Principles of Neonatology
- 1st Edition - September 8, 2023
- Editor: Akhil Maheshwari
- Language: English
- Hardback ISBN:9 7 8 - 0 - 3 2 3 - 6 9 4 1 5 - 5
- eBook ISBN:9 7 8 - 0 - 3 2 3 - 6 9 4 1 7 - 9
Written by leading global experts in the field, Principles of Neonatology provides those on the NICU team with clinically focused, evidence-based guidance in an easy-to-access… Read more
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Request a sales quoteWritten by leading global experts in the field, Principles of Neonatology provides those on the NICU team with clinically focused, evidence-based guidance in an easy-to-access format. Chapters cover the key topics of greatest and most frequent concern to clinicians treating newborns, delivering current, data-driven management and treatment advice in a single source relevant to the seasoned practitioner, fellow, or trainee.
- Cover Image
- Title Page
- Copyright
- Dedication
- List of Contributors
- Preface
- Acknowledgments
- Table of Contents
- Section 1 Care of the Premature and Critically-Ill Neonate
- Chapter 1 Design of Neonatal Intensive Care Units
- Introduction
- Patient Safety
- Decrease Stressful Stimuli and Increase Positive Stimuli
- Infection
- Family-Centered Care and Improved Parent-Infant Interactions
- Staffing Patterns, Nursing Workload, and Communication
- Growth and Weight Gain
- Neurodevelopment Outcome
- Hybrid Model
- Impact of the COVID-19 Pandemic
- Summary
- References
- Chapter 2 NICU Environment for Parents and Staff
- NICU Parents
- Opportunities in the NICU for Reducing Distress
- Recommendations to Medical Institutions and Organizations
- References
- Chapter 3 Safe Use of Health Information Technology
- Introduction
- The Need to ACT: A Focus on Access, Communication, and Tracking
- Shared Responsibility in EHR Safety
- EHR Security
- Actions Suggested by The Joint Commission
- Conclusions
- References
- Chapter 4 Pharmacologic Management of Neonatal Pain and Agitation
- Introduction
- Pathophysiology
- Clinical Features
- Evaluation
- Management
- Sucrose
- Premedication for Endotracheal Intubation
- Analgesia and Sedation for Other Major Procedures
- Continuous Analgesia and Sedation During Mechanical Ventilation
- Long-Term Outcomes
- References
- Chapter 5 Neonatal Transport
- Introduction
- Evaluation
- Consultation/Medical Director’s Role
- Safety
- Types of Transport and Other Considerations
- Decompensation
- Unique Challenges
- Education and Training
- Quality
- References
- Chapter 6 Radiation Safety in Premature and Critically-Ill Neonates
- Introduction
- Quantifying Radiation Exposure
- Image Acquisition to Optimize Dose and Adhere to the ALARA Principle
- Appendix 6.1
- References
- Section 2 Neonatal Resuscitation and Respiratory Care
- Chapter 7 Placental Transfusion in the Newborn
- Introduction
- Pathophysiology of Placental Transfusion
- Factors That Determine Placental Transfusion
- Methods of Cord Management After Birth
- Placental Transfusion
- How to Set Up a Quality Improvement Project on Implementation of Placental Transfusion Protocol
- Long-Term Outcomes
- Conclusions
- References
- Chapter 8 Neonatal Resuscitation
- Introduction
- The Transition From Fetal to Neonatal Life
- Pathophysiology of Perinatal Asphyxia
- Preparation
- Initial Assessment and Management
- Ventilation
- Support of Circulation
- Telemedicine
- Postresuscitation Care (Fig. 8.11)
- Withholding Aggressive Resuscitation
- References
- Chapter 9 Golden Hour and Thermoregulation
- The Golden Hour of the Preterm or High-Risk Neonate
- Delayed Cord Clamping
- Hypothermia
- Respiratory Support in the Golden Hour
- Fluid Management and Prevention of Hypoglycemia During the Golden Hour
- Prevention of Sepsis in the Golden Hour
- Optimizing Outcomes by Minimizing Interventions
- Future Directions for the Golden Hour
- FURTHER READING
- References
- Chapter 10 Oxygen During Postnatal Stabilization
