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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:
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
Acknowledgements
List of Contributors
Preconception
1. Genetic Counseling: Preconception, Prenatal, and Perinatal
- Aubrey Milunsky, MD, DSc., and Jeff Milunsky, MD
2. Preimplantation Genetic Diagnosis
3. Anver Kuliev and Svetlana RechitskyAmniotic Fluid Constituents and Cell Culture
Daniel L. van Dyke PhD and Aubrey Milunsky MB B.Ch, DSc., FRCP, FACMG
4 Molecular Aspects of Placental Development
- Wendy P. Robinson PhD, and Deborah E. McFadden MD
5 Fetal Origins of Adult Disease
- Michael Ross, MD
Maternal Serum and Noninvasive Prenatal Screening
6 Maternal serum screening for chromosomal abnormalities and neural tube defects
- Howard S. Cuckle, PhD
7 NEW CHAPTER – L. DUGOFF [renumbering of chapters required]
8 Noninvasive Screening and Diagnosis for Monogenic Disorders using Cell-Free Fetal DNA
- Ignatia Van Den Veyver, MD and Lynn S. Chitty PhD, MB BS, MRCOG
Invasive Procedures and Prenatal Diagnosis of Neural Tube Defects
9. Chorion Villus Sampling and Amniocentesis: Indications, Procedures, and Risks
- Anthony O. Odibo, MD
10. Prenatal Diagnosis of Neural Tube Defects
Aubrey Milunsky MB B.Ch., D.Sc., FRCP, FACMG
Prenatal Diagnostic Cytogenetics and Molecular Genetics
11. Prenatal Diagnosis of Chromosomal Abnormalities through Chorion Villus Sampling and Amniocentesis
- Peter A. Benn PhD
12 Prenatal Diagnosis of Sex Chromosome Abnormalities
- Jeff Milunsky MD, FACMG
13Prenatal Cytogenomics: Microdeletions and Duplications
- Brynn Levy, PhD
14 Prenatal Molecular Diagnostics
- Jeff Milunsky MD, FACMG
15 Prenatal Diagnosis of Cystic Fibrosis
- Wayne Grody, MD, FACMG
16 Prenatal Diagnosis of the Fragile X Syndrome
- Randi Hagerman MD and Paul Hagerman MD
Prenatal Diagnostic Imaging
17 Prenatal Diagnosis of Fetal Malformations by Ultrasound
- Eva Pajkrt, MD
18 Prenatal Diagnosis and Management of Abnormal Fetal Development in the Third Trimester of Pregnancy
- Roland Axt-Fliedner MD and Aline Wolter MD
19 Prenatal Diagnosis by Fetal Magnetic Resonance Imaging
Nadine Girard MD, PhD and Kathia Chaumoitre MD, PhD
20 Prenatal Diagnosis of Skeletal Dysplasias and Connective Tissue Disorders
- Sheila Unger MD and Andrea Superti-Furga MD
Prenatal Diagnosis of Biochemical Genetic Disorders
21 Prenatal Diagnosis of Disorders of Carbohydrate Metabolism
- Deeksha S. Bali MD
22 Disorders of Metabolism of Amino Acids and Related Compounds
- Andrea Gropman MD
23 Prenatal Diagnosis of the Mucopolysaccharidoses and Postnatal Enzyme Replacement Therapy
- Lorne A. Clarke, MD, PhD
24 Prenatal Diagnosis of Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies
- Ronald J. A. Wanders PhD
25 Prenatal Diagnosis of Disorders of Lipid Metabolism
- Sara Mole MD and James E. Davison MB ChB, PhD, FRCPCH
26 Prenatal Diagnosis of Primary Immunodeficiency Diseases
- Jennifer M. Puck MD
27 Prenatal Diagnosis of Hemoglobinopathies
- J. Traeger-Synodinos MD and John Old MD
28 Prenatal Diagnosis of Disorders of Folate Metabolism
- David Rosenblatt MD and David Watkins PhD
Fetal Therapy
29 Fetal Surgery
- Michael Belfort MD
30 Gene Therapy
- Tippi Mackenzie MD
31 Management of Maternal Genetic Disorders that affect Fetal Health
- Karen E. Blakemore MD
Prevention, Avoidance, and Treatment
32 Induced Abortion for Genetic Indications: Techniques and Complication
- Lee P. Shulman MD
33 Providing Supportive Psychosocial Care to Parents after Perinatal Loss
- Marianne Hutti PhD
34 Prenatal Diagnosis of Fetal Infection
- Yves Ville and Marianne Lerueg-Ville
Law, Ethics, and Public Policy
35 Medicolegal Aspects of Prenatal Diagnosis
- Ellen Wright Clayton MD, JD
36 Prenatal and Preimplantation Diagnosis: International Policy Perspectives
- Minh Thu Nguyen JD and Bartha M. Knoppers PhD
37 Ethical Issues in the Diagnosis and Management of Disorders in the Fetus
- Frank A. Chervenak MD and Laurence B. McCullough PhD
Index
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