Description
Avery’s Diseases of the Newborn 11th Edition by Taylor Sawyer, ISBN-13: 978-0323828239
[PDF eBook eTextbook] – Available Instantly
- Publisher : Elsevier
- Publication date : June 6, 2023
- Edition : 11th
- Language : English
- ISBN-10 : 032382823X
- ISBN-13 : 978-0323828239
NOTE: This book is a standalone book and will not include any access codes.
The most trusted resource among neonatal care providers for more than 60 years.
Completely revised and updated, Avery’s Diseases of the Newborn, 11th Edition, remains your #1 choice for clinically focused, cutting-edge guidance on the evaluation, diagnosis, and treatment of diseases of the newborn. Drs. Christine A. Gleason, Taylor Sawyer, and a team of expert contributing authors provide comprehensive, up-to-date coverage of every key disease and condition affecting newborns, keeping you current in this fast-changing field. You’ll find the specific strategies you need to confidently provide care for this unique patient population, in a full-color, easy-to-use single volume that focuses on key areas of practice.
- Reflects the latest developments on all aspects of newborn evaluation and management, featuring new content, new chapters, new contributors, and fresh perspectives from a new co-editor
- Brings you the latest on current topics such as perinatal/neonatal COVID-19, genomics and precision medicine, acute and chronic neonatal respiratory disorders, brain injury and neuroprotection, necrotizing enterocolitis, probiotics, palliative care, prenatal drug exposure, retinopathy of prematurity, and more
- Provides clinically relevant, practical guidance in concise, focused chapters that include summary boxes, suggested readings, and more than 500 full-color illustrations, micrographs, and photographs
- Contains the 2020 American Academy of Pediatrics and American Heart Association neonatal resuscitation guidelines and the 2022 American Academy of Pediatrics guidelines on the management of hyperbilirubinemia
- Serves as a reliable quick reference for clinical questions and an excellent resource for board review
Table of Contents:
Cover image
Title page
Table of Contents
Copyright
Dedication
Contributors
Preface
The History of Diseases of the Newborn
What’s New and Improved About This Edition?
Do We Still Need Textbooks?
Acknowledgments and Gratitude
Videos
Part I: Overview
1. Neonatal and Perinatal Epidemiology
Abstract
Introduction—Epidemiologic Approaches to the Perinatal and Neonatal Period
Health Disorders of Pregnancy and the Perinatal Period
Factors Affecting Perinatal Health
Epidemiologic Study Designs in the Perinatal Period
Summary and Conclusions
Acknowledgments
References
Suggested Readings
2. Ethics, Data, and Policy in Newborn Intensive Care
Abstract
Background
Getting Data
Getting Data that Matters
Policy Implications of Limited Data
Implications of Increasingly Available Data
Summary
Acknowledgment
References
Suggested Readings
Part II: Fetal Growth and Development
3. Development, Function, and Pathology of the Placenta
Abstract
Development of the Placenta
Placental Functions
Regulation of Placental Function
Suggested Readings
References
4. Abnormalities of Fetal Growth
Abstract
Definitions
Patterns of Altered Growth
Fetal Causes of Growth Restriction
Placental Causes of Growth Restriction
Maternal Causes of Growth Restriction
Smoking
Short-Term Outcomes
Developmental Outcomes: Early Childhood
Long-Term Consequences: The Developmental Origins of Adult Disease
Epidemiologic Challenges
Size at Birth Cannot Be Used as a Proxy for Fetal Growth
Genetics versus Environment
Cellular Mechanisms
Molecular Mechanisms: Epigenetics
Macrosomia
Summary
Suggested Readings
References
5. Multiple Gestations and Assisted Reproductive Technology
Abstract
Epidemiology of Multiples
Diagnosing Zygosity and Chorionicity
The Effect of Chorionicity
Increase in Monozygotic Twins With Assisted Reproductive Technology
Neonatal Complications Associated With Multiples
Fetal Complications
Maternal Complications
Psychosocial Factors
Cost
Decreasing the Risk of Multiples
Multifetal Pregnancy Reduction
Summary
Acknowledgment
Suggested Readings
References
6. Prematurity and Stillbirth: Causes and Prevention
Abstract
Preterm Birth and Stillbirth: Burden in the United States and Global Estimates
Pathophysiology of Preterm Birth and Stillbirth
Demographic Factors and Disparities
Environmental Factors
Nutrition and Maternal Body Weight
Infection and Microbiota
SARS-CoV-2 Infection in Pregnancy
Genetic Factors
Placental and Pregnancy Factors
Prevention of Preterm Birth