- Introduction
- Oxygen in Utero and During Fetal-to-Neonatal Transition
- Evolving Arterial Oxygen Saturation in the First Minutes After Birth
- Initial FiO2 for Resuscitation in the Delivery Room
- Higher Initial FiO2: Critical Appraisal of Recent Evidence
- Final Considerations
- References
- Chapter 11 Respiratory Distress Syndrome
- Introduction
- Pathophysiology
- Diagnosis
- Management
- Types of Surfactants
- Indications for Surfactant Administration
- Timing of Surfactant Administration
- Techniques of Surfactant Administration: INSURE, INSURE, and INRecSURE
- Other Respiratory Approaches
- Nonrespiratory Strategies
- Complications of Treatment
- Summary
- References
- Chapter 12 Invasive and Noninvasive Ventilation Strategies
- Introduction
- Invasive Ventilation
- Conventional Mechanical Ventilation
- High-Frequency Ventilation
- Noninvasive Ventilation
- Nasal Intermittent Positive Pressure Ventilation
- High-Flow Nasal Canula
- Noninvasive High Frequency Ventilation
- Noninvasive Neurally Adjusted Ventilatory Assist
- Conclusions
- References
- Chapter 13 Pulmonary Hypertension of the Newborn
- Introduction
- Pathophysiology
- Clinical Conditions Presenting With PPHN
- Diagnostic Features
- Severity of Hypoxemia in PPHN
- Evidence-Based Management of PPHN
- Outcomes in Neonates With PPHN
- Conclusion
- References
- Chapter 14 Bronchopulmonary Dysplasia
- Introduction
- Management
- Long-Term Outcomes
- Conclusion
- References
- Chapter 15 Treatment of Apnea of Prematurity
- Introduction
- Pathophysiology
- Clinical Features and Evaluations
- More Evidence-Based (Direct) Management Approaches
- Less Evidence-Based (Indirect) Management Approaches
- Long-Term Outcomes
- References
- Section 3 Feeding
- Chapter 16 Human Milk
- Introduction
- Preparation of the Mother for Breastfeeding
- Information That We Have Found Useful to Encourage Mothers
- Appropriate Postures for the Mother and Good Latch-on for the Baby
- Milk Expression
- Milk Storage at Home
- Nutritional Components in Human Milk
- Nutritional Implications for the Premature Infant
- Immunologic Benefits
- Neonatal Morbidity
- Chronic Disorders
- Obesity and Related Cardiovascular Changes
- Cognitive Ability
- Benefits of Breastfeeding for Both the Mother and the Infant
- Global Impact
- Breastfeeding Goals
- Prelacteal Feeding
- Contraindications to Breastfeeding
- References
- Chapter 17 Storage and Use of Human Milk in Neonatal Intensive Care Units
- Introduction
- Definition
- Infrastructure of Human Milk Storage Units in NICUs
- Components and Process of a Human Milk Bank
- Documentation
- Staff Training
- Myths and Doubts About Pasteurized Donor Human Milk
- Summary
- References
- Chapter 18 Possible Benefits and Risks of Using Probiotics in Neonates
- Types of Probiotics
- Effect of Probiotics on Composite Outcomes Including NEC, LOS, and All-Cause Mortality
- Effect of Probiotics on the Risk of NEC
- Effect of Probiotics on the Risk of Late-Onset Sepsis and Other Conditions (Table 18.5)
- Mechanisms of Probiotic Effects
- Biologic Plausibility for Effects of Probiotics in Preterm Infants
- Efficacy of Individual Probiotic Strains
- Follow-Up Studies
- Alternative Options With Prebiotics and Synbiotics: Quality and Safety
- Probiotics During Other Diseases Seen in Neonates and Young Infants
- Conclusions
- References
- Section 4 Nutrition
- Chapter 19 Enteral Nutrition
- Introduction
- Preterm Infant Gastrointestinal Tract
- Human Milk Production and Delivery
- Early Enteral Nutrition
- Nutrition Requirements
- Preterm Infant Enteral Nutrition Management
- Long-Term Outcomes
- Conclusion
- References
- Chapter 20 Parenteral Nutrition in Neonates
- Indications for Parenteral Nutrition
- Nutrition Requirements in Parenteral Nutrition
- Macronutrients
- Electrolytes and Macrominerals
- Vitamins
- Trace Elements
- Compatibilities in Parenteral Nutrition
- Practical Calculations for Parenteral Nutrition Administration
