Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment / Edition 6

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Overview

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.

"Discusses the biology & diagnosis of different heritable disorders, the techniques of diagnosis, the options, & the medicolegal & ethical issues surrounding prenatal diagnosis."

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Editorial Reviews

Booknews
The second edition (1986) of this highly-regarded, comprehensive text-reference highlighted maternal serum screening for neural tube defects, which had become, at that time, a standard of expected care. Rapid and continuing advances in molecular genetics dominate the latest developmental phase in prenatal diagnosis, and this revised and updated edition presents extensive critical discussion of the current and expected state of the art in prenatal genetic diagnosis. Genetic counseling prerequisites, with emphasis on the preconception period, are emphasized, together with new insights arising from recent discoveries. Includes some 5,400 references. Annotation c. Book News, Inc., Portland, OR (booknews.com)
From the Publisher
"Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment gives exemplary treatment to the topics advertised on the cover. . . Instead, it will serve as a valuable resource in cleaner locales - in the office while analyzing the prenatal workup of a fetus about to be examined or while trying to understand the clinical discussion at maternal-fetal medicine conferences." (Pediatric & Developmental Pathology, 2011)
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Product Details

  • ISBN-13: 9781405190879
  • Publisher: Wiley, John & Sons, Incorporated
  • Publication date: 1/26/2010
  • Edition number: 6
  • Pages: 1184
  • Product dimensions: 7.40 (w) x 10.00 (h) x 2.40 (d)

Meet the Author

Aubrey Milunsky, MB.B.Ch., D.Sc., F.R.C.P., F.A.C.M.G., D.C.H.
Professor of Human Genetics, Pediatrics, Pathology, and Obstetrics and Gynecology and Director, Center for Human Genetics
Boston University School of Medicine
Boston, Massachusetts, USA

Jeff M. Milunsky, M.D., F.A.C.M.G.
Professor of Pediatrics and Genetics and Genomics
Associate Director,
Director, Clinical Genetics
Associate Director, Molecular Genetics
Center for Human Genetics
Boston University School of Medicine
Boston, Massachusetts, USA

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Table of Contents

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
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