Genetic Disorders and the Fetus

Diagnosis, Prevention, and Treatment
Wiley-Blackwell (Verlag)
  • 7. Auflage
  • |
  • erschienen am 21. September 2015
  • |
  • 1250 Seiten
E-Book | ePUB mit Adobe DRM | Systemvoraussetzungen
978-1-118-98154-2 (ISBN)
Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Seventh Edition is the eagerly awaited new edition of the discipline-leading text that has been at the forefront of diagnosis, prevention, and treatment of fetal genetic disorders for over 36 years.
The seventh edition continues the long-established tradition of excellence that has become synonymous with this text. The book builds on the foundations of preconception and prenatal genetic counseling and the original pillars of prenatal diagnosis while also providing authoritative coverage of exciting developments in non-invasive genetic testing and rapidly developing molecular techniques, including microarray analysis and next generation sequencing, that are revolutionizing the field. Chapters are once again authored by internationally recognized authorities in the field of prenatal diagnosis. The editors have added three entirely new chapters to this edition to complement the complete revision of existing content. The three new chapters focus on non-invasive prenatal screening, placental genetics, and the psychology of prenatal and perinatal grief. The broad-ranging coverage and international scope will ensure that the new edition maintains its role as the major repository for information on all aspects of prenatal diagnosis.The editors have brought together an invaluable collection of evidence-based facts bolstered by knowledge and decades of experience in the field. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 7th Edition is a timely update to this world-leading text.
7. Auflage
  • Englisch
  • New York
  • |
  • USA
John Wiley & Sons
  • 8,22 MB
978-1-118-98154-2 (9781118981542)
1118981545 (1118981545)
weitere Ausgaben werden ermittelt
Preface ix
Acknowledgements xi
List of Contributors xii
1 Genetic Counseling: Preconception, Prenatal, and Perinatal 1
Aubrey Milunsky and Jeff MMilunsky
2 Amniocentesis, Chorionic Villus Sampling, and Fetal Blood Sampling 68
Anthony O Odibo
3 Amniotic Fluid Constituents, Cell Culture, andNeural TubeDefects 98
Daniel L Van Dyke and Aubrey Milunsky
4 Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis 178
Peter A Benn
5 PrenatalDiagnosis of Sex Chromosome Abnormalities 267
Jeff M Milunsky
6 Molecular Cytogenetics and PrenatalDiagnosis 313
Stuart Schwartz
7 PrenatalDiagnosis and the Spectrumof Involvement from Fragile X Mutations 350
Randi Hagerman and Paul Hagerman
8 Prenatal Diagnosis by Microarray Analysis 366
Joris Robert Vermeesch
9 Molecular Genetics and Prenatal Diagnosis 380
Aubrey Milunsky, Clinton Baldwin, and Jeff Milunsky
10 Preimplantation Genetic Diagnosis 419
Anver Kuliev and Svetlana Rechitsky
11 Noninvasive Prenatal Screening and Diagnosis Using Cell-free Fetal DNA 453
Melissa Hill and Lyn S Chitty
12 Maternal Serum Screening for Chromosomal Abnormalities and Neural Tube Defects 483
Howard Cuckle, Eugene Pergament, and Peter Benn
13 Prenatal Diagnosis of Fetal Malformations by Ultrasound 541
Yves G Ville and Jean-Philippe Bault
14 Prenatal Diagnosis and Management of Abnormal Fetal Development in the Third Trimester of Pregnancy 599
Roland Axt-Fliedner and Aline Wolter
15 Prenatal Diagnosis by Fetal Magnetic Resonance Imaging 660
Nadine Girard and Kathia Chaumoitre
16 Prenatal Diagnosis of Skeletal Dysplasias and Connective Tissue Disorders 681
Andrea Superti-Furga and Sheila Unger
17 Prenatal Diagnosis of Cystic Fibrosis 700
Wayne W Grody
18 Prenatal Diagnosis of the Hemoglobinopathies 718
John M Old
19 Prenatal Diagnosis of Primary Immunodeficiency Diseases 755
Jennifer M Puck
20 Prenatal Diagnosis of Disorders of Lipid Metabolism 773
Steven Humphries, Sara Mole, and Bryan Winchester
21 Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies 838
Ronald J.A. Wanders
22 Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy 857
John J Hopwood
23 Disorders of Metabolism of Amino Acids and Related Compounds 877
Georgianne L Arnold and Jerry Vockley
24 Prenatal Diagnosis of Disorders of Carbohydrate Metabolism 903
Deeksha Sarihyan Bali, Stephanie Austin, and Yuan-Tsong Chen
25 Prenatal Diagnosis of Miscellaneous Biochemical Disorders 927
David S Rosenblatt and David Watkins
26 Prenatal Diagnosis of Fetal Infection 942
Yves G Ville and Marianne Leruez-Ville
27 Fetal Medical Therapy 976
Phyllis W Speiser and Aubrey Milunsky
28 Fetal Surgery 989
Benjamin AKeller, Shinjiro Hirose, and Diana L Farmer
29 Induced Abortion for Genetic Indications: Techniques and Complications 1011
Lee P Shulman
30 Molecular Aspects of Placental Development 1031
Wendy P Robinson and Deborah E McFadden
31 Grief after Perinatal Loss 1048
Anette Kersting and Michaela Nagl
32 Medicolegal Aspects of Prenatal Diagnosis 1063
Ellen Wright Clayton
33 Prenatal and Preimplantation Diagnosis: International Policy Perspectives 1091
Minh Thu Minh Nguyen and Bartha Maria Knoppers
34 Ethical Issues in the Diagnosis and Management of Genetic Disorders in the Fetus 1106
Frank A Chervenak and Laurence B McCullough
Index 1131