Summary
Suggested Readings
References
7. Nonimmune Hydrops
Abstract
Incidence
Etiology
Pathophysiology
Derangements in Fluid Homeostasis
Neonatal Evaluation
Intensive Care of the Infant With Hydrops Fetalis
Clinical Course and Outcome
Suggested Readings
References
Part III: Maternal Conditions Affecting Pregnancy Outcomes
8. Maternal Diabetes
Abstract
Types of Diabetes
Association Between Perinatal Outcomes and Periconception Glycemic Control
Fetal Growth and Macrosomia
Maternal Preeclampsia
Obstetric Management of Diabetes in Pregnancy
Neonatal Considerations
Suggested Readings
References
9. Maternal Medical Disorders of Fetal Significance
Abstract
General Principles in the Diagnosis and Management of Medical Complications During Pregnancy
Autoimmune Disorders
Cardiovascular Disease
Renal Disease
Cancer
Maternal Seizure Disorders
Perinatal Mood and Anxiety Disorders
References
Suggested Readings
10. Hypertensive Complications of Pregnancy
Abstract
Classification of Hypertensive Disorders of Pregnancy
Chronic Hypertension
Gestational Hypertension
Preeclampsia-Eclampsia
Eclampsia
Suggested Readings
References
11. Intrauterine Drug Exposure: Fetal and Postnatal Effects
Abstract
Introduction
Epidemiology of Perinatal Substance Exposure
Perinatal Exposure to Specific Substances
Screening Pregnant Persons for Substance Use Disorder
Medication-Assisted Treatment for Opioid Use Disorder During Pregnancy
Neonatal Management After Gestational Substance Exposure
Conclusions
Suggested Readings
References
Part IV: Labor and Delivery
12. Assessment of Fetal Well-Being
Abstract
General Principles
Fetal Assessment in Low-Risk Pregnancies
Fetal Assessment in High-Risk Pregnancies
Summary
Suggested Readings
References
13. Complicated Deliveries
Abstract
Overview
Vaginal Delivery
Cesarean Section
Operative Vaginal Delivery: Obstetric Forceps and Vacuum Extraction
Shoulder Dystocia
Vaginal Breech Delivery
Multifetal Delivery
Vaginal Birth After Cesarean: Neonatal Concerns
Suggested Readings
References
14. Obstetric Analgesia and Anesthesia
Abstract
Anatomy of Labor Pain
Changes in Maternal Physiology and the Implications
Analgesic Options for Labor and Vaginal Delivery
Neuraxial Opioids
Summary
Suggested Readings
References
15. Perinatal Transition and Newborn Resuscitation
Abstract
Transition from Fetal to Extrauterine Life
Birth Environment and Preparation for the Delivery
Newborn Resuscitation
Apgar Score
Delivery Room Monitoring
Specific Problems Encountered During Resuscitation
Limits of Viability
Post-resuscitation Care
Acknowledgment
Suggested Readings
References
Part V: Essentials of Newborn Care
16. Care of the Newborn
Abstract
Introduction
Initial Newborn Evaluation
Routine Management of the Newborn
Common Problems in Newborn Care
Acknowledgments
Suggested Readings
References
17. Temperature Regulation
Abstract
Mechanisms of Heat Loss
Mechanisms of Thermoregulation
Thermal Management Strategies
Warming Infants
Weaning to an Open Crib
Additional Considerations
Suggested Readings
References
18. Newborn Screening
Abstract
Screening Procedure
Disorders Screened
Specific Issues in Newborn Screening
The Future
Suggested Reading
References
Part VI: High-Risk Newborn Care
19. Neonatal Transport
Abstract
Regionalization of Neonatal Care, Care in the Community, and Transfer Agreements
Transport Communication
Medical Supervision
Mode of Transport
Transport Personnel, Education, and Team Composition
Quality Improvement
Transport Administration
Transport Team Safety Training and Protocols
Family-Centered Care
Medical Legal Issues
Patient Care During Transport
Future Directions
Suggested Readings
References
20. Fluid, Electrolyte, and Acid-Base Balance
Abstract
Fluid and Electrolyte Balance
Acid-Base Balance
Suggested Readings
References
21. Neonatal Pharmacology
Abstract
Principles of Neonatal Therapeutics
Pharmacogenetics and Pharmacogenomics
Pharmacokinetic Principles
Clinical Applications of Pharmacokinetics
Drug Elimination in Breast Milk
Neonatal Drug Development Remains an Obvious and Shared Need
Summary
Suggested Readings
References
22. Neonatal Pain and Stress
Abstract
Background
Taxonomy
Ontogeny and Development of Pain and Stress Responses
Recognizing and Treating Pain
Long-Term Consequences of Neonatal Pain and Stress
Clinical Pain and Stress Management Strategies
Pharmacologic Analgesia
Nonpharmacologic Analgesia
Summary
Suggested Readings
References
23. Palliative Care
Abstract
What is Palliative Care?
Paradigms of Palliative Care
Scope of the Problem
Which Patients Benefit from Neonatal-Perinatal Palliative Care?
