CiNii 図書 - Genetic disorders and the fetus : diagnosis, prevention, and treatment

Explore the latest edition of the definitive resource on prenatal genetic diagnosis In the newly revised eighth edition of Genetic Disorders and the Fetus, authors and acclaimed medical doctors, Aubrey and Jeff Milunsky, deliver a thorough and comprehensive reference perfect for academicians, students in post-graduate specialization courses, and working medical professionals. This book incorporates the knowledge, wisdom, perspectives, and recommendations from a renowned team of contributing authors, drawing upon their extensive experience in prenatal genetic diagnosis to present the definitive reference work used routinely around the world. In addition to fundamental information on established prenatal diagnosis and exhaustively referenced coverage of new techniques, you'll find new chapters on preconception genetic counselling, preimplantation genetic diagnosis, advances in fetal imaging, and gene therapy. Genetic Disorders and the Fetus is authored by a global team of internationally recognized contributors, all of whom are leading voices in the field The eighth edition also contains: A thorough discussion of the public policy and ethics of embryo editing, including mitochondrial replacement treatment, and gene patents, prenatal diagnosis, and polygenic disease risk prediction An exploration of preimplantation genetic diagnosis, pharmacogenetics and prenatal diagnosis, and whole genome sequencing A treatment of genetic disorders and pharmacologic therapy, including spinal muscular atrophy and fragile X syndrome A discussion of legal issues, including the fetus as plaintiff and the increasing liability of physicians due to advances in genetics Perfect for obstetricians, clinical geneticists, molecular and biochemical geneticists, and pediatricians, Genetic Disorders and the Fetus will also earn a place in the libraries of neonatologists, genetics counsellors, ethicists, radiologists, and professionals working in public policy and health departments.

Preface ix Acknowledgments xiii Contributors xv 1 Genetic Counseling: Preconception, Prenatal, and Perinatal 1 Aubrey Milunsky and Jeff M Milunsky 2 PreimplantationGenetic Testing 102 Anver Kuliev and Svetlana Rechitsky 3 Amniotic Fluid Constituents, Cell Culture, andNeural TubeDefects 140 Daniel L Van Dyke and Aubrey Milunsky 4 Molecular Aspects of PlacentalDevelopment 197 Wendy P Robinson and Deborah E McFadden 5 FetalOrigins of AdultHealth andDisease .214 Michael G Ross and Mina Desai 6 Maternal SerumScreening for Chromosomal Abnormalities andNeural TubeDefects 240 Howard Cuckle 7 Noninvasive Screening for AneuploidyUsing Cell-Free PlacentalDNA 301 Lorraine Dugoff 8 Noninvasive Prenatal Diagnosis and Screening for Monogenic Disorders Using Cell-Free DNA 318 Ignatia B Van den Veyver, Natalie Chandler and Lyn S Chitty 9 Amniocentesis, ChorionicVillus Sampling, and Fetal Blood Sampling .346 Anthony O Odibo 10 PrenatalDiagnosis ofNeural TubeDefects 375 Aubrey Milunsky 11 Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis 404 Peter A Benn 12 PrenatalDiagnosis of Sex Chromosome Abnormalities 499 Jeff M Milunsky 13 PrenatalDiagnosis of Chromosomal Abnormalities: FromKaryotype toMicroarray 547 Brynn Levy 14 MolecularGenetics and PrenatalDiagnosis 572 Jeff M Milunsky 15 PrenatalDiagnosis of Cystic Fibrosis 611 Wayne W Grody 16 PrenatalDiagnosis and the Spectrumof Involvement fromFragile XMutations 629 Randi J Hagerman and Paul J Hagerman 17 PrenatalDiagnosis of FetalMalformations byUltrasound .647 Liesbeth van Leeuwen, Malou A Lugthart and Eva Pajkrt 18 Prenatal Diagnosis and Management of Abnormal Fetal Development in theThird Trimester of Pregnancy 701 Roland Axt-Fliedner and AlineWolter 19 PrenatalDiagnosis by FetalMagnetic Resonance Imaging .760 Nadine Girard and Kathia Chaumoitre 20 PrenatalDiagnosis of SkeletalDysplasias and Connective TissueDisorders 783 Andrea Superti-Furga and Sheila Unger 21 PrenatalDiagnosis ofDisorders of CarbohydrateMetabolism 803 Deeksha Sarihyan Bali, Stephanie L Austin and Priya S Kishnani 22 Disorders ofMetabolismof Amino Acids and Related Compounds 831 Andrea Gropman, Georgianne Arnold and Jerry Vockley 23 The Mucopolysaccharidoses: Prenatal Diagnosis, Neonatal Screening and Emerging Therapies 868 Lorne A Clarke 24 Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies 890 Ronald J.A.Wanders and Hans R.Waterham 25 PrenatalDiagnosis ofDisorders of LipidMetabolism 910 James E Davison, Steven E Humphries, Bryan G.Winchester and Sara E Mole 26 PrenatalDiagnosis of Primary ImmunodeficiencyDiseases 982 Jennifer M Puck 27 PrenatalDiagnosis of theHemoglobinopathies 1002 John M Old and Jan Traeger-Synodinos 28 PrenatalDiagnosis of InheritedDisorders of Folate and CobalaminMetabolism .1035 David S Rosenblatt andDavidWatkins 29 Fetal Surgery .1050 Michael A Belfort and Alireza A Shamshirsaz 30 In Utero StemCell Transplantation, Enzyme Replacement, andGeneTherapy 1105 Tippi C MacKenzie andMarisa E Schwab 31 MaternalGeneticDisordersThat Affect FetalHealth 1120 Karin J Blakemore 32 Pregnancy Termination forGeneticDisorders: Indications and Complications 1158 Lee P Shulman 33 Providing Supportive Psychosocial Care to Parents after Perinatal Loss 1179 Marianne H Hutti 34 PrenatalDiagnosis of Fetal Infection 1197 Marianne Leruez-Ville, Valentine Faure-Bardon and Yves G Ville 35 Medicolegal Aspects of PrenatalDiagnosis 1236 EllenWright Clayton 36 Prenatal and PreimplantationDiagnosis: International Policy Perspectives 1250 Minh Thu Minh Nguyen and Bartha Maria Knoppers 37 Ethical Issues in theDiagnosis andManagement ofGeneticDisorders in the Fetus 1267 Frank A Chervenak and Laurence B McCullough Index 1294

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Genetic disorders and the fetus : diagnosis, prevention, and treatment

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