دانلود کتاب Fanaroff and Martin's Neonatal-Perinatal Medicine, 2-Volume Set: Diseases of the Fetus and Infant

فهرست مطالب :

cover
front matter
Fanaroff and Martin\'s Neonatal-Perinatal Medicine, 2-Volume Set
copyright
Copyright Page
dedication
Dedication
content
contributors
Contributors
preface
Preface
1
1 Growth of Neonatal Perinatal Medicine—A Historical Perspective
Abstract
Keywords
Perinatal Pioneers
The High-Risk Fetus and Perinatal Obstetrics
Midwives and Perinatal Care
Neonatal Resuscitation: Tales of Heroism and Desperation
Apgar and the Language of Asphyxia
Foundling Asylums and Infant Care
Saving Infants to Man the Army
An Ingenious Contrivance, the Couveuse, and Premature Baby Stations
Incubators, Baby Shows, and Origins of Neonatal Intensive Care Units
Supportive Care and Oxygen Therapy
Ventilatory Care: “Extended Resuscitation”
Supportive Care: Intravenous Fluid and Blood Transfusions
Tools and Supplies for Neonatal Intensive Care Units
Pediatric Surgery: Not for Rabbits Anymore
Global Neonatal Care
Medical Errors and “Patient Safety” as a New Discipline
Controlled Clinical Trials, Evidence-Based Medicine, and Research Networks
Future of Neonatal Research, Education, and Databases in the Internet Era
Some Famous High-Risk Infants
Acknowledgment
Key Points
References
2
2 Epidemiology for Neonatologists
Abstract
Keywords
Introduction
Common Epidemiologic Concepts
Health Statistics and Data Sources
Birth Data
Fetal Deaths
Infant Deaths
Pregnancy-Related Deaths
Maternal Morbidity
Neonatal Morbidity
Prematurity and Low Birth Weight
Key Points
References
3
3 Medical Ethics in Neonatal Care
Abstract
Keywords
Principles in Medical Ethics
Autonomy
Beneficence
Nonmaleficence
Justice
Key Terms and Concepts
Communication With Parents
Teams and Communication
Family-Centered Neonatal Intensive Care
Consensual Decision Making
Team Consensus in Ethical Issues
Clinical Applications in Specific Moral Problems
Refusal of Treatment During Pregnancy
Prenatal Consultation at the Limits of Viability
Withholding and Withdrawing Life-Sustaining Medical Treatment in the Neonatal Intensive Care Unit
Collaborative, Procedural Framework for End-of-Life Decision Making
Specific Issues in End-of-Life Care
Brain Death, Donation After Cardiac Death, and Organ Donation
Brain Death
Donation After Cardiac Death
Use of Analgesic Agents at the Time of Withdrawing Life-Sustaining Medical Treatment
Palliative Care in the Neonatal Intensive Care Unit
Conflict Resolution When Consensus Cannot Be Reached
Ethics of Research in the Neonatal Intensive Care Unit
Ethical Responsibilities of Neonatal Physicians
Acknowledgment
Key Points
References
4
4 Legal Issues in Neonatal-Perinatal Medicine
Abstract
Keywords
Disclaimer
General Legal Principles
Legislative Law and Case Law
State Law and Federal Law
General Structure of the Federal and State Court Systems
Supervision of Others
Theories of Liability for Attending Physicians
Residents and Fellows
Physician Assistants
Advanced Practice Neonatal Nurses
Malpractice
Duty
Supervising Others
Telephone Advice
Telemedicine
Prenatal Consultation
Breach
Standard of Care
Role of the Expert Witness
Res Ipsa Loquitur
Causation
Damages
Burden of Proof
Protected (Nondiscoverable) Proceedings
Other Tort Actions
Wrongful Birth
Wrongful Life
Wrongful Death
Strategies for Avoiding Tort Litigation
Trends in Malpractice Legislation