Timing of the News
Ethical Concerns
Barriers to Palliative Care in the Neonatal Intensive Care Unit
Training in Neonatal–Perinatal Palliative Care
Research Opportunities/Future Directions
Suggested Readings
References
24. Risk Assessment and Neurodevelopmental Outcomes
Abstract
Outcome Assessment in High-Risk Infants
Outcomes of Preterm Infants Across the Life Spectrum
Risk Factors for Adverse Outcomes in Preterm Infants
Other Infants at High Risk for Adverse Outcomes
Postdischarge Management of the High-Risk Infant
Suggested Readings
References
Part VII: Genetics
25. The Human Genome and Neonatal Care
Abstract
The Human Genome Project and the Big Picture of Genomic Medicine
The Genome and Genomics
Mitochondrial Deoxyribonucleic Acid
Variations in the Human Genome
Variant Counts in Individuals
Linking Genes and Diseases
Clinical Application of Next-Generation Sequencing
Incidental Findings
Genomics of Common Complex Diseases Associated With Prematurity
Retinopathy of Prematurity
Necrotizing Enterocolitis
Intraventricular Hemorrhage
Bronchopulmonary Dysplasia
Conclusion
Suggested Readings
References
26. Prenatal Diagnosis and Counseling
Abstract
Background
Invasive Prenatal Diagnostic Procedures
Percutaneous Umbilical Cord Blood Sampling
Genetic Testing of the Fetus
Noninvasive Prenatal Screening
Prenatal Fetal Imaging
Preimplantation Genetic Diagnosis/Screening
Building a Prenatal Diagnosis Center
A Practical Guide to Prenatal Counseling
The Role of a Neonatologist in Prenatal Diagnosis Clinic
Summary
Suggested Readings
References
27. The Dysmorphic Infant
Abstract
When and Why to Consider a Genetic Evaluation
Patterns of Anomalies
Genetics Evaluation
Specialized Clinical Evaluations
Literature Review
Specialized Laboratory Tests
Diagnosis
Summary
Suggested Online Resources
Suggested Readings
References
28. Chromosome Disorders
Abstract
Human Karyotype
Trisomies
Deletion Syndromes
Segmental Duplications and Microdeletion/Microduplication Syndromes
Additional Microdeletion and Microduplication Syndromes
Disorders of Imprinted Chromosomes
Future Directions: Characterization of Structural Variation by Genome Sequencing
Suggested Readings
References
Part VIII: Metabolic Disorders of the Newborn
29. Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism
Abstract
Carbohydrate Metabolism Disorders
Urea Cycle Disorders
Amino Acid Metabolism Disorders
Organic Acidemias
Fatty Acid Oxidation Disorders
Ketone Metabolism Disorders
Mitochondrial Disorders
Suggested Readings
References
30. Lysosomal Storage Disorders Presenting in the Neonate
Abstract
Introduction
Suggested Readings
References
31. Congenital Disorders of Glycosylation, Peroxisomal Disorders, and Smith-Lemli-Opitz Syndrome
Abstract
Congenital Disorders of Glycosylation
Peroxisomal Disorders
Smith-Lemli-Opitz Syndrome
Suggested Readings
References
Part IX: Immunology and Infections
32. Immunology of the Fetus and Newborn
Abstract
Maternal and Placental Immunology
Developmental Fetal–Neonatal Immunology
Specific Immunologic Deficiencies of the Newborn
Implications of Studies of Immune Ontogeny for Enhancing Neonatal Immunization
Acknowledgments
Suggested Readings
References
33. Neonatal Bacterial Sepsis and Meningitis
Abstract
Early-Onset Neonatal Bacterial Infections
Clinical Signs of Early-Onset Bacterial Infections
Evaluation of Early-Onset Bacterial Infections
Late-Onset Neonatal Bacterial Infections
Neonatal Bacterial Meningitis
Suggested Readings
References
34. Viral Infections of the Fetus and Newborn
Abstract
Introduction
General Diagnostic Concepts
Cytomegalovirus
Rubella
Human Parvovirus B19
Zika Virus
Lymphocytic Choriomeningitis Virus
Herpes Simplex Viruses
Varicella-Zoster Virus
Human Immunodeficiency Virus
Hepatitis Viruses
Hepatitis B Virus
Hepatitis C Virus
Enteroviruses and Parechoviruses
Respiratory Viruses
Respiratory Syncytial Virus
Influenza
Adenoviruses
Gastroenteritis Viruses
Human Herpesviruses 6, 7, and 8
Epstein-Barr Virus
Suggested Readings
References
35. Congenital Toxoplasmosis, Syphilis, Malaria, and Tuberculosis
Abstract
Congenital Toxoplasmosis
Congenital Syphilis
Congenital Malaria
Congenital Tuberculosis
Suggested Readings
References
36. Fungal Infections in the Neonatal Intensive Care Unit
Abstract
Epidemiology
Pathophysiology
