Genetic Disorders and the Fetus

Diagnosis, Prevention and Treatment

Aubrey Milunsky, Jeff M. Milunsky

• Publisher: Wiley-Blackwell
• Year: 2021
• Print ISBN: 9781119676935
• eBook ISBN: 9781119676973
• Edition: 8
• Topic: Biological Sciences
• Subtopic: Gynecology, Obstetrics & Midwifery
• Index: Biological Sciences

Explore the latest edition of the definitive resource on prenatal genetic diagnosis

In the newly revised eighthedition of Genetic Disorders and the Fetus, authorsand acclaimed medical doctors, Aubrey and Jeff Milunsky, delivera 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 onpreconception 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

Theeighthedition also contains:

• A thorough discussion of the public policy and ethics of embryo editing, including mitochondrial replacement treatment, and gene patents, prenataldiagnosis, 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 ofneonatologists, genetics counsellors, ethicists, radiologists, andprofessionals working in public policy and health departments.

Table of contents

• Cover
• Title Page
• Copyright
• Contents
• Preface
• Acknowledgments
• Contributors
• Chapter 1 Genetic Counseling: Preconception, Prenatal, and Perinatal
• Chapter 2 Preimplantation Genetic Testing
• Chapter 3 Amniotic Fluid Constituents, Cell Culture, and Neural Tube Defects
• Chapter 4 Molecular Aspects of Placental Development
• Chapter 5 Fetal Origins of Adult Health and Disease
• Chapter 6 Maternal Serum Screening for Chromosomal Abnormalities and Neural Tube Defects
• Chapter 7 Noninvasive Screening for Aneuploidy Using Cell‐Free Placental DNA
• Chapter 8 Noninvasive Prenatal Diagnosis and Screening for Monogenic Disorders Using Cell‐Free DNA
• Chapter 9 Amniocentesis, Chorionic Villus Sampling, and Fetal Blood Sampling
• Chapter 10 Prenatal Diagnosis of Neural Tube Defects
• Chapter 11 Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis
• Chapter 12 Prenatal Diagnosis of Sex Chromosome Abnormalities
• Chapter 13 Prenatal Diagnosis of Chromosomal Abnormalities: From Karyotype to Microarray
• Chapter 14 Molecular Genetics and Prenatal Diagnosis
• Chapter 15 Prenatal Diagnosis of Cystic Fibrosis
• Chapter 16 Prenatal Diagnosis and the Spectrum of Involvement from Fragile X Mutations
• Chapter 17 Prenatal Diagnosis of Fetal Malformations by Ultrasound
• Chapter 18 Prenatal Diagnosis and Management of Abnormal Fetal Development in the Third Trimester of Pregnancy
• Chapter 19 Prenatal Diagnosis by Fetal Magnetic Resonance Imaging
• Chapter 20 Prenatal Diagnosis of Skeletal Dysplasias and Connective Tissue Disorders
• Chapter 21 Prenatal Diagnosis of Disorders of Carbohydrate Metabolism
• Chapter 22 Disorders of Metabolism of Amino Acids and Related Compounds
• Chapter 23 The Mucopolysaccharidoses: Prenatal Diagnosis, Neonatal Screening and Emerging Therapies
• Chapter 24 Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies
• Chapter 25 Prenatal Diagnosis of Disorders of Lipid Metabolism
• Chapter 26 Prenatal Diagnosis of Primary Immunodeficiency Diseases
• Chapter 27 Prenatal Diagnosis of the Hemoglobinopathies
• Chapter 28 Prenatal Diagnosis of Inherited Disorders of Folate and Cobalamin Metabolism
• Chapter 29 Fetal Surgery
• Chapter 30 In Utero Stem Cell Transplantation, Enzyme Replacement, and Gene Therapy
• Chapter 31 Maternal Genetic Disorders That Affect Fetal Health
• Chapter 32 Pregnancy Termination for Genetic Disorders: Indications and Complications
• Chapter 33 Providing Supportive Psychosocial Care to Parents after Perinatal Loss
• Chapter 34 Prenatal Diagnosis of Fetal Infection
• Chapter 35 Medicolegal Aspects of Prenatal Diagnosis
• Chapter 36 Prenatal and Preimplantation Diagnosis: International Policy Perspectives
• Chapter 37 Ethical Issues in the Diagnosis and Management of Genetic Disorders in the Fetus
• Index
• EULA