Genetic disorders and the fetus : diagnosis, prevention, and treatment
by
 
Milunsky, Aubrey, editor.

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

Author
Milunsky, Aubrey, editor.

ISBN
9781119676980
 
9781119676959
 
9781119676973

Edition
Eighth edition.

Physical Description
1 online resource

Contents
Genetic Counseling: Preconception, Prenatal, and Perinatal / Aubrey Milunsky, Jeff M Milunsky -- Preimplantation Genetic Testing / Anver Kuliev, Svetlana Rechitsky -- Amniotic Fluid Constituents, Cell Culture, and Neural Tube Defects / Daniel L Van Dyke, Aubrey Milunsky -- Molecular Aspects of Placental Development / Wendy P Robinson, Deborah E McFadden -- Fetal Origins of Adult Health and Disease / Michael G Ross, Mina Desai -- Maternal Serum Screening for Chromosomal Abnormalities and Neural Tube Defects / Howard Cuckle -- Noninvasive Screening for Aneuploidy Using Cell-Free Placental DNA / Lorraine Dugoff -- Noninvasive Prenatal Diagnosis and Screening for Monogenic Disorders Using Cell-Free DNA / Ignatia B Van den Veyver, Natalie Chandler, Lyn S Chitty -- Amniocentesis, Chorionic Villus Sampling, and Fetal Blood Sampling / Anthony O Odibo -- Prenatal Diagnosis of Neural Tube Defects / Aubrey Milunsky -- Prenatal Diagnosis of Chromosomal Abnormalities through Chorionic Villus Sampling and Amniocentesis / Peter A Benn -- Prenatal Diagnosis of Sex Chromosome Abnormalities / Jeff M Milunsky -- Prenatal Diagnosis of Chromosomal Abnormalities: From Karyotype to Microarray / Brynn Levy -- Molecular Genetics and Prenatal Diagnosis / Jeff M Milunsky -- Prenatal Diagnosis of Cystic Fibrosis / Wayne W Grody -- Prenatal Diagnosis and the Spectrum of Involvement from Fragile X Mutations / Randi J Hagerman, Paul J Hagerman -- Prenatal Diagnosis of Fetal Malformations by Ultrasound / Liesbeth Leeuwen, Malou A Lugthart, Eva Pajkrt -- Prenatal Diagnosis and Management of Abnormal Fetal Development in the Third Trimester of Pregnancy / Roland Axt-Fliedner, Aline Wolter -- Prenatal Diagnosis by Fetal Magnetic Resonance Imaging / Nadine Girard, Kathia Chaumoitre -- Prenatal Diagnosis of Skeletal Dysplasias and Connective Tissue Disorders / Andrea Superti-Furga, Sheila Unger -- Prenatal Diagnosis of Disorders of Carbohydrate Metabolism / Deeksha Sarihyan Bali, Stephanie L Austin, Priya S Kishnani -- Disorders of Metabolism of Amino Acids and Related Compounds / Andrea Gropman, Georgianne Arnold, Jerry Vockley -- The Mucopolysaccharidoses: Prenatal Diagnosis, Neonatal Screening and Emerging Therapies / Lorne A Clarke -- Prenatal Diagnosis of the Peroxisomal and Mitochondrial Fatty Acid Oxidation Deficiencies / Ronald JA Wanders, Hans R Waterham -- Prenatal Diagnosis of Disorders of Lipid Metabolism / James E Davison, Steven E Humphries, Bryan G Winchester, Sara E Mole -- Prenatal Diagnosis of Primary Immunodeficiency Diseases / Jennifer M Puck -- Prenatal Diagnosis of the Hemoglobinopathies / John M Old, Jan Traeger-Synodinos -- Prenatal Diagnosis of Inherited Disorders of Folate and Cobalamin Metabolism / David S Rosenblatt, David Watkins -- Fetal Surgery / Michael A Belfort, Alireza A Shamshirsaz -- In Utero Stem Cell Transplantation, Enzyme Replacement, and Gene Therapy / Tippi C MacKenzie, Marisa E Schwab -- Maternal Genetic Disorders That Affect Fetal Health / Karin J Blakemore -- Pregnancy Termination for Genetic Disorders: Indications and Complications / Lee P Shulman -- Providing Supportive Psychosocial Care to Parents after Perinatal Loss / Marianne H Hutti -- Prenatal Diagnosis of Fetal Infection / Marianne Leruez-Ville, Valentine Faure-Bardon, Yves G Ville -- Medicolegal Aspects of Prenatal Diagnosis / Ellen Wright Clayton -- Prenatal and Preimplantation Diagnosis: International Policy Perspectives / Minh Thu Minh Nguyen, Bartha Maria Knoppers -- Ethical Issues in the Diagnosis and Management of Genetic Disorders in the Fetus / Frank A Chervenak, Laurence B McCullough.

Abstract
"The time is fast approaching when virtually all the culprit genes and their mutations for 7,000 rare monogenic disorders1 will be known. Thus far causal single genes and their mutations have been determined for 5,6732 genetic disorders, enabling pre-implantation genetic testing or prenatal genetic diagnosis. These advances using chromosomal microarrays, whole exome sequencing and even whole genome sequencing together with fetal imaging, and non-invasive prenatal testing, expand the era in which all couples have the option of avoiding or preventing having children with irreversible, irremediable, crippling, or lethal monogenic disorders. Primary care physicians, and those in all medical specialties, will need to inform their patients of this key option. This imperative is already partly in current practice. Missing is the requirement of physicians to request and obtain the precise name of the genetic disorder in question or an existing DNA report on a family member, for prospective parents to benefit from available options"-- Provided by publisher.

Local Note
John Wiley and Sons

Subject Term
Prenatal diagnosis.
 
Fetus -- Diseases -- Genetic aspects.
 
Fetus -- Abnormalities -- Genetic aspects.
 
Prenatal Diagnosis
 
Diagnostics prénatals.
 
Fœtus -- Maladies -- Aspect génétique.
 
Fœtus -- Malformations -- Aspect génétique.
 
Fetus -- Abnormalities -- Genetic aspects
 
Fetus -- Diseases -- Genetic aspects

Added Author
Milunsky, Aubrey,
 
Milunsky, Jeff M.,

Electronic Access
https://onlinelibrary.wiley.com/doi/book/10.1002/9781119676980


LibraryMaterial TypeItem BarcodeShelf Number[[missing key: search.ChildField.HOLDING]]Status
Online LibraryE-Book596532-1001RG628 .G46 2021Wiley E-Kitap Koleksiyonu