Infections Caused by Candida Species
Antifungal Therapy for Systemic Infection
Antifungal Prophylaxis
Infections Ascribable to Other Fungi
Miscellaneous Fungal Infections
Suggested Readings
References
37. Healthcare-Associated Infections
Abstract
Defining Neonatal Healthcare-Associated Infection
Diagnosing Neonatal Healthcare-Associated Infection
Healthcare-Associated Infection Surveillance and Data Sources
Epidemiology of Healthcare-Associated Infection
Healthcare-Associated Infection: Distribution by Pathogen
Prevention of Healthcare-Associated Infection
Antibiotic and Adjunctive Therapies
Adverse Outcomes Related to Healthcare-Associated Infection
Suggested Readings
References
Part X: Respiratory System
38. Lung Development
Abstract
Key Events in Lung Development
Mechanisms of Lung Development
Molecular Basis for Lung Development
Novel Concepts in Lung Development
Suggested Readings
References
39. Neonatal Pulmonary Physiology
Abstract
Lung Volumes and Lung Mechanics
Respiratory System Compliance
Airway Resistance
Inertance
Dynamic Interaction
Work of Breathing
Time Constants
Measurements of Respiratory System Mechanics
Pulmonary Gas Exchange
Acknowledgment
Suggested Readings
References
40. Neonatal Respiratory Therapy
Abstract
Respiratory Support
Invasive Mechanical Ventilation
Inspired Gas Conditioning
Other Respiratory Gases
Extracorporeal Membrane Oxygenation
Types of Extracorporeal Membrane Oxygenation
Liquid Ventilation
Monitoring Respiratory Status
Acknowledgment
Suggested Readings
References
41. Control of Breathing
Abstract
Animal Models of Control of Breathing
Respiratory Muscles
Brainstem Rhythmogenesis
Neurochemical Control of Respiration
Genetic Mutations Affecting Respiratory Control
Bronchopulmonary Reflexes That Modulate the Central Respiratory Network
Maturation of CO2/H+ Sensitivity of Central Chemoreceptors
Maturation of O2 Sensitivity of Peripheral Arterial Chemoreceptors
Hypoxic Ventilatory Depression: Consequences for the Neonate
Effect of Sleep State on Breathing
Apnea of Prematurity
Therapeutic Approaches
Suggested Readings
References
42. Acute Neonatal Respiratory Disorders
Abstract
Evaluation of the Newborn With Hypoxemia/Respiratory Distress
History
Physical Examination
Response to Supplemental Oxygen
Interpretation of Pulse Oximetry Measurements
Laboratory and Radiologic Evaluation
Echocardiography
Persistent Pulmonary Hypertension of the Newborn
Specific Pulmonary Conditions Causing Respiratory Distress in the Newborn
Respiratory Distress Syndrome
Risk Factors
Pathophysiology
Surfactant Physiology
Clinical Signs
Laboratory Features
Radiographic Features
Treatment
Exogenous Surfactant
Pulmonary Hemorrhage
Pulmonary Hypoplasia
Pneumonia
Transient Tachypnea of the Newborn
Congenital Diaphragmatic Hernia
Surfactant Protein Deficiency
Alveolar Capillary Dysplasia/Misalignment of Pulmonary Veins
Pulmonary Interstitial Glycogenosis
Summary
Acknowledgment
Suggested Readings
References
43. Chronic Neonatal Respiratory Disorders
Abstract
Key Points
Introduction
Epidemiology of Bronchopulmonary Dysplasia and the Vulnerable Preterm Lung
Pharmacological Prevention of Bronchopulmonary Dysplasia
Persistent Respiratory Morbidity in Former Preterm Newborns
Wheeze, Asthma, and Lung Function in Former Preterm Newborns
Conclusions
Suggested Readings
References
44. Anatomic Disorders of the Chest and Airways
Abstract
Anomalies of the Airways
Disorders of the Mediastinum
Disorders of the Chest Wall
Disorders of the Pleural Cavity
Congenital Thoracic Masses and Cysts
Disorders of the Diaphragm
Acknowledgments
Suggested Readings
References
Part XI: Cardiovascular System
45. Developmental Biology of the Heart
Abstract
Overview of Cardiac Developmental Anatomy
Cell Types Within the Heart and Their Origins
Gastrulation and the Cardiac Crescent
Looping and Laterality of the Heart Tube
Ventricular Inlet Septation: Endocardial Cushions
Ventricular Outflow Tract Septation: Endocardial Cushions and Neural Crest
Separation of Aorta and Pulmonary Artery
Cardiac Valve Formation
Development of the Ventricles and Ventricular Septum
Development of the Atria and Atrial Septum
Systemic and Pulmonary Vein Development
Aortic Arch Development
Coronary Arteries
Conduction System
Conclusion
Suggested Readings
References
