Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment 8E

Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Eighth Edition is the eagerly awaited new edition of the discipline-leading work that has been at the forefront of diagnosis, prevention, and treatment of fetal genetic disorders for over 36 years.

This timely update 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. Chapters are once again authored by internationally recognized authorities in the field 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.

Table of contents

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