List of Contributors

Georgianne L. Arnold, MD
Professor of Pediatrics
University of Pittsburgh School of Medicine
Clinical Director, Division of Medical Genetics
Children's Hospital Pittsburgh
Pittsburgh, PA, USA

Stephanie Austin, MS, MA, CGC
Genetic Counsellor
Duke University Medical Center
Durham, NC, USA

Roland M. Axt-Fliedner, MD, PhD
Professor of Obstetrics and Gynecology
Division of Prenatal Medicine and Fetal Therapy
University Hospital
Gießen, Germany

Clinton Baldwin, PhD
Molecular Genetics Research
Center for Human Genetics, Inc.
Cambridge, MA, USA

Deeksha S. Bali, PhD, FACMG
Professor of Pediatrics
Laboratory Director
Division of Medical Genetics
Duke University Medical Center
Durham, NC, USA

Jean-Philippe Bault, MD
Consultant in Obstetrics
Obstetrics Department
Hôpital Bicêtre
University Hospital Paris-Sud
Centre Hospitalier Intercommunal de Poissy-St. Germain
   en Laye
Poissy, France

Peter A. Benn, MSc, PhD, FACMG, DSc
Departments of Genetics and Genome Sciences
Pediatrics and Laboratory Medicine
Human Genetics Laboratories
University of Connecticut Health Center
Farmington, CT, USA

Kathia Chaumoitre, MD, PhD
Department of Radiology
Timone Hospital
Aix-Marseille University
Marseille, France

Yuan-Tsong Chen, MD, PhD
Professor of Pediatrics and Genetics
Duke University Medical Center
Durham, NC, USA
Institute of Biomedical Sciences
Academia Sinica

Frank A. Chervenak, MD
Given Foundation Professor and Chairman
Department of Obstetrics and Gynecology
Obstetrician and Gynecologist-in-Chief
Weill Cornell Medical Center
New York Presbyterian Hospital
New York, NY, USA

Lyn S. Chitty, PhD, MB, BS, MRCOG
Professor of Genetics and Fetal Medicine
UCL Institute of Child Health
Great Ormond Street Hospital for Children and
University College London Hospital NHS Foundation Trusts
London, UK

Ellen Wright Clayton, MD, JD
Craig-Weaver Professor of Pediatrics
Professor of Law
Center for Biomedical Ethics and Society
Vanderbilt University
Nashville, TN, USA

Howard Cuckle, MSc, DPhil
Adjunct Professor, Obstetrics and Gynecology
Columbia University
New York, NY, USA

Diana L. Farmer, MD, FACS, FRCS
Pearl Stamps Stewart Professor and Chair
Department of Surgery
UC Davis School of Medicine
UC Davis Children's Hospital
UC Davis Health System
Sacramento, CA, USA

Nadine Girard, MD, PhD
Professor of Neuroradiology
Centre de Resonance Magnetique Biologique et
Centre National de la Recherche Scientifique
Faculte de Medicine la Timone
Université de La Mediterranée
Head of Neuroradiology
Timone Hospital
Aix-Marseille University
Marseille, France

Wayne Grody, MD, PhD
Divisions of Medical Genetics and Molecular Diagnostics
Departments of Pathology and Laboratory Medicine
   Pediatrics, and Human Genetics
UCLA School of Medicine
UCLA Institute for Society and Genetics
Molecular Diagnostic Laboratories and Clinical Genomics
UCLA Medical Center
Los Angeles, CA, USA

Paul J. Hagerman, MD, PhD
Distinguished Professor
Department of Biochemistry and Molecular Medicine
School of Medicine
UC Davis Health System
Sacramento, CA, USA

Randi J. Hagerman, MD
Medical Director
MIND Institute
Distinguished Professor of Pediatrics
Endowed Chair in Fragile X Research
UC Davis Health System
Sacramento, CA, USA

