Genetic Disorders and the Fetus

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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.


Aubrey Milunsky, MB.B.Ch., D.Sc., F.R.C.P., F.A.C.M.G., D.C. His Adjunct Professor of Obstetrics and Gynecology, Tufts University School of Medicine, and Founder and Co-Director, Center for Human Genetics, Cambridge, MA, USA.

Jeff Milunsky, M.D. F.A.C.M.G. is Co-Director, Center for Human Genetics, and Director of Clinical Genetics, and Senior Director of Molecular Genetics, Cambridge, MA, USA.

Échantillon de lecture
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

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

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Genetic Disorders and the Fetus
eBook (epub)
Génétique, génie génétique
Protection contre la copie numérique
Adobe DRM
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7. Aufl.
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