Genetics Diagnosis, Inborn Errors of Metabolism and Newborn Screening: An Update, An Issue of Clinics in Perinatology

Michael J. Gambello

Description

Genetic testing and genome sequencing have opened up the possibility to clinicians and families to treat diseases, syndromes, and malformations earlier and provide therapeutic interventions.The guest editors seek to provide a basic overview of the topic for the neonatologist/perinatologist. Articles addres dysmorphology, syndromes in the infant, skeletal dysplasias, limb malformations, craniofacial anomolies, GI/liver disease, disorders of sexual develoment, brain defects, inborn errors of metabolism, and congenital heart disease.

Sujets

• Médecine
• Spécialités médicales
• Gynécologie et Obstétrique
• Médecine de laboratoire
• Perinatology
• Medical
• Neonatology

Informations

• Publié par: Elsevier
• Date de parution: 12 août 2015
• Nombre de lectures: 1
• EAN13: 9780323356855
• Langue: English
• Poids de l'ouvrage: 2 Mo

Extrait

Clinics Review Articles CLINICS IN PERINATOLOGY
Genetics Diagnosis, Inborn Errors of Metabolism and Newborn Screening: An Update

Michael J. Gambello, MD, PhD
Department of Human Genetics and Pediatrics, Emory University School of Medicine, Atlanta, GA, USA

V. Reid Sutton, MD
Department of Molecular & Human Genetics, Baylor College of Medicine & Texas Children’s Hospital, Houston, TX, USA
ISSN  0095-5108 Volume 42 • Number 2 • June 2015
Elsevier
Table of Contents
Cover image
Title page
Copyright
Contributors
Consulting Editor
Editors
Authors
CME Accreditation Page
Target Audience
Learning Objectives
Accreditation
Disclosure of Conflicts of Interest
Unapproved/Off-Label Use Disclosure
To Enroll
Method of Participation
CME Inquiries/Special Needs
Forthcoming Issues
Forthcoming Issues
Recent Issues
Erratum
Foreword: The Future of Personalized and Precision Perinatal Medicine
Preface: Genetics in the Twenty-First Century
Gamut of Genetic Testing for Neonatal Care
Key points
Introduction
Cytogenetic testing
Microarray-based chromosomal microarray
Compendium of molecular genetic testing assays
Summary
Copy Number Variants, Aneuploidies, and Human Disease
Key points
Introduction
Methods for the detection of copy number variants
Prenatal diagnosis of copy number variants
Copy number detection in the neonatal period
Clinical interpretation of copy number variants
Summary
Evaluation and Diagnosis of the Dysmorphic Infant
Key points
Introduction
Birth parameters
Aplasia cutis congenita
Holoprosencephaly
Asymmetric crying facies
Preauricular ear tags and pits
Orofacial clefting
Cardiac defects
Esophageal atresia/tracheoesophageal fistula
Ventral wall defects
Polydactyly
Summary
Recognizable Syndromes in the Newborn Period
Key points
Introduction
Text
Craniofacial syndromes
Syndromes with hypotonia
Cardiac syndromes
Gastrointestinal syndromes
Syndromes with skin findings
Aneuploidy syndromes
Microdeletion syndromes
Metabolic syndromes
Syndrome of unknown cause
Summary/discussion
Congenital Limb Deficiency Disorders
Key points
Introduction
Diagnostic evaluation
Specific limb deficiencies
Management
Future directions
Summary
Skeletal Dysplasias
Key points
Embryology
Genetics
Prenatal diagnosis of osteochondrodysplasias
Defining lethality
Diagnosis of a skeletal dysplasia
Commonly seen disorders
Type II collagenopathies
Long-term follow-up
Newborn Craniofacial Malformations
Key points
Introduction
Orofacial clefting
Craniosynostosis
Pathogenesis
Treatment
The multidisciplinary craniofacial clinic
Structural Brain Defects
Key points
Introduction
Neuroimaging the brain in genetic disorders
Heterotopias, dysplasias, and other malformations of cortical development
Peroxisomal disorders
Corpus callosum
Cerebellar and brainstem dysgenesis
Vascular dysgenesis
Miscellaneous disorders
Lysosomal disorders
Summary
Neonatal Hypotonia
Key points
Introduction
Clinical presentation
Diagnostic algorithm
Diagnostic evaluation
Laboratory and other testing
Summary
Genetics and Genetic Testing in Congenital Heart Disease
Key points
Introduction
Genetics and recurrence
Diagnostic evaluation
Genetic testing and emerging technologies
Summary
Disorders of Sexual Development
Key points
Introduction
Normal sexual development
Normal male development
Normal female development
Clinical presentation of disorders of sexual development
Diagnostic evaluation
Categories of disorders of sexual development
46,XX disorders of sexual development
46,XY disorders of sexual development
Sex chromosome disorders of sexual development
Summary/Discussion
Inborn Errors of Metabolism
Key points
Introduction
Clinical manifestations
Principles of management
Inborn errors of metabolism with metabolic acidosis
Inborn errors of metabolism with hypoglycemia
Inborn errors of metabolism with hyperammonemia
Inborn errors of metabolism with neonatal seizure
Inborn errors of metabolism with hypotonia
Inborn errors of metabolism with hepatic manifestations
Inborn errors of metabolism with cardiomyopathy
Newborn Screening
Key points
What is newborn screening?
Newborn screening and public health
History and progress of newborn screening
Who decides what disorders are included?
Conditions included in the United States recommended uniform screening panel
Responsibilities of the neonatologist in newborn screening
Diagnostic dilemmas in the low-birth-weight or stressed infant affecting newborn blood spot screening
Maternal effects on newborn screening
Controversies in newborn screening
Newborn screening: the future
Index
Copyright
ELSEVIER
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CLINICS IN PERINATOLOGY Volume 42, Number 2
June 2015 ISSN 0095-5108, ISBN-13: 978-0-323-35662-6
Editor: Kerry Holland
Developmental Editor: Casey Jackson
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Contributors

Consulting Editor
LUCKY JAIN, MD, MBA
Richard W. Blumberg Professor and Executive Vice Chairman, Department of Pediatrics, Emory University School of Medicine; Executive Medical Director, Children's Healthcare of Atlanta Faculty Practices, Atlanta, Georgia

Editors
MICHAEL J. GAMBELLO, MD, PhD
Associate Professor, Department of Human Genetics and Pediatrics; Section Chief, Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta