Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment

Description

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.

Contents

Preface
Acknowledgments
List of Contributors

1. Genetic Counseling: Preconception, Prenatal, and Perinatal
Aubrey Milunsky and Jeff M. Milunsky
2. Amniocentesis, Chorionic Villus Sampling and Fetal Blood Sampling
Anthony O. Odibo
3. Amniotic Fluid Constituents, Cell Culture and Neural Tube Defects
Daniel L. Van Dyke and Aubrey Milunsky
4. Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis
Peter A. Benn
5. Prenatal Diagnosis of Sex Chromosome Abnormalities
Jeff M. Milunsky
6. Molecular Cytogenetics and Prenatal Diagnosis
Stuart Schwartz
7. Prenatal Diagnosis and the Spectrum of Involvement from Fragile X Mutations
Randi Hagerman and Paul Hagerman
8. Prenatal Diagnosis by Microarray Analysis
Joris Robert Vermeesch
9. Molecular Genetics and Prenatal Diagnosis
Aubrey Milunsky, Clinton Baldwin and Jeff M. Milunsky
10. Preimplantation Genetic Diagnosis
Anver Kuliev and Svetlana Rechitsky
11. Non-Invasive Prenatal Screening and Diagnosis Using Cell-Free Fetal DNA
Melissa Hill and Lyn S. Chitty
12. Maternal Serum Screening for Chromosomal Abnormalities and Neural Tube Defects
Howard Cuckle and Eugene Pergament
13. Prenatal Diagnosis of Fetal Malformations by Ultrasound
Yves G. Ville and Jean-Phillipe Bault
14. Prenatal Diagnosis and Management of Abnormal Fetal Development in the Third Trimester of Pregnancy
Roland Axt-Fliedner and A. Wolter
15. Prenatal Diagnosis by Fetal Magnetic Resonance Imaging
Nadine Girard and Kathia Chaumoitre
16. Prenatal Diagnosis of Skeletal Dysplasias and Connective Tissue Disorders
Andrea Superti-Furga and Sheila Unger
17. Prenatal Diagnosis of Cystic Fibrosis
Wayne W. Grody
18. Prenatal Diagnosis of the Hemoglobinopathies
John M. Old
19. Prenatal Diagnosis of Primary Immunodeficiency Diseases
Jennifer M. Puck
20. Prenatal Diagnosis of Disorders of Lipid Metabolism
Steven Humphries, Sara Mole and Bryan G. Winchester
21. Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies
Ronald J.A. Wanders
22. Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy
John J. Hopwood
23. Disorders of Metabolism of Amino Acids and Related Compounds
Georgianne L. Arnold and Jerry Vockley
24. Prenatal Diagnosis of Disorders of Carbohydrate Metabolism
Deeksha S. Bali, Stephanie Austin and Y.T. Chen
25. Prenatal Diagnosis of Miscellaneous Biochemical Disorders
David S. Rosenblatt and David Watkins
26. Prenatal Diagnosis of Fetal Infection
Yves Ville and Marianne Leruez-Ville
27. Fetal Medical Therapy
Phyllis W. Speiser and Aubrey Milunsky
28. Fetal Surgery
Benjamin A. Keller, Shinjiro Hirose and Diana L. Farmer
29. Induced Abortion for Genetic Indications: Techniques and Complications
Lee P. Shulman
30. Molecular Aspects of Placental Development
Wendy Robinson and Deborah E. McFadden
31. Grief After Perinatal Loss
Anette Kersting and Michaela Nagl
32. Medicolegal Aspects of Prenatal Diagnosis
Ellen Wright Clayton
33. Prenatal and Preimplantation Diagnosis: International Policy Perspectives
Minh Thu Minh Nguyen and Bartha M. Knoppers
34. Ethical Issues in the Diagnosis and Management of Genetic Disorders in the Fetus
Frank A. Chervenak and Laurence B. McCullough