Conclusions
Live Birth
Born-Alive Infants Protection Act
Handicapped Newborns
Baby Doe
Baby Jane Doe
Baby K
Sun Hudson
Conclusions
Providing Care Against Parents’ Wishes
Miller Case
Messenger Case
Montalvo Case
Conclusions
Summary
Key Points
References
5
5 Evaluating and Improving the Quality and Safety of Neonatal Intensive Care
Abstract
Keywords
The Case for Improvement
Brief History of Industrial Quality Improvement
Definition and Conceptual Frameworks for Quality
Definition
Conceptual Framework for Quality
Donabedian: Structure, Process, Outcomes
Pawson and Tilley: Realistic Evaluation
Batalden: Five Knowledge Systems
Complexity Theory
Translation of Frameworks into Action
Model for Improvement
Integrated Quality Management
Lean
Data and Methods for Quality Improvement
Data Elements for Assessment
Structure and Institutional Context
Processes
Outcomes
Balancing Measures
Assessing the Total Impact of a Quality Improvement Initiative
Risk Adjustment/Fair Comparisons
Data Sources
Administrative Data
Clinical Data
Qualitative Data
Quality Measurement and Improvement
Data for Selection
National Quality Measures
Data for Improvement
Global Assessments of Perinatal Quality: The Value Compass
Global Assessments of Perinatal Quality: The Baby-MONITOR
Quality and Safety Applied
Local Quality Improvement Applied: An Example
Sustainability
Quality Improvement Research
Quality and Safety in the International Context
Conclusion
Acknowledgments
Key Points
References
6
6 Simulation and Debriefing in Neonatal-Perinatal Medicine
Abstract
Keywords
Introduction
Simulation-Based Training in High-Risk Industries
Simulation-Based Training in Health Care
Simulation-Based Training in Neonatal-Perinatal Medicine
Debriefing Simulated Events
Debriefing Actual Clinical Events
Simulation-Based Assessment
Simulation-Based Research
Simulation as the Basis of Clinical Care
The Future of Simulation in Neonatal-Perinatal Medicine
Key Points
References
7
7 Practicing Evidence-Based Neonatal-Perinatal Medicine
Abstract
Keywords
Asking a Focused Clinical Question
Finding Evidence
Sources of Evidence
Efficient Strategies for Searching for Evidence
Primary Reports
Reviews
Cochrane Systematic Reviews
Critically Appraising Evidence for Its Validity
Extracting the Data and Expressing the Effect of Treatment
Applying the Results to Patient Care
Promoting Evidence-Based Clinical Practice
Acknowledgments
Key Points
References
8
8 Perinatal and Neonatal Care in Developing Countries
Abstract
Keywords
Global Initiatives to Reduce Infant Mortality Rate and Neonatal Mortality Rate
Historical Perspective
The Millennium Development Goals (MDGs)
The Sustainable Development Goals
Tracking the Global Progress of the Sustainable Development Goals
Global Burden of Maternal and Neonatal Deaths
Maternal Mortality
Neonatal and Infant Mortality
Causes of Global Maternal and Neonatal Mortality
Socioeconomic and Cultural Factors
Influence of Political Instability, War, and Conflict
Medical Causes of Neonatal Mortality Rate
Prematurity
Birth Asphyxia
Hypothermia
Infections
Burden of Neonatal Sepsis
Diagnosis of Neonatal Sepsis
Evidence-Based Interventions to Reduce Maternal Mortality Rates, Neonatal Mortality Rates, and Infant Mortality Rates
The Impact of Progress
The Burden of the High Cost of Advanced Neonatal Care
Long-Term Neurodevelopmental Outcome
Ethical Dilemmas