- Complications of Parenteral Nutrition
- References
- Chapter 21 Nutrition in Short Bowel Syndrome
- Introduction
- Development of the Gastrointestinal System and Relevance to Short Bowel Syndrome
- Nutritional Challenges in Short Bowel Syndrome
- Intestinal Adaptation/Rehabilitation
- Goals of Intestinal Rehabilitation
- Nutritional Strategies in Short Bowel Syndrome
- Nonnutritional Strategies in the Management of Short Bowel Syndrome
- Cycling of Parenteral Nutrition
- Multidisciplinary Care
- Medications
- Dietary Fibers
- Enteral Fish Oil and Lipid Supplements
- Probiotics
- Predictors of Successful Outcomes
- Future Directions
- References
- Chapter 22 Neonatal Nutrition Assessment
- Introduction
- Classification of the Newborn
- Birth Weight Classification
- Anthropometric and Growth Assessment
- Body Mass Index
- Body Composition Modalities
- Evidence of Healthy Body Composition
- Biochemical Assessment
- Clinical Assessment
- Short Bowel Syndrome
- Bronchopulmonary Dysplasia
- Metabolic Bone Disease
- Nutrition-Focused Physical Exam
- Diagnosing Malnutrition in the Newborn
- Conclusion
- References
- Section 5 Endocrine Disorders
- Chapter 23 Neonatal Hypoglycemia
- Introduction
- Transitional Neonatal Hypoglycemia
- Screening Neonates at Risk for Hypoglycemia
- Neonates at Risk for Persistent Hypoglycemia and Indications for Evaluation
- Initial Treatment and Stabilization
- Evaluation of Persistent Hypoglycemia: The Diagnostic Fast
- Hyperinsulinism
- Conclusion
- References
- Chapter 24 Infants of Diabetic Mothers
- Epidemiology
- Pathophysiology
- Clinical Features
- Management
- Prognosis
- Conclusion
- References
- Chapter 25 Evidence-Based Neonatology: Neonatal Pituitary Hormone Deficiencies
- Introduction
- Genetics of Pituitary Disease
- Syndromes Associated With Pituitary Deficiency
- Growth Hormone Deficiency
- Central Hypothyroidism
- Gonadotropin Deficiency
- Adrenal Insufficiency
- Posterior Pituitary Hormone Deficiencies
- Conclusion
- References
- Chapter 26 Neonatal Thyroid Disease
- Introduction
- Pathophysiology
- Clinical Features
- Evaluation
- Management
- Conclusion
- References
- Chapter 27 Hypothalamic-Pituitary-Adrenal Axis in Neonates
- Introduction
- Embryology and Development of the HPA Axis
- Clinical Features of Adrenal Insufficiency
- Causes of Adrenal Insufficiency
- Evaluation
- Management
- References
- Chapter 28 Disorders of Neonatal Mineral Metabolism and Metabolic Bone Disease
- Background
- Fetal Bone Development
- Postnatal Mineral and Hormone Physiology
- Hypercalcemia
- PTH-Dependent Hypercalcemia
- Neonatal Severe Hyperparathyroidism and Familial Hypocalciuric Hypercalcemia
- PTH-Independent Hypercalcemia
- Hypocalcemia
- Early Neonatal Hypocalcemia
- Late Neonatal Hypocalcemia
- Hypocalcemia Management
- Biochemical Changes in Metabolic Bone Disease of Prematurity
- Risk Factors for Metabolic Bone Disease
- Biochemical Screening for MBD
- Role of Radiographic Screening for MBD
- Prevention of MBD
- Treatment of MBD
- Postdischarge Management
- Long-Term Outlook for Growth and Bone Mineralization
- Conclusion
- References
- Chapter 29 Disorders of Sex Development for Neonatologists
- Definition
- Epidemiology
- Embryology
- Endocrinology of the Fetal Testis
- Embryology of the Internal Ducts and External Genitalia
- Genetic Regulation of Sex Determination and Sex Development
- Nomenclature and Etiologies of Disorders of Sex Development
- Evaluation of the Infant With a Disorder of Sex Development
- Management of Disorders of Sex Development in the Neonatal Period
- Conclusion
- References
- Section 6 Infections
- Chapter 30 Early-Onset Sepsis
- Introduction
- Epidemiology
- Pathophysiology
- Risk Factors
- Microbiology
- Clinical Features
- Risk Assessment
- Diagnostic Evaluation
- Empiric Therapy
- References
- Chapter 31 Late-Onset Sepsis
- Introduction
- Epidemiology
- Pathophysiology
- Risk Factors
- Microbiology
