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Genetic Disorders and the Fetus:

Diagnosis, Prevention and Treatment (Google eBook)
Front Cover
Aubrey Milunsky, Jeff Milunsky
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John Wiley & Sons, Sep 7, 2011 - Medical - 1184 pages
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.

  

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Contents

Preface
Acknowledgments
Truth in counseling
Amniocentesis and Fetal Blood Sampling
Prenatal Diagnosis of Sex Chromosome
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Molecular Cytogenetics and Prenatal Diagnosis
Conclusion
Maternal Serum Screening for Neural Tube
MuItiMarker Maternal Serum Screening
Current multi marker policies
Clinical factors
Prenatal Diagnosis of Fetal Malformations
Common defects a menable to prenatal diagnosis
Detection of abnormalities in the first trimester
Phenotypic expression of fetal aneuploidies in

Prenatal Diagnosis by Microarray Analysis
Molecular Genetics and Prenatal Diagnosis
Prenatal Diagnosis of Disorders of Lipid
Prenatal Diagnosis of the Peroxisomal
Prenatal diagnosis of cystic fibrosis
Prenatal Diagnosis and Treatment of Congenital
Prenatal Diagnosis of Miscellaneous Biochemical
Prenatal Diagnosis of PrimaLy Immunodeficiency
Prenatal Diagnosis of the Hemoglobinopathies
Approaches to prenatal diagnosis
Diagnostic pitfalls
Pseudoxanthoma elasticum
Intrauterine rowth restriction IUGR
Prenatal Diagnosis and Management of Abnormal
tolerance
Prenatal Diagnosis by Fetal Magnetic Resonance
Preimplantation Genetic Diagnosis
Prenatal Diagnosis through Analysis of Intact
Fetal Therapy
Prenatal Diagnosis of Fetal Infection
Medicolegal Aspects of Prenatal Diagnosis
Ethical Issues in the Diagnosis and Management
Appendix Prenatal Diagnosis of Additional
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About the author (2011)

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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