Strategies to Improve Global Neonatal and Perinatal Outcome
Summary
Acknowledgments
Key Points
References
9
9 Social and Economic Contributors to Neonatal Outcome in the United States
Abstract
Keywords
Epidemiology of Health Disparities in Neonatal and Perinatal Medicine
Infant Mortality
Maternal Mortality
Determinants of Prematurity and Adverse Outcomes
Social Determinants of Health
Interventions to Reduce Neonatal Health Outcome Disparities
Key Points
References
10
10 Genetic Aspects of Perinatal Disease and Prenatal Diagnosis
Abstract
Keywords
Principles of Inheritance
Chromosomal Disorders
Maternal Age Considerations
Abnormalities of Chromosome Number
Triploidy and Tetraploidy
Aneuploidy
Abnormalities of Chromosome Structure
Single-Gene Disorders
Autosomal Dominant Disorders
Advanced Paternal Age
Autosomal Recessive Disorders
Sex-Linked Disorders
Non-Mendelian Patterns of Inheritance
Mitochondrial Inheritance
Epigenetics and Uniparental Disomy
Trinucleotide Repeat Expansion
Multifactorial Inheritance
Teratogens
Diagnostic Imaging
Airline Flights
Congenital Anomalies and Ultrasonography
Screening Modalities
Screening for Aneuploidies
First-Trimester Screening
Second-Trimester Screening
Cell Free DNA Screening
Future Directions for Non-Invasive Screening and Diagnosis
Microdeletions
The Role of First-Trimester Ultrasound
Non-Invasive Prenatal Diagnosis (NIPD)
Screening for Multifactorial Disorders
Serum Alpha-Fetoprotein
Screening for Mendelian Disorders
Screening for Hemoglobinopathies
Carrier Screening for Cystic Fibrosis
Jewish Carrier Screening
Carrier Screening for Spinal Muscular Atrophy
Diagnostic Modalities
Chorionic Villus Sampling (CVS)
Amniocentesis
Cordocentesis
Technical Advances in Molecular Cytogenetics
Microarray Technology
Future Directions for Prenatal Diagnostic Testing
Assisted Reproductive Technologies (ART)
Genetic Evaluation and Counseling
Key Points
References
11
11 Perinatal Ultrasound
Abstract
Keywords
Ultrasound Equipment
Fetal Imaging Techniques
Bioeffects and Safety
Who Should Perform Fetal Ultrasound Examination?
Ethical Considerations
Classification of Fetal Sonographic Examinations
A. First-Trimester Examination
B. Standard Second- or Third-Trimester Examination
C. Limited Examination
D. Specialized Examinations
Applications of Ultrasound Studies
Genetic Screening
Assisted Reproduction
Multiple Gestations
Pregnancy Evaluation
Fetal Growth
Placental Abnormalities
Placental Location
Amniotic Fluid Volume
Cervical Length and Pelvic Structures
Second-Trimester Ultrasound Study of the Fetus
Doppler Ultrasound
Doppler Studies of the Growth-Restricted Fetus
Ultrasound-Guided Procedures
Fetal Well-Being Assessment
Fetal Anomalies
Central Nervous System
Fetal Ventriculomegaly
Meningomyelocele and (Type II) Chiari Malformation
The Skull and Brain in Spina Bifida
Anencephaly
Encephalocele
Holoprosencephaly
Dandy-Walker Malformation
Choroid Plexus Cyst
Spine
Head and Neck
Heart
Gastrointestinal Tract
Normal Bowel Appearance
Esophageal Atresia and Tracheoesophageal Fistula
Small Bowel Obstruction
Anterior Abdominal Wall Defects
Diaphragmatic Hernia and Thoracic Lesions
Gallbladder and Bile Ducts
Genitourinary Tract
Musculoskeletal System
Two-Vessel Umbilical Cord
Summary
Key Points
References
12
12 Estimation of Fetal Well-Being
Abstract
Keywords
Introduction
Antepartum Fetal Surveillance
Indications for Surveillance
