mutations

pp.：  327 – 363

10: Prenatal Diagnosis by Microarray Analysis

pp.：  363 – 379

11: Molecular Genetics and Prenatal Diagnosis

pp.：  379 – 394

12: Prenatal Diagnosis of Disorders of Lipid Metabolism

pp.：  394 – 459

13: Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies

pp.：  459 – 503

14: Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy

pp.：  503 – 509

15: Disorders of the Metabolism of Amino Acids and Related Compounds

pp.：  509 – 528

16: Prenatal Diagnosis of Disorders of Carbohydrate Metabolism

pp.：  528 – 568

17: Prenatal Diagnosis of Cystic Fibrosis

pp.：  568 – 591

18: Prenatal Diagnosis and Treatment of Congenital Adrenal Hyperplasia

pp.：  591 – 614

19: Prenatal Diagnosis of Miscellaneous Biochemical Disorders

pp.：  614 – 628

20: Prenatal Diagnosis of Primary Immunodeficiency Diseases

pp.：  628 – 642

21: Prenatal Diagnosis of the Hemoglobinopathies

pp.：  642 – 660

22: Prenatal Diagnosis of Disorders of Bone and Connective Tissue

pp.：  660 – 694

23: Maternal Serum Screening for Neural Tube and Other Defects

pp.：  694 – 719

24: Multi-Marker Maternal Serum Screening for Chromosomal Abnormalities

pp.：  719 – 785

25: Prenatal Diagnosis of Fetal Malformations by Ultrasound

pp.：  785 – 833

26: Prenatal Diagnosis and Management of Abnormal Fetal Development with Emphasis on the Third Trimester of Pregnancy

pp.：  833 – 896

27: Prenatal Diagnosis by Fetal Magnetic Resonance Imaging

pp.：  896 – 925

28: Induced Abortion for Genetic Indications: Techniques and Complications

pp.：  925 – 943

29: Preimplantation Genetic Diagnosis

pp.：  943 – 972

LastPages

pp.：  963 – 1193

30: Prenatal Diagnosis through Analysis of Intact Fetal Cells and Cell-Free Nucleic Acids in the Maternal Circulation

pp.：  972 – 1000

31: Fetal Therapy

pp.：  1000 – 1023

32: Prenatal Diagnosis of Fetal Infection

pp.：  1023 – 1042

33: Medicolegal Aspects of Prenatal Diagnosis

pp.：  1042 – 1075

34: Prenatal and Preimplantation Diagnosis: International Policy Perspectives

pp.：  1075 – 1103

35: Ethical Issues in the Diagnosis and Management of Genetic Disorders in the Fetus

pp.：  1103 – 1119

APPENDIX: Prenatal Diagnosis of Additional Miscellaneous Genetic Disorders

pp.：  1119 – 1144

Index

pp.：  1144 – 1158

colour plates

pp.：  1158 – 963

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