Melissa Hill, BSc, PhD
Senior Researcher
North East Thames Regional Genetics Service
Great Ormond Street Hospital for Children NHS
   Foundation Trust
London, UK

Shijiro Hirose, MD
Associate Professor and Chief
Division of Pediatric General
Thoracic and Fetal Surgery
Department of Surgery
UC Davis School of Medicine
Sacramento, CA, USA

John J. Hopwood, PhD
Professor and Director
Lysosomal Diseases Research Unit
South Australian Health and Medical Research Institute
Adelaide, Australia 

Steven E. Humphries, PhD
Professor of Cardiovascular Genetics
Centre for Cardiovascular Genetics
Institute of Cardiovascular Science
University College London
London, UK

Benjamin A. Keller, MD
Department of Surgery
UC Davis School of Medicine
UC Davis Health System
Sacramento, CA, USA

Anette Kersting, MD
Department of Psychosomatic Medicine
Clinic for Psychosomatic Medicine
University of Leipzig
Leipzig, Germany

Bartha M. Knoppers, PhD, OC, OQ
Canada Research Chair in Law and Medicine
Centre of Genomics and Policy
Faculty of Medicine
Department of Human Genetics
McGill University
Montreal, Quebec, Canada

Anver Kuliev, MD, PhD
Director of Research
Reproductive Genetics Innovations
Northbrook, IL, USA

Marianne Leruez-Ville, MD, PhD
Consultant in Medical Virology
National Reference Laboratory for Congenital
   Cytomegalovirus Infections
Hôpital Necker-Enfants-Malades
Université Paris Decartes
Paris, France

Laurence B. McCullough, PhD
Dalton Tomlin Chair
Medical Ethics and Health Policy
Center for Medical Ethics and Health Policy
Baylor College of Medicine
Houston, TX, USA

Deborah E. McFadden, MD, FRCPC
Head and Medical Director
Department of Pathology and Laboratory Medicine
Children's & Women's Hospitals of British Columbia
Clinical Professor
Department of Pathology and Laboratory Medicine
University of British Columbia
Vancouver, BC, Canada

Aubrey Milunsky, MD BCh, DSc, FRCP, FACMG, DCH
Professor of Obstetrics and Gynecology
Tufts University School of Medicine
Founder and Co-Director
Center for Human Genetics
Cambridge, MA, USA

Jeff M. Milunsky, MD, FACMG
Center for Human Genetics
Clinical Genetics
Senior Director
Molecular Genetics
Cambridge, MA, USA

Sara Mole, PhD
Reader in Molecular Cell Biology
UCL Institute of Child Health
MRC Laboratory of Molecular Cell Biology
Genetics and Epigenetics in Health and Disease Section
Genetics and Genomics Medicine Programme
Department of Genetics
Evolution and Environment
University College London
London, UK

Michaela Nagl, PhD
Department of Psychosomatic Medicine
   and Psychotherapy
University of Leipzig
Leipzip, Germany

Minh Thu Minh Nguyen, LLM, LLB, BSc
Research Associate
Centre of Genomics and Policy
McGill University
Montreal, Quebec, Canada

Anthony O. Odibo, MD, MSCE
Maternal Fetal Medicine
Department of Obstetrics and Gynecology
University of South Florida
Tampa, FL, USA

John M. Old, PhD, FRCPath
Consultant Clinical Scientist and Reader
   in Haematology
National Haemoglobinopathy
Reference Laboratory Haematology
John Radcliffe Hospital
Oxford University Hospitals NHS Trust
Oxford, UK

Eugene Pergament, MD, PhD
Professor of Clinical Obstetrics and Gynecology
Feinberg School of Medicine of Northwestern University
Northwestern Reproductive Genetics
Chicago, IL, USA

Jennifer M. Puck, MD
Professor of Pediatrics
UCSF Smith Cardiovascular Research Institute
San Francisco, CA, USA

Svetlana Rechitsky, PhD
Reproductive Genetic Innovations
Northbrook, IL, USA

Wendy P. Robinson, PhD
Professor, Department of Medical Genetics
University of British Columbia; and Senior Scientist
Child and Family Research Institute
Vancouver, BC, Canada

David S. Rosenblatt, MDCM
Dodd Q. Chu and Family Chair in Medical Genetics
Departments of Human Genetics
Medicine, Pediatrics, and Biology
Faculties of Medicine and Science
McGill University
Montreal, Quebec, Canada

Stuart Schwartz, PhD
Strategic Director
Laboratory Corporation of America ® Holdings
Research Triangle Park, NC, USA

Lee P. Shulman, MD
Anna Ross Lapham Professor in Obstetrics and Gynecology
Division of Clinical Genetics
Director, Northwestern Ovarian Cancer Early Detection
   and Prevention Program
Cancer Genetics...

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