Physiologic Basis for Antenatal Surveillance
Patient Assessment of Fetal Movement
Non-Stress Test
Contraction Stress Test
Biophysical Profile
Amniotic Fluid Volume Assessment
Doppler Flow Velocimetry
Interpretation of Test Results
Evaluation of the Intrapartum Fetus
Intrapartum Oxygenation and Neurologic Morbidity
Continuous Versus Intermittent Fetal Heart Rate Monitoring
Interpretation of Continuous FHR Recordings
Baseline Fetal Heart Rate
Fetal Heart Rate Variability
Accelerations
Decelerations
Interpretative Systems for Classification of Fetal Heart Rate Patterns
Category I
Category II
Category III
Management of Non–Category I FHR Patterns During Labor
Key Points
References
13
13 Surgical Treatment of the Fetus
Abstract
Keywords
Summary
Fetal Access
Percutaneous Interventions
Fetoscopic Surgery
Open Hysterotomy
Exit Procedure
Anesthetic Considerations
Anomalies Amenable to Fetal Surgery
Congenital Diaphragmatic Hernia
Congenital Pulmonary Airway Malformations
Fetal Hydrothorax
Amniotic Bands
Neoplastic Mass Lesions
Sacrococcygeal Teratoma
Fetal Neck Mass
Myelomeningocele
Urinary Tract Abnormalities
Hydronephrosis
Lower Urinary Tract Obstruction
Abnormalities of Twin Gestations
Twin–Twin Transfusion Syndrome
Selective Fetal Reduction
Congenital Heart Disease
Conclusion
Key Points
References
14
14 Adverse Exposures to the Fetus and Neonate
Abstract
Keywords
Exposures Not Concurrent With Pregnancy
Preconceptual Effects
The Epigenome
Maternal Exposures
Paternal Exposures
Secondary Fetal Exposure: Maternal Body Burden
Polychlorinated Biphenyls
Lead
Maternal Exposures Concurrent With Pregnancy
Occupation and Paraoccupation
Air Pollution
Drinking Water
Diet
Pathways of Fetal Exposure
Placenta-Dependent Pathways
Placenta-Independent Pathways
Radiation
Heat
Noise
Fetal Pharmacokinetics
Absorption and Distribution
Metabolism
Specific Exposures
Cigarette Smoke
Sources of Exposure
Toxic Effects
Prevention Strategies
Ethanol
Sources of Exposure
Toxic Effects
Prevention Strategies
Pesticides
Sources of Exposure
Toxic Effects
Prevention Strategies
Bisphenol A, S, and F
Sources of Exposure
Toxic Effects
Prevention Strategies
Phthalates
Sources of Exposure
Toxic Effects
Prevention Strategies
Organic Solvents
Sources of Exposure
Toxic Effects
Prevention Strategies
Conclusions
Key Points
References
15
15 Intrauterine Growth Restriction
Abstract
Keywords
Summary
Definitions and Terminology
The Health Burden of IUGR
Classification of IUGR
Etiology of IUGR
Fetal Etiologies
Maternal Etiologies
Environmental Etiologies
Placental Etiologies
Pathophysiology
Antenatal Screening and Prenatal Management
Prevention
Postnatal Diagnosis of IUGR
Postnatal Management
Hypoglycemia
Hypothermia
Respiratory Complications
Necrotizing Enterocolitis
Seizures, Intraventricular Hemorrhage
Other
Long-Term Consequences of IUGR
Conclusions
Key Points
References
16
16 Developmental Origins of Adult Health and Disease
Abstract
Keywords
Fetal Origins of Adult Disease Concept
Influences on the Early Embryo
Postnatal Growth and Nutrition
Mismatch Concept
Fetal Origins of Vascular Structural Abnormalities and Dysfunction in Adult Cardiometabolic Disease
Placental Abnormalities and Association With Adult Disease
Gestational Diabetes and Long-Term Metabolic Effects on Offspring
Cancer
Psychosocial Aspects
Toxins, Endocrine Disrupters, and Micronutrient Metabolism (See Also Chapter 14)
Epigenetics