46. Cardiovascular Compromise in the Newborn Infant
Abstract
Principles of Developmental Cardiovascular Physiology and Pathophysiology, Phases, and Etiology of Neonatal Shock
Clinical Presentations of Shock in Neonates Associated With Multiple Etiologic Factors
Diagnosis of Circulatory Compromise
Treatment of Neonatal Shock
Extracorporeal Membrane Oxygenation (ECMO) for Circulatory Support
General Supportive Measures
Suggested Readings
References
47. Persistent Pulmonary Hypertension
Abstract
Introduction
Pathophysiology
Risk Factors
Abnormal Pulmonary Vasoregulation in PPHN
Disorders Associated With Pulmonary Hypertension at Birth
Clinical Evaluation and Diagnosis
General Management
Oxygen
Inhaled Nitric Oxide
Other Therapeutic Agents
Outcomes
Summary
Suggested Readings
References
48. Patent Ductus Arteriosus in the Preterm Infant
Abstract
Introduction
Incidence (Table 48.1)
Hemodynamic and Pulmonary Alterations
Treatment
Selected Readings
References
49. Perinatal Arrhythmias
Abstract
Conduction System of the Human Heart
Neonatal ArrhythmiasAbnormalities in Cardiac Conduction
Abnormalities in Cardiac Rhythm
Tachyarrhythmias
Management Considerations for Neonatal Tachyarrhythmias
Bradyarrhythmias
Fetal Arrhythmias
Benign Arrhythmias
Fetal Tachycardias
Fetal Bradycardia
Suggested Readings
References
50. Congenital Heart Disease
Abstract
General Considerations
Murmurs in the Newborn—Congenital Cardiac Lesions
Cyanosis in the Newborn
Lesions That Present Primarily With Heart Failure
Anomalous Origin of the Left Coronary Artery From the Pulmonary Artery
Acknowledgments
Suggested Readings
References
51. Long-Term Neurologic Outcomes in Children With Congenital Heart Disease
Abstract
Structural and Developmental Abnormalities of the Brain in Congenital Heart Disease
Acquired Brain Injury With Congenital Heart Disease: Characteristics and Risk Factors
Conclusion
Suggested Readings
References
Part XII: Neurologic System
52. Central Nervous System Development
Abstract
Neuronal Production and Migration
Programmed Neuronal Death
Organization of the Central Nervous System
Glial Proliferation, Differentiation, and Myelination
The Environment and Epigenetics
Suggested Readings
References
53. Congenital Malformations of the Central Nervous System
Abstract
Prosencephalic Cleavage and Related Events
Disorders of Structures Derived From the Prosencephalon
Cortical Defects in Size and Organization
Cortical Defects in Proliferation and Neuronal Survival
Cortical Defects in Migration
Malformations of Structures in the Posterior Fossa
Malformations With Major Cerebellar Involvement
Malformations With Both Cerebellar and Brainstem Involvement
Malformations With Brainstem Involvement
Neural Tube Defects and Spinal Cord Dysraphisms
Acknowledgment
Suggested Readings
References
54. Brain Injury in the Preterm Infant
Abstract
General Principles of Preterm Brain Injury
Intraventricular and Periventricular Hemorrhage
White Matter Injury
Preterm Cerebral Gray Matter Injury
Summary
Suggested Readings
References
55. Neonatal Encephalopathy
Abstract
Neonatal Encephalopathy
Hypoxic-Ischemic Encephalopathy
Other Causes of Neonatal Encephalopathy
Metabolic Causes of Neonatal Encephalopathy
Genetic Causes of Neonatal Encephalopathy
Central Nervous System Infections and Neonatal Encephalopathy
Suggested Readings
References
56. Neonatal Neurovascular Disorders
Perinatal Stroke
Sinus Venous Thrombosis
Subdural and Subarachnoid Hemorrhages
Vascular Malformations
Vein of Galen Malformation
Acknowledgment
Suggested Readings
References
57. Neonatal Neuromuscular Disorders
Abstract
Neonatal Neuromuscular Disorders
Primary Muscle Disorders
Congenital Muscular Dystrophies
LAMA2-Related Congenital Muscular Dystrophy (Merosin-Deficient Congenital Muscular Dystrophies; MDC1A)
Congenital Myopathies
Congenital Myotonic Dystrophy
Metabolic Myopathies
Motor Neuron Disorders
Neonatal Neuromuscular Junction Disorders
Congenital Myasthenic Syndromes
Peripheral Neuropathies
Approach to the Hypotonic Newborn
Suggested Readings
References
58. Neonatal Seizures
Abstract
Neonatal Seizures
Classification of Neonatal Seizures
Evaluation of Neonatal Seizure
Etiologies of Neonatal Seizures
Neonatal Epilepsy Syndromes
Management of Neonatal Seizures
Outcomes of Neonatal Seizures
Suggested Readings
References
Part XIII: Gastrointestinal System and Nutrition
59. Enteral Nutrition
Abstract
Macronutrient Requirements
Micronutrients, Vitamins, Minerals, and Trace Element Requirements
Options for Enteral Nutrition
Special Issues/Contraindications to Mother’s Own Milk
Donor Human Milk
Human Milk Fortification
Initiation, Mode, and Advancement of Enteral Feedings
Infant Nutrition and Growth
Suggested Readings
References
60. Parenteral Nutrition for the High-Risk Neonate
Abstract
Components of Parenteral Nutrition
Complications of Parenteral Nutrition
Use of Parenteral Nutrition in the Neonatal Intensive Care Unit: A Practical Approach
Suggested Readings
References
61. Structural Anomalies of the Gastrointestinal Tract
Disorders of the Oral Cavity
Disorders of the Neck
Disorders of the Esophagus
Disorders of the Stomach
Disorders of the Intestine
Disorders of the Colon and Anus
Acknowledgment
Suggested Readings
References
62. Abdominal Wall Defects
Abdominal Wall Problems
Abdominal Wall Defects
Gastroschisis
Omphalocele
Other Abdominal Wall Defects
Umbilical Abnormalities
Abdominal Wall Hernias
Umbilical Cord Abnormalities
Acknowledgment
Suggested Readings
References
63. Neonatal Gastroesophageal Reflux
Gastroesophageal Reflux
Suggested Readings
References
64. Necrotizing Enterocolitis and Short Bowel Syndrome
Necrotizing Enterocolitis
Short Bowel Syndrome
Suggested Readings
References
65. Disorders of the Liver
Neonatal Liver Disease
Cholestatic Liver Disease
Metabolic Liver Disease
Gestational Alloimmune Liver Disease
Vascular Malformations
Liver Masses
Suggested Readings
References
Part XIV: Hematologic System and Disorders of Bilirubin Metabolism
66. Developmental Hematology
Introduction to Embryonic Hematopoiesis
Developmental Aspects of Erythropoiesis
Developmental Aspects of Megakaryocytopoiesis
Developmental Aspects of Granulocytopoiesis
Hematopoietic Cytokines
Acknowledgment
Suggested Readings
References
67. Neonatal Bleeding and Thrombotic Disorders
The Neonatal Hemostatic System
Bleeding Disorders in the Neonate
Neonatal Thrombosis
References
Suggested Readings
68. Neonatal Platelet Disorders
Fetal and Neonatal Platelet Production
Platelet Counts During Development and Reference Ranges
Platelet Function and Primary Hemostasis
Immune Thrombocytopenia
Neonatal Alloimmune Thrombocytopenia
Autoimmune Thrombocytopenia
Congenital Thrombocytopenias
Platelet Function Disorders
Suggested Readings
References
69. Neonatal Erythrocyte Disorders
Normal Erythrocyte Physiology in the Fetus and Newborn
Anemia in the Fetus and Newborn
Hereditary Red Blood Cell Disorders
Hypoplastic Anemia
Physiologic Anemia of Infancy and Anemia Prematurity
Polycythemia
Methemoglobinemia
Acknowledgment
References
Suggested Readings
70. Neonatal Transfusion
Overview
Red Blood Cell Transfusion
Platelet Transfusion
Plasma and Cryoprecipitate Transfusion
Special Circumstances
Decreasing the Need for Red Blood Cell Transfusion
Suggested Readings
References
71. Neonatal Leukocyte Physiology and Disorders
Abstract
Neutrophil Physiology and Function
Monocyte Physiology and Dysfunction
Lymphocyte Contributing to Acquired Immunity
Dendritic Cell Physiology and Function
Innate Lymphoid Cell Physiology and Function
Acknowledgments
Suggested Readings
References
72. Neonatal Hyperbilirubinemia and Kernicterus
Abstract
Hyperbilirubinemia
Increased Hepatic Bilirubin Load: Hemolytic Disease
Decreased Hepatic Bilirubin Clearance
Other Clinically Relevant Icterogenic Conditions
Kernicterus Spectrum Disorders
Acknowledgments
Suggested Readings
References
Part XV: Neoplasia
73. Congenital Malignant Disorders
Abstract
Epidemiology, Etiology, and Diagnosis of Neonatal Malignancy
Specific Neoplasms
Treatment Considerations in Infants
Conclusion
Suggested Readings
References
Part XVI: Renal and Genitourinary System
74. Renal Development
Abstract
Factors Influencing Organogenesis
Development of the Renal Vascular Bed
Renal Morphogenesis
Glomerular Development
Ureteral Growth and Development
Renin–Angiotensin System Interaction for Programming Fetal Development
Renal Ascent
Fetal Programing of Renal Function and the Perinatal Environmental Factor’s Influence
Conclusion
Suggested Readings
References
75. Developmental Abnormalities of the Kidneys
Abstract
Abnormalities of Kidney Number
Abnormalities of Kidney Position
Abnormalities of Kidney Organization
Abnormalities With Kidney Overgrowth
Abnormalities Predominated by Kidney Cysts
Renal Tubular Dysgenesis
Kidney Teratogens
Inborn Errors of Metabolism
Acknowledgments
Suggested Readings
References
76. Developmental Abnormalities of the Genitourinary System
Abstract
Early Kidney and Urinary Tract Embryologic Development
Anomalies of the Kidney
Anomalies of the Ureters
Anomalies of the Bladder
Genital Abnormalities in Males
Female Genital Anomalies
Suggested Readings
References
77. Acute Kidney Injury
Abstract
Acute Kidney Injury
Acute Kidney Injury as a Cause of Long-Term Chronic Kidney Disease
Renal Vascular Disease in the Newborn
References
Suggested Readings
78. Chronic Kidney Disease
Abstract
Chronic Kidney Disease
Epidemiology
Pathophysiology
Clinical Sequelae of Neonatal Chronic Kidney Disease/End-Stage Kidney Disease
Management
Outcomes
References
Suggested Readings
79. Glomerulonephropathies and Disorders of Tubular Function
Abstract
Glomerulonephropathies
Renal Tubular Disorders
Suggested Readings
References
80. Urinary Tract Infections and Vesicoureteral Reflux
Abstract
Urinary Tract Infection
Vesicoureteral Reflux
Suggested Readings
References
81. Systemic Hypertension
Abstract
Factors that Influence Neonatal Blood Pressure
Epidemiology
Pathophysiology
Evaluation
Management
Outcomes
Suggested Readings
References
Part XVII: Endocrine Disorders
82. Developmental Endocrinology
Abstract
Endocrine Systems
Endocrine Organ Development and Perinatal Transition
The Maternal-Placental-Fetal Unit
Hypothalamic and Pituitary Development
Diseases of Hypothalamic or Pituitary Maldevelopment
Adrenal Gland Development
Thyroid Gland Development
Reproductive Axis Development
Development of the Endocrine Pancreas
Development of Parathyroid Glands and Fetal Mineral Homeostasis
Hormonal Regulation of Fetal Growth
Developmental Origin of Health and Disease
Suggested Readings
References
83. Disorders of Calcium and Phosphorus Metabolism
Non-Print Itemabstract
Homeostatic Control of Calcium and Magnesium
Homeostatic Control of Phosphorus
Parathyroid-Renal Hormonal Axis
Perinatal Mineral Metabolism
Metabolic Bone Disease in Newborns and Infants
Vitamin D–Deficiency Rickets
Renal Osteodystrophy
Suggested Readings
References
84. Disorders of the Adrenal Gland
Non-Print ItemAbstract
The Adrenal Gland
Primary Adrenal Disorders
Disorders That Lead to Virilization in Females
Disorders That Lead to Males With Undervirilization
Adrenal Insufficiency Associated With Other Syndromic Disorders
Adrenal Hemorrhage
Secondary and Tertiary Adrenal Insufficiency
Adrenal Crisis in the Neonate
Suggested Readings
References
85. Differences in Sex Development
Abstract
General Considerations in the Approach to the Newborn With Ambiguous Genitalia
Embryology of Sex Determination and Differentiation
Clinical Assessment of Differences of Sex Development
46,XX Differences in Sex Development
46,XY Differences in Sex Development
Gonadal Differentiation and Chromosomal Disorders
Syndromes Associated With Ambiguous Genitalia
Other Disorders of Genital Differentiation
Sex Chromosome Disorders of Sex Development
Surgical Management of Disorders of Sexual Differentiation
Suggested Readings
References
86. Disorders of the Thyroid Gland
Non-Print ItemAbstract
Regulation of Thyroid Function
Thyroid Hormone Synthesis
Serum Protein Binding and Transport
Embryogenesis of Hypothalamic-Pituitary-Thyroid Axis
Fetal–Placental–Maternal Thyroid Interaction
Thyroid System Maturation
Congenital Hypothyroidism
Neonatal Hyperthyroidism
Suggested Readings
References
87. Neonatal Hypoglycemia and Hyperglycemia
Abstract
Introduction
Neonatal Hypoglycemia
Normoinsulinemic Hypoglycemia
Hyperinsulinemic Hypoglycemia
Neonatal Hyperglycemia
Acknowledgments
Suggested Readings
References
Part XVIII: Craniofacial and Orthopedic Conditions
88. Craniofacial Conditions
Abstract
Micrognathia/Robin Sequence
Stickler Syndrome
Orofacial Clefts
22q11.2 Deletion Syndrome
Craniosynostosis
Multiple Suture Synostosis
Disorders of the First and Second Branchial Arches
Moebius Syndrome
Treacher Collins Syndrome
CHARGE Syndrome
Macroglossia/Beckwith-Wiedemann Syndrome
Other Notable Craniofacial Conditions
Prenatal Screening for Fetal Face Anomalies
Acknowledgment
Suggested Reading
References
89. Common Neonatal Orthopedic Conditions
Abstract
Developmental Dysplasia of the Hip
Foot Deformities
Torticollis
Torsional and Angular Deformities of the Lower Extremities
Congenital Vertebral Malformations
Obstetric Trauma
Neonatal Osteomyelitis and Septic Arthritis
Suggested Readings
References
90. Skeletal Dysplasias and Heritable Connective Tissue Disorders
Abstract
Clinical Spectra of Disorders With Common Molecular or Cellular Bases
Approach to Diagnosis
Clinical and Molecular Evaluation
Disorders of Bone Fragility
FGFR3 Spectrum
COL2A1 Spectrum
SLC26A2 Spectrum
Other Skeletal Dysplasias
Heritable Connective Tissue Disorders
Family Support and Education
Suggested Readings
References
Part XIX: Dermatologic Conditions
91. Newborn Skin Development: Structure and Function
Epidermis
Dermoepidermal Junction
Dermis and Subcutis
Appendages
Specialized Skin Cells
Epidermal Stem Cells
Impact of Prematurity
Care of Preterm Skin
General Care of Newborn Skin
Morphologic Approach to Skin Pathology
Collodion Membrane
Vesicopustular and Bullous Eruptions
Blueberry Muffin Babies
Erythroderma
Birthmarks With Neurologic Implications
Suggested Readings
References
92. Congenital and Hereditary Disorders of the Skin
Ichthyoses
Epidermolysis Bullosa
Ehlers–Danlos Syndrome
Cutis Laxa
Ectodermal Dysplasias
Incontinentia Pigmenti
Focal Dermal Hypoplasia (Goltz Syndrome)
Disorders With Generalized Hypopigmentation
Disorders With Localized Hypopigmentation
Congenital Erythropoietic Porphyria
Erythropoietic Protoporphyria and X-Linked Erythropoietic Protoporphyria
Hepatoerythropoietic Porphyria
Suggested Readings
References
93. Infections of the Skin
Staphylococcus aureus Infections
Streptococcus Species Infections
Omphalitis
Candida Species Infections
Primary Cutaneous Aspergillosis
Tinea Capitis and Tinea Corporis
Herpes Simplex Virus Infection
Acknowledgments
Suggested Readings
References
94. Common Newborn Dermatoses
Erythema Toxicum Neonatorum
Transient Neonatal Pustular Melanosis
Eosinophilic Pustular Folliculitis
Acropustulosis of Infancy
Milia
Miliaria
Diagnosis
Epstein Pearls and Bohn Nodules
Sebaceous Hyperplasia
Neonatal Cephalic Pustulosis (Neonatal Acne)
Seborrheic Dermatitis
Atopic Dermatitis
Diaper Dermatitis
Harlequin Color Change
Subcutaneous Fat Necrosis
Cutis Marmorata
Dermal Melanocytosis
Diagnosis
Aplasia Cutis Congenita
Suggested Readings
References
95. Vascular Anomalies and Other Cutaneous Congenital Defects
Vascular Anomalies
Disorders of Pigmentation
Congenital Tumors of Epithelial Origin
Congenital Tumors of Dermal and Subcutaneous Origin
Developmental Anomalies of the Skin
Suggested Readings
References
Part XX: Eyes and Ears
96. Eye and Vision Disorders
General Examination Techniques
Common Diagnostic Problems
Common Ophthalmic Manifestations of Systemic Diseases
Role of the Neonatal Healthcare Provider
Establishment of a Retinopathy of Prematurity Program
Suggested Readings
References
97. Ear and Hearing Disorders
Normal Hearing
Permanent Hearing Loss—The Challenge
Hearing Disorders
Methods for Newborn Hearing Screening
Risk Factors for Permanent Hearing Loss in Infants and Children
Family
Neonatal
After Newborn Hearing Screening: Audiology Diagnostic Protocols
Medical Work-Up for Hearing Loss
Multidisciplinary Care
Communication Options
Comprehensive Early Intervention
Neonatal Intensive Care Unit Infants, Risk Factors, and Hearing Loss
The Brain, Language Outcomes, and Access to Language
Suggested Readings
References
Index
Christine Gleason, M.D. is an academic neonatologist and Professor Emeritus of Pediatrics at University of Washington and Seattle Children’s Hospital. She recently retired from clinical practice and now devotes her time and effort to professional society leadership (Secretary-Treasurer of the American Pediatric Society; member of the Pediatric Policy Council); educational scholarship (Co-Editor of Avery’s Diseases of the Newborn); Board certification (Medical Editor at the American Board of Pediatrics); and advisory/consulting activities (FDA Pediatric Advisory Committee; Data Safety & Monitoring Committee of the NIH’s Maternal-Fetal Medicine Clinical Trials Network).
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