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.
Preface ix Acknowledgements xi List of Contributors xii 1 Genetic Counseling: Preconception, Prenatal, and Perinatal 1Aubrey Milunsky and Jeff MMilunsky 2 Amniocentesis, Chorionic Villus Sampling, and Fetal Blood Sampling 68Anthony O Odibo 3 Amniotic Fluid Constituents, Cell Culture, andNeural TubeDefects 98Daniel L Van Dyke and Aubrey Milunsky 4 Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis 178Peter A Benn 5 PrenatalDiagnosis of Sex Chromosome Abnormalities 267Jeff M Milunsky 6 Molecular Cytogenetics and PrenatalDiagnosis 313Stuart Schwartz 7 PrenatalDiagnosis and the Spectrumof Involvement from Fragile X Mutations 350Randi Hagerman and Paul Hagerman 8 Prenatal Diagnosis by Microarray Analysis 366Joris Robert Vermeesch 9 Molecular Genetics and Prenatal Diagnosis 380Aubrey Milunsky, Clinton Baldwin, and Jeff Milunsky 10 Preimplantation Genetic Diagnosis 419Anver Kuliev and Svetlana Rechitsky 11 Noninvasive Prenatal Screening and Diagnosis Using Cell-free Fetal DNA 453Melissa Hill and Lyn S Chitty 12 Maternal Serum Screening for Chromosomal Abnormalities and Neural Tube Defects 483Howard Cuckle, Eugene Pergament, and Peter Benn 13 Prenatal Diagnosis of Fetal Malformations by Ultrasound 541Yves G Ville and Jean-Philippe Bault 14 Prenatal Diagnosis and Management of Abnormal Fetal Development in the Third Trimester of Pregnancy 599Roland Axt-Fliedner and Aline Wolter 15 Prenatal Diagnosis by Fetal Magnetic Resonance Imaging 660Nadine Girard and Kathia Chaumoitre 16 Prenatal Diagnosis of Skeletal Dysplasias and Connective Tissue Disorders 681Andrea Superti-Furga and Sheila Unger 17 Prenatal Diagnosis of Cystic Fibrosis 700Wayne W Grody 18 Prenatal Diagnosis of the Hemoglobinopathies 718John M Old 19 Prenatal Diagnosis of Primary Immunodeficiency Diseases 755Jennifer M Puck 20 Prenatal Diagnosis of Disorders of Lipid Metabolism 773Steven Humphries, Sara Mole, and Bryan Winchester 21 Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies 838Ronald J.A. Wanders 22 Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy 857John J Hopwood 23 Disorders of Metabolism of Amino Acids and Related Compounds 877Georgianne L Arnold and Jerry Vockley 24 Prenatal Diagnosis of Disorders of Carbohydrate Metabolism 903Deeksha Sarihyan Bali, Stephanie Austin, and Yuan-Tsong Chen 25 Prenatal Diagnosis of Miscellaneous Biochemical Disorders 927David S Rosenblatt and David Watkins 26 Prenatal Diagnosis of Fetal Infection 942Yves G Ville and Marianne Leruez-Ville 27 Fetal Medical Therapy 976Phyllis W Speiser and Aubrey Milunsky 28 Fetal Surgery 989Benjamin AKeller, Shinjiro Hirose, and Diana L Farmer 29 Induced Abortion for Genetic Indications: Techniques and Complications 1011Lee P Shulman 30 Molecular Aspects of Placental Development 1031Wendy P Robinson and Deborah E McFadden 31 Grief after Perinatal Loss 1048Anette Kersting and Michaela Nagl 32 Medicolegal Aspects of Prenatal Diagnosis 1063Ellen Wright Clayton 33 Prenatal and Preimplantation Diagnosis: International Policy Perspectives 1091Minh Thu Minh Nguyen and Bartha Maria Knoppers 34 Ethical Issues in the Diagnosis and Management of Genetic Disorders in the Fetus 1106Frank A Chervenak and Laurence B McCullough Index 1131