Translation to Neonatology
Key Points
References
17
17 Hypertensive Disorders of Pregnancy
Abstract
Keywords
Classification of Hypertensive Disorders of Pregnancy
Gestational Hypertension
Preeclampsia
Eclampsia
Chronic Hypertension
Superimposed Preeclampsia
HELLP Syndrome
Epidemiology of Preeclampsia
Maternal Effects
Short Term
Recurrence in Subsequent Pregnancies
Long-Term Cardiovascular Risks
Fetal and Neonatal Effects
Risk Factors
Pregnancy-Specific Characteristics
Maternal Characteristics
Pathophysiology
Angiogenic Factors
Immunologic/Inflammatory Factors
Renin Angiotensin System
Genetics
Endothelial Dysfunction
Pathophysiology by Organ System
Cardiovascular
Renal
Brain
Hepatic
Placenta
Clinical Presentation of Preeclampsia
Initial Evaluation
Principles of Management
Administration of Corticosteroids
Seizure Prophylaxis
Antihypertensive Therapy
Ongoing Maternal and Fetal Surveillance
Timing of Delivery
Mode of Delivery
Other Hypertensive Disorders of Pregnancy
Gestational Hypertension
HELLP Syndrome
Chronic Hypertension
Superimposed Preeclampsia
Prediction
Prevention
Key Points
References
18
18 Pregnancy Complicated by Diabetes Mellitus
Abstract
Keywords
Gestational Diabetes Mellitus
Screening and Diagnosis
Antenatal Management
Treatment
Fetal Surveillance
Screening for Congenital Anomalies
Monitoring Fetal Well-Being
Assessment of Fetal Weight
Timing and Mode of Delivery
Intrapartum Management
Postpartum Maternal Management
Pregestational Diabetes Mellitus
Implications for the Neonate
Breastfeeding in Women With Gestational Diabetes Mellitus
Key Points
References
19
19 Obstetric Management of Prematurity
Abstract
Keywords
Prematurity
Pathogenesis
Risk Factors
Demographics
Obstetric History
Cervical and Uterine Factors
Multifetal Gestations
Bleeding
Infection
Genetic Factors
Other Risk Factors
Predicting Preterm Labor
Biochemical Predictors
Ultrasound Predictors
Prevention
Treatment
Bed Rest
Hydration or Sedation
Progesterone
Cerclage
Pessaries
Tocolytics
β-Sympathomimetic Agents
Ritodrine
Terbutaline
Magnesium Sulfate
Prostaglandin Synthetase Inhibitors
Indomethacin
Sulindac
Cyclooxygenase-2 Inhibitors
Calcium Channel Blockers
Oxytocin Antagonists
Nitric Oxide Donors
Antibiotics
Corticosteroids
Additional Interventions
Summary
Acknowledgments
Key Points
References
20
20 Fetal Effects of Autoimmune Disease
Abstract
Keywords
Placental Transfer: General Remarks
Fetal Thrombocytopenia
Immune Thrombocytopenic Purpura
Neonatal Alloimmune Thrombocytopenia
Management of the Neonate
Management of a Subsequent Pregnancy
Fetal-Neonatal Consequences of Maternal Antinuclear Antibodies
Fetal-Neonatal Consequences of Maternal Antiphospholipid Antibodies
Myasthenia Gravis
Herpes Gestationis
Summary
Key Points
References
21
21 Obstetric Management of Multiple Gestation and Birth
Abstract
Keywords
Biology
Maternal Consequences
Fetal and Neonatal Consequences
Malformations
Embryonic and Fetal Demise
Complications of the Monochorionic Placenta
Fetal Growth
Data From Multiple Birth Data Sets
Levels of Discordance
Mortality
Birth Weight Discordance in Monochorionic Twins
Delivery Considerations
Outcome
Summary: Prevention Versus Cure
Key Points
References
22
22 Post-Term Pregnancy
Abstract
Keywords
Risks of Post-Term Pregnancy
Macrosomia
Dysmaturity
Assessment of Fetal Well-Being
Should Labor Be Induced Before 42 Weeks?
How Should Labor Be Induced?