- Clinical Features
- Evaluation
- Prevention
- Empiric Therapy
- Targeted Therapy
- Adjunctive Therapy
- Long-Term Outcomes
- References
- Chapter 32 Neonatal Herpes Simplex Virus Infections
- Background
- Virus
- Epidemiology
- Clinical Manifestation
- Diagnosis
- Management and Prevention
- Outcomes
- Vaccine
- Management of the Asymptomatic Exposed Infant
- Conclusions
- References
- Chapter 33 Postnatal Cytomegalovirus Infection Among Preterm Infants
- Introduction
- Viral Pathogenesis
- Disease Pathogenesis
- Perinatal Epidemiology
- Preterm pCMV
- Clinical Features of CMV Infection
- Diagnostic Testing
- Disease Management
- Infection Prevention
- References
- Chapter 34 Congenital Syphilis
- Introduction
- Epidemiology
- Pathogenesis
- Clinical Features
- Diagnosis
- Treatment
- Follow-Up
- Prevention
- References
- Chapter 35 Invasive Fungal Infections in theNICU: Candida, Aspergillosis, and Mucormycosis
- Introduction
- Candida
- Aspergillosis and Mucormycosis
- References
- Section 7 Cardiac Defects and Dysfunction
- Chapter 36 Congenital Heart Defects
- Overview
- Clinical Features
- Timing of Presentation
- History and Physical Examination
- Evaluation
- Screening for CHD
- Management
- Long-Term Considerations
- References
- Chapter 37 Cardiac Defects—Anatomy and Physiology
- Septal Defects
- Outflow Septation and Conal Defects
- Outflow Tract Pathology
- Arch Anomalies and Ductus Arteriosus
- Inflow Tract Anomalies
- Single Ventricles
- Abnormal Venous Connections
- References
- Chapter 38 Medical and Surgical Management of Critical Congenital Heart Disease
- Inadequate Pulmonary Blood Flow
- Inadequate Systemic Blood Flow
- Inadequate Intracardiac Shunts
- Ventricular Dysfunction
- Conclusion
- References
- Chapter 39 Neonatal Arrhythmia and Conduction Abnormalities
- Normal Atrioventricular Conduction
- Atrioventricular Block
- Intraventricular Conduction Delays
- Long QT Syndrome
- Tachyarrhythmias
- Summary
- References
- Chapter 40 Pulmonary Hypertension in Chronic Lung Disease
- Introduction
- Pathophysiology
- Evaluation
- Management
- General Care
- Conclusion
- References
- Chapter 41 Hemodynamic Assessment and Management of a Critically Ill Infant
- Introduction
- Fluid Dynamics: Understanding the Relationship Between Pressure and Flow
- Determinants of Cardiac Output
- Determinants of Systemic Vascular Resistance
- Pathophysiology of Shock
- Role of Near-Infrared Spectroscopy in Neonatal Shock
- References
- Section 8 Jaundice, Blood Disorders, and Transfusions
- Chapter 42 A Practical Guide to Evaluating and Treating Severe Neonatal Indirect Hyperbilirubinemia
- Overview
- Determining Causes of Severe Hyperbilirubinemia
- Hemolytic Causes of Hyperbilirubinemia
- Nonhemolytic Causes of Indirect Hyperbilirubinemia
- Treatment of Severe Hyperbilirubinemia
- References
- Chapter 43 Neonatal Anemia
- Introduction
- Fetal and Neonatal Erythropoiesis
- Identifying Anemia Using Reference Intervals
- When the Cause of Neonatal Anemia Is Not Obvious
- Hyporegenerative Anemia
- Hemorrhagic Anemia
- Hemolytic Anemia
- Immune-Mediated Hemolytic Disease of the Fetus/Neonate
- Hemolytic Disease of the Fetus/Neonate Associated With Infectious Diseases
- References
- Chapter 44 Evidence-Based Neonatal Transfusion Guidelines
- Introduction and Pathophysiology
- Clinical Studies
- Evaluation and Management
- References
- Chapter 45 Neonatal Thrombocytopenia
- Platelet Counts in Newborn Infants
- Fetal and Neonatal Platelet Production
- Evaluation of Neonatal Thrombocytopenia
- Management
- Altered Platelet Function
- References
- Section 9 Neurological Disorders
- Chapter 46 Management of Hypoxic-Ischemic Encephalopathy Using Therapeutic Hypothermia
- Introduction
- The Pathogenesis of Brain Cell Death
- The Determinants of Neuroprotection With Therapeutic Hypothermia
- Clinical Evidence for Therapeutic Hypothermia
- Is It Possible to Further Optimize Therapeutic Hypothermia?