Post-Term Twin Pregnancies
Summary
Key Points
References
23
23 Immune and Nonimmune Hydrops Fetalis
Abstract
Keywords
Immune Hydrops Fetalis
Genetics of the Rh System
Pathophysiology of Rh-D Isoimmunization
Management
Prevention
Rh-Immunoglobulin Prophylaxis
Preimplantation Diagnosis
Rh Alloimmunization
Prediction of Anemia
Suppressive Therapy
Intravenous Immunoglobulin
Fetal Transfusion
Intravascular Transfusion
Intraperitoneal Transfusion
Timing of Delivery
Outcome
Short Term
Long Term
Atypical Antigens
Nonimmune Hydrops Fetalis
Diagnosis
Pathophysiology
Differential Diagnosis/Etiology
Antepartum Evaluation
Management
Prognosis
Summary
Key Points
References
24
24 Amniotic Fluid Volume
Abstract
Keywords
Amniotic Fluid Dynamics
Composition
Production and Regulation
Measurement of Amniotic Fluid Volume
Subjective Estimation
Amniotic Fluid Index Measurement
Single Deepest Pocket or Maximal Vertical Pocket
Comparing Amniotic Fluid Assessment Techniques
Other Techniques
Normal Volume and the Singleton Pregnancy
Twins and Amniotic Fluid
Abnormalities of Amniotic Fluid Volume and Their Management
Oligohydramnios
Clinical Implications
Etiology
Diagnostic Evaluation
Rule Out Ruptured Membranes
Assess Fetal Anatomy
Assess Fetal Growth
Assess Fetal Pulmonary Status
Treatment
Maternal Hydration
Amnioinfusion
Tissue Sealants
Polyhydramnios
Clinical Implications
Etiology
Diagnostic Evaluation
Assess Fetal Anatomy
Treatment
Amnioreduction
Prostaglandin Synthetase Inhibitors
Close Surveillance
Management of Fluid Abnormalities in Multifetal Pregnancies
The Future
Key Points
References
25
25 Perinatal Infections and Chorioamnionitis
Abstract
Keywords
Definitions and Epidemiology
Risk Factors
Microbiology
Diagnosis
Pathogenesis
Treatment
Obstetric Management
Management of the Exposed Infant
Outcomes
Areas for Future Investigation
Key Points
References
26
26 Placental Pathology
Abstract
Keywords
Optimal Use of Pathology Service
Structure, Function, and Pathologic Reaction Patterns
Overview
Maternal Uterine-Trophoblastic Lesions
Fetal Stromal-Vascular Lesions
Inflammatory and Infectious Lesions
Inflammatory Graft-Versus-Host–Type Lesions
Developmental and Structural Lesions
Clinical Correlation
Umbilical Cord Coiling
Summary
Key Points
References
27
27 Anesthesia for Labor and Delivery
Abstract
Keywords
Labor Pain Characteristics and Challenges
Techniques That Modify Pain
Nonpharmacologic Approaches
Natural Childbirth
Hypnosis
Water Birth
Acupuncture
Pharmacokinetics, Pharmacodynamics, and the Fetus
Sedatives
Opioids
Opioid Agonists
Opioid Agonist-Antagonists
Opioid Antagonists
Nitrous Oxide
Obstetric Nerve Blocks
Paracervical Blocks
Pudendal Blocks
Neuraxial Blocks
Techniques
Lumbar Epidurals
Patient-Controlled Epidural Analgesia (PCEA)
Intrathecal Injections (Spinals)
Combined Spinal-Epidurals (CSE)
Programmed Intermittent Epidural Bolusing
Maternal Risks and Benefits With Neuraxial Techniques
Benefits
Maternal Side Effects
Maternal Risks
Cesarean Sections
Labor Prolongation
Operative Vaginal Deliveries
Maternal Temperature Elevation
Inadvertent Injections and Excessively High Levels
Benefits and Potential Risks for the Fetus
Acid-Base Balance
Fetal Heart Rate
Breastfeeding
Delivery Modes and Anesthetic Techniques
Operative Vaginal Delivery
Cesarean Section
Neuraxial Anesthesia
General Anesthesia
Adjuvant Medications
Key Points
References
28
28 Physical Examination of the Newborn
Abstract
Keywords
Routine Examination
Preparation
Introduction to the Parents
Order of the Examination
Measurements
General Observation of Appearance, Posture, and Movements
Syndromes
Skin
Head
Eyes
Ears
Mouth and Palate
Neck
Breathing and Chest
Heart
Abdomen
Genitalia
Limbs and Hands and Feet
Hips
Back and Spine
Posture and Muscle Tone
Concluding the Exam
Detailed Neurologic Assessment
Level of Alertness
Inspection
Cranial Nerves
Motor Function
Deep Tendon Reflexes
Developmental Reflexes
Behavioral Evaluation
Assessment of Gestational Age
The Premature Infant
Interpretation of the Neurologic Examination
Limitations of the Routine Examination
Jaundice
Eye Abnormalities
Congenital Heart Disease
Developmental Dysplasia of the Hip
Health Promotion
Prevention of Sudden Unexpected Infant Death Syndrome
Promotion of Breastfeeding
Hearing, Vision, and Other Screening
Discharge
Key Points
References
29
29 Birth Injuries
Abstract
Keywords
Injuries to Soft Tissues
Erythema and Abrasions
Petechiae
Etiology
Differential Diagnosis
Treatment
Prognosis
Ecchymoses
Treatment
Prognosis
Subcutaneous Fat Necrosis
Etiology
Pathology
Clinical Manifestations
Differential Diagnosis
Treatment
Prognosis
Lacerations
Injuries to the Head
Skull
Caput Succedaneum
Etiology
Clinical Manifestations
Differential Diagnosis
Treatment
Prognosis
Cephalhematoma
Etiology
Clinical Manifestations
Radiographic Manifestations
Differential Diagnosis
Treatment
Prognosis
Subgaleal Hemorrhage
Etiology
Mechanism of Injury
Clinical Manifestations
Radiographic Manifestations
Differential Diagnosis
Treatment
Prognosis
Skull Fractures
Etiology
Clinical Manifestations
Radiographic Manifestations
Differential Diagnosis
Treatment
Prognosis
Intracranial Hemorrhage
Face
Facial Nerve Palsy
Etiology
Clinical Manifestations
Differential Diagnosis
Treatment
Prognosis
Fractures and Dislocations of Facial Bones
Treatment
Prognosis
Eyes
Eyelids
Orbit
Sympathetic Nervous System
Subconjunctival Hemorrhage
External Ocular Muscles
Optic Nerve
Cornea
Intraocular Hemorrhage
Ears
Abrasions and Ecchymoses
Hematomas
Lacerations
Vocal Cord Paralysis
Etiology
Clinical Manifestations
Differential Diagnosis
Treatment
Prognosis
Injuries to the Neck, Shoulder Girdle, and Chest
Fracture of the Clavicle
Etiology
Clinical Manifestations
Differential Diagnosis
Treatment
Prognosis
Fracture of Ribs
Etiology
Clinical Manifestations
Mechanism of Injury
Treatment
Prognosis
Brachial Palsy
Etiology
Clinical Manifestations
Differential Diagnosis
Treatment
Prognosis
Phrenic Nerve Paralysis
Etiology
Clinical Manifestations
Radiographic Manifestations
Differential Diagnosis
Treatment
Prognosis
Injury to the Sternocleidomastoid Muscle
Etiology
Clinical Manifestations
Differential Diagnosis
Treatment
Prognosis
Injuries to the Spine and Spinal Cord
Etiology
Clinical Manifestations
Differential Diagnosis
Treatment
Prognosis
Injuries to Intra-Abdominal Organs
Rupture of the Liver
Etiology
Clinical Manifestations
Differential Diagnosis
Treatment
Prognosis
Rupture of the Spleen
Etiology
Clinical Manifestations
Differential Diagnosis
Treatment
Prognosis
Adrenal Hemorrhage
Etiology
Clinical Manifestations