- Conclusion
- Acknowledgments
- References
- Chapter 47 Management of Hypoxic-Ischemic Encephalopathy Using Measures Other Than Therapeutic Hypothermia
- Definition, Diagnosis, and Differential
- Pathophysiology
- Stratification of Patients by Risk
- Transport
- Supportive Management
- Neuroprotective Strategies
- Future Adjuvant Therapies
- Postacute Care Follow-Up
- References
- Chapter 48 Management of Encephalopathy of Prematurity
- Introduction
- Pathophysiology
- Clinical Features and Evaluation
- Management
- Outcome
- References
- Chapter 49 Neonatal Seizures
- Introduction
- Pathophysiology
- Differential Diagnosis
- Evaluation
- Management
- Long-Term Outcomes
- References
- Chapter 50 Stroke in Neonates
- Introduction
- Epidemiology
- Pathogenesis
- Presentation
- Evaluation and Management
- Outcomes
- References
- Chapter 51 Using Biomarkers for Management of Perinatal Brain Injury
- REFERENCES
- Chapter 52 Intraventricular Hemorrhage and Posthemorrhage Hydrocephalus
- Introduction
- Incidence and Timing of GM-IVH
- Neuropathology
- Pathogenesis of Periventricular Hemorrhagic Infarction
- Posthemorrhagic Ventricular Dilatation and Posthemorrhagic Hydrocephalus
- Clinical Features
- Diagnosis
- Posthemorrhagic Hydrocephalus (PHH)
- Conclusions
- References
- Chapter 53 Management of Neurotrauma
- Introduction
- Epidemiology
- Neonatal Neurotrauma Anatomical Classification
- Head Injuries
- Intracranial Hematomas
- Spine and Spinal Cord Injuries
- REFERENCES
- Chapter 54 Management of Myelomeningocele and Related Disorders of the Newborn
- Introduction
- Pathophysiology
- Clinical Features
- Diagnosis
- Management
- Long-Term Outcomes
- REFERENCES
- Chapter 55 Treating Neonatal Abstinence Syndrome in the Newborn
- Introduction
- Opioids
- Stimulants
- Kratom Tea
- Depressants
- Selective Serotonin Reuptake Inhibitors
- Conclusions
- REFERENCES
- Section 10 Immunology
- Chapter 56 Neonatal Immunity
- Leukocyte Populations in the Fetus and the Neonate
- Innate Immune System
- Adaptive Immune System
- REFERENCES
- Chapter 57 Immunodeficiency Syndromes Seen During the Neonatal Period
- Introduction
- Innate Immune System
- Adaptive Immune System
- Immune Deficiency Affecting Multiple Cell Lineages
- REFERENCES
- Section 11 Kidney
- Chapter 58 Neonatal Acute Kidney Injury
- Introduction
- Developmental Considerations
- Definitions of Neonatal AKI
- Epidemiology and Risk Factors for Neonatal AKI
- Evaluation: Prevention and Mitigation of Neonatal AKI
- Novel Approaches to Determining AKI Risk and Kidney Function
- Management of Neonatal AKI
- Long-Term Outcomes After Neonatal AKI
- Summary
- REFERENCES
- Chapter 59 Renal Replacement Therapy
- Renal Replacement Therapy in Infants With Acute and Chronic Renal Failure
- Peritoneal Dialysis
- Hemodialysis
- CRRT
- RRT is Changing the Prognosis of Acute AKI in Neonates
- The Impact of RRT on CAKUTs and Inherited Cystic Kidney Diseases
- References
- Chapter 60 Neonatal Hypertension
- Introduction
- Proper Blood Pressure Measurement
- Physiology of Blood Pressure in Neonates
- Incidence of Hypertension
- Etiology of Hypertension
- Clinical Presentation
- Evaluation of Hypertension
- Management of Hypertension
- Long-Term Outcomes
- References
- Chapter 61 Altered Development of the Kidneys and the Urinary Tract
- Altered Development of the Kidneys and the Urinary Tract
- Congenital Abnormalities of the Kidney and the Urinary Tract
- Evaluation
- Functional Disorders
- Low Nephron Counts and Glomerular Volume
- Inherited Renal Cystic Disorders
- Medical Management of Renal Anomalies
- References
- Section 12 Eye Disorders
- Chapter 62 Retinopathy of Prematurity
- Introduction
- Pathophysiology
- Role of Growth Hormone and IGF-1 in ROP
- Other Factors With Possible Roles in Pathogenesis of ROP
- Clinical Features of ROP
- Management
- Screening for ROP
- Timing of Screening
- Treatment of ROP
- Surgery
- Sequelae of Treated ROP
- Future Direction
- REFERENCES
- Chapter 63 Developmental Anomalies of the Globe and Ocular Adnexa in Neonates
- Introduction to the Eye and Adnexal Structures
- Abnormal Eye Structure
- Abnormal Eyelid Structure/Function
- REFERENCES
- Chapter 64 Developmental Anomalies of the Cornea and Iris in Neonates
- Cornea: Abnormal Appearance or Size
- Iris and Pupil: Congenital Abnormalities
- REFERENCES
- Chapter 65 Cataract and Glaucoma
- Congenital Cataract
- Glaucoma
- References
- Section 13 ENT and Auditory Conditions
- Chapter 66 Neonatal Tracheostomy
- Introduction
- Pathophysiology
- Clinical Features and Indications
- Management
- Summary
- REFERENCES
- Chapter 67 Stridor and Laryngotracheal Airway Obstruction in Newborns
- Introduction
- Pathophysiology and Clinical Features
- Evaluation (Clinical, Laboratory, and/or Imaging)
- Management and Long-Term Outcomes
- REFERENCES
- Chapter 68 Pierre-Robin Sequence/Cleft Palate-Related Airway Obstruction Seen in Neonates
- Introduction
- Pathophysiology
- Clinical Features
- Evaluation
- Management
- Feeding Management
- Long-Term Outcomes
- Summary
- References
- Chapter 69 Congenital Hearing Loss Seen in Neonates
- Introduction
- Etiology and Pathophysiology of Sensorineural Hearing Loss
- Newborn Hearing Screen (NHS)
- Definitive Diagnosis
- Management of Newborns With SNHL
- Conclusion
- References
- Chapter 70 Nasal Obstruction in Newborn Infants
- Introduction
- General Clinical Features and Recommended Evaluations for Neonatal Nasal Obstruction
- Considerations for Initial Management of Neonatal Nasal Obstruction
- Epidemiology, Pathophysiology, Clinical Features, Evaluation, and Management of More Common Causes of Neonatal Nasal Obstruction
- Conclusions
- References
- Section 14 Orthopedic Conditions
- Chapter 71 Upper Extremity Conditionsin the Neonate
- Introduction
- Embryology
- Pathophysiology
- Clinical Features, Evaluation, Management, Long-Term Outcomes, and Conditions
- Radial, Ulnar, and Central Longitudinal Deficiencies
- References
- Chapter 72 Newborn Spine Deformities
- Introduction
- Pathophysiology
- Clinical Features
- Evaluation
- Management
- Growth Preservation Strategies
- References
- Chapter 73 Hip and Lower Extremity Deformities
- Developmental Dysplasia of the Hip
- Talipes Equinovarus
- Calcaneovalgus
- Congenital Hyperextension of the Knee and Congenital Knee Dislocation
- Fibular Hemimelia
- Congenital Femoral Deficiency
- Tibial Hemimelia
- Tibial Bowing
- Congenital Vertical Talus
- References
- Chapter 74 Fractures and Musculoskeletal Infections in the Neonate
- Clavicular Fractures
- Congenital Pseudarthrosis of the Clavicle
- Humerus Fractures
- Femoral Fractures
- Congenital Pseudarthrosis of the Tibia
- Bone and Joint Infections
- Conclusion
- REFERENCES
- Section 15 Inborn Errors of Metabolism and Newborn Screening
- Chapter 75 Most Frequently Encountered Inborn Errors of Metabolism
- Diagnosis of Conditions With Early Neonatal Onset or Those Not Included in Screening Programs
- Clinical Approach to IEMs Detected in NBS Programs
- Congenital Adrenal Hyperplasia
- REFERENCES
- Chapter 76 Screening Programs for EarlyDetection of Inborn Errors ofMetabolism in Neonates
- Introduction
- Background
- Selection of Disorders
- Description of the Process
- Abnormal Newborn Screen Results
- False-Positive/False-Negative Results
- References
- Section 16 Genetic Conditions (Including Microarrays, Exome Sequencing)
- Chapter 77 An Overview of GeneticTesting
- Diagnostic Techniques in Clinical Genetics
- Chromosomal Disorders and Karyotyping
- Mosaicism
- Aneuploidy
- Fluorescence In Situ Hybridization
- Chromosomal Microarray
- Sanger Sequencing
- Next-generation Sequencing Technology
- Gene Panel Testing
- Exome Sequencing
- Genome Sequencing
- References
- Chapter 78 Genetics of Common Birth Defects in Newborns
- Summary
- Introduction
- Congenital Heart Disease
- Chromosomal Aneuploidies
- Copy Number Variations
- Single-Gene Defects
- Heterotaxy and Ciliopathies
- GDF1 and Founder Ashkenazi Mutation
- Monogenic Causes of Isolated CHD
- Common Variants and CHD
- Recommendations for Clinical Genetic Testing
- Conclusion
- References
- Chapter 79 Common Monogenetic Conditions in Newborns
- Autosomal Recessive Polycystic Kidney Disease
- Achondroplasia
- Rasopathies
- Tuberous Sclerosis Complex
- Spinal Muscular Atrophy
- Congenital Myotonic Dystrophy Type 1
- References
- Chapter 80 Common Chromosomal Conditions in Newborns
- Introduction
- Turner Syndrome (Monosomy X) and Triple X Syndrome (Trisomy X)
- Klinefelter Syndrome
- Jacobs Syndrome
- Trisomy 13 and Trisomy 18
- Trisomy 21
- Microdeletion/Microduplication Syndromes
- References
- Section 17 Neonatal Surgical Conditions
- Chapter 81 Necrotizing Enterocolitis
- Introduction
- Risk Factors
- The Five Clinical Presentations of NEC in Infants
- Differential Diagnoses
- Diagnosis
- Management
- Medical Management
- Operative Management
- Complications From NEC
- Outcomes and Prevention in Patients Undergoing Surgery for NEC
- Summary
- References
- Chapter 82 Extracorporeal Membrane Oxygenation in Neonates
- Introduction
- ECMO—Respiratory
- Congenital Diaphragmatic Hernia
- Persistent Pulmonary Hypertension of the Newborn
- Meconium Aspiration Syndrome
- ECMO—Cardiac
- ECMO—ECPR
- Neurologic Outcomes
- Controversies and Ethical Considerations
- References
- Chapter 83 Intestinal Surgery in the Newborn—Atresias, Volvulus, and Everything Else
- Introduction
- Intestinal Atresia
- Malrotation and Volvulus
- Meconium Ileus
- Duplication Cysts
- Abdominal Wall Defects
- References
- Chapter 84 Pulmonary Surgery inthe Newborn
- Upper Respiratory Airway Disease
- Laryngomalacia
- Laryngeal Stenosis
- Laryngeal Webs and Laryngeal Atresia
- Tracheomalacia
- Tracheal Stenosis
- Vascular Compression of the Airway
- Congenital Lung Lesions
- Congenital Pulmonary Airway Malformation
- Bronchopulmonary Sequestration
- Congenital Lobar Emphysema
- Bronchogenic Cysts
- Congenital Diaphragmatic Hernia
- Diaphragmatic Eventration
- References
- Chapter 85 Congenital Anorectal Malformations and Hirschsprung Disease in the Neonate
- Introduction
- Anorectal Malformations
- Hirschprung Disease
- Conclusions
- References
- Chapter 86 Esophageal Surgery in Neonates: Esophageal Atresia, Gastroesophageal Reflux, and Other Congenital Anomalies
- Introduction
- EA and TEF
- Surgery for Other Esophageal Pathology in Neonates
- Summary
- References
- Section 18 Current State of Neonatal Palliative Care
- Chapter 87 Caring for Families Who Have Previously Endured Multiple Perinatal Losses
- Reproductive Story
- Ontological Death
- Complexity of the Loss of Young Infants
- Impact of Previous Losses During Pregnancy or Early Infancy
- Grief
- Role of the Healthcare Professional
- References
- Chapter 88 Current State of Perinatal Palliative Care: Clinical Practice, Training, and Research
- Introduction
- The Clinical Practice of Perinatal Palliative Care
- Progress in Perinatal Palliative Care Research
- References
- Chapter 89 Serious Communication in the Neonatal Intensive Care Unit: Evidence for Strategies and Training
- Communication in the Neonatal Intensive Care Unit
- Conclusion
- References
- Chapter 90 Pain and Symptom Management in Newborns Receiving Palliative and End-of-Life Care
- Introduction
- Pain
- Opioids
- Additional Medications for Pain Control
- Nonpain Symptoms
- Nonpharmacologic Interventions
- Symptom Management in the Actively Dying Neonate
- Conclusion
- References
- Chapter 91 Palliative Care Family Support in Neonatology
- Prenatal Phase
- Acute Neonatal Intensive Care Phase
- Chronic Critical Illness Phase
- Bereavement Phase
- References
- Section 19 Follow-Up
- Chapter 92 Early Diagnosis and Intervention in Neonatal Intensive Care Units
- Days 1 to 3 of Life
- Days 3 to 7 of Life in the NICU
- Prior to Discharge From the NICU
- References
- Chapter 93 Early Diagnosis and Intervention—On Neonatal Follow-Up
- Ensuring Continuity and Compliance After Discharge From the NICU
- Role of Developmental Follow-Up Services
- Developmental Surveillance—After Discharge From the NICU
- Beyond Early Infancy
- Referral: Timely Specific Interventions and Interprofessional Integration
- Audits and Process of Improvement
- References
- Chapter 94 Early Detection of Cerebral Palsy
- Introduction
- Pathophysiology
- Clinical Features and Evaluation of Cerebral Palsy
- Long-Term Outcomes
- Management
- Conclusion
- References
- Chapter 95 Use of Neuroimaging to Predict Adverse Developmental Outcomes in High-Risk Infants
- Introduction
- Imaging of the Neonatal Central Nervous System
- Types of Brain Injury in the Neonatal Period
- Comparison of TE-cUS and TE-MRI for Predicting Neurodevelopmental Outcomes
- Advanced MRI Techniques
- Conclusions
- References
- Chapter 96 Neurodevelopmental Impairment in Specific Neonatal Disorders
- Introduction
- Pathophysiology
- Hypoxic-Ischemic Encephalopathy
- Intraventricular Hemorrhage
- Bronchopulmonary Dysplasia
- Necrotizing Enterocolitis
- Neonatal Sepsis
- References
- Section 20 Designing Clinical Trials in Neonatology
- Chapter 97 Quality Improvement in Neonatal Care
- General Considerations
- Methodology
- Quality Networks
- Professional Expectations for QI
- Research Versus Quality Improvement
- References
- Chapter 98 Neonatal Randomized Controlled Trials
- Introduction
- Clinical Trial Designs
- Informed Consent
- Recruitment and Retention of Trial Participants
- Long-Term Follow-Up in Neonatal RCTs
- Stakeholder Engagement in Neonatal RCT Design
- Summary Conclusions
- Acknowledgment
- References
- Chapter 99 Designing Clinical Trials in Neonatology—International Trials
- Introduction
- Building a Shared Vision of the Purpose of the Study
- How to Encourage Local Buy-in and Participation
- Regulatory and Ethical Considerations
- Guidelines for the Conduct of International Clinical Trials
- Potential Sources of Funding
- Conclusion
- References
- Section 21 Healthcare Leadership
- Chapter 100 Organization of Neonatal Intensive Care
- Neonatal Intensive Care Units
- Leadership Structure
- Medical Staff
- Nursing and Ancillary Staff
- Data, Quality, and Safety Staff
- NICU Provider Workforce Shortages and Strategies
- Transition to Home
- References
- Chapter 101 Leadership and Organizational Culture in Healthcare
- Leadership
- Leadership Types
- Significance of Specific Leadership Styles
- Organizational Culture
- Further Reading
- References
- Section 22 Neonatal Dermatology
- Chapter 102 Skin Disorders in Newborn Infants
- Immaturity of the Skin in Newborn Infants
- Transient Cutaneous Changes Seen in Newborn Infants
- Minor Congenital Anomalies That Predominantly Involve the Skin
- Complications Associated With Neonatal Intensive Care
- Congenital Disorders of Skin Structure Seen in Newborn Infants
- Vascular Malformations
- Inflammatory Disorders of the Neonatal Skin
- Scaling Disorders
- Cutaneous Infections
- Cutaneous Neoplasms
- References
- Index
- No. of pages: 928
- Language: English
- Edition: 1
- Published: September 8, 2023
- Imprint: Elsevier
- Hardback ISBN: 9780323694155
- eBook ISBN: 9780323694179
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