Radiographic Manifestations
Differential Diagnosis
Treatment
Prognosis
Renal Injury
Etiology
Clinical Manifestations
Differential Diagnosis
Treatment
Prognosis
Injuries to the Extremities
Fracture of the Humerus
Etiology
Clinical Manifestations
Differential Diagnosis
Treatment
Prognosis
Fracture of the Radius
Etiology
Clinical Manifestations
Treatment
Prognosis
Fracture of the Femur
Etiology
Clinical Manifestations
Treatment
Prognosis
Dislocations
Epiphyseal Separations
Deep Tendon Injuries
Risk Factors Associated With Deep Tendon Injury
Management
Other Peripheral Nerve Injuries
Trauma to the Genitalia
Scrotum and Labia Majora
Deeper Structures
Injuries Related to Intrapartum Fetal Monitoring
Injuries Related to Direct Fetal Heart Rate Monitoring
Injuries Related to Fetal Scalp Blood Sampling
Injuries Related to Trauma During Pregnancy
Key Points
References
30
30 Congenital Anomalies
Abstract
Keywords
General Clinical Approach
Epidemiology and Etiology
Major Malformations
Genetic
Complex or Multifactorial
Single Gene (Mendelian)
Chromosomal
Environmental Exposure and Teratogens
Unknown
Anomalies in Aborted Fetuses
Minor Anomalies and Phenotypic Variants
Racial and Ethnic Differences
Evaluation
Patient and Family History
Physical Examination
Skin
Hair
Head
Face
Eyes
Ears
Nose
Mouth
Neck
Chest
Abdomen
Anus
Genitalia
Spine
Extremities
Evaluation of the Stillborn
Diagnostic Testing and Indications
General Studies
Genetic Laboratory Studies
Genetic Counseling
Educational Resources and Support Organizations
Acknowledgments
Key Points
References
31
31 Overview and Initial Management of Delivery Room Resuscitation
Abstract
Keywords
Fetus
Transition at Birth
Causes of Depression and Asphyxia
Response to Asphyxia
Preparation for Resuscitation
Adequate Equipment
Adequate Personnel
Apgar Score
Umbilical Cord Blood Gases
Elements of a Resuscitation
Initial Quick Overview
Initial Steps
Thermal Management
Clearing the Airway
Monitoring
Tactile Stimulation and Assessment
Free-Flow Oxygen
Key Points
References
32
32 Role of Positive Pressure Ventilation in Neonatal Resuscitation
Abstract
Keywords
Normal Transition and Initial Spontaneous Breathing
Delayed Transition and Need for Respiratory Support
Basics of Positive Pressure Support
Application of Noninvasive Positive Pressure Support
How to Generate Positive Pressure
Self-Inflating Bags (SIB)
Flow-Inflating Bags (FIB)
T-Piece Devices
Other Options for Providing Positive Pressure
Choosing an Interface to Deliver Positive Pressure
Face Masks
Single Nasal Tube and Bi-Nasal Prongs
Assessing the Effectiveness of Non-Invasive Positive Pressure Ventilation
Laryngeal Mask Airway
Endotracheal Tube
Intubation Procedure
Applying Positive Pressure Support
The First Breaths
Peak Inflation Pressures and Tidal Volumes
Positive End Expiratory Pressure
Inflation Rate and Duration
Gas Flow
Key Points
References
33
33 Oxygen Therapy in Neonatal Resuscitation
Abstract
Keywords
Use of Oxygen in Perinatal Asphyxia and Resuscitation
Oxidative Stress: Pathophysiologic Background
Oxidative Stress: Differences Between Resuscitation With 100% Oxygen and Room Air
Room Air versus Pure Oxygen for Resuscitation of the Newborn
Animal Studies
Clinical Data
Oxygen Supplementation in the Delivery Room in Extremely Low Gestational Age Neonates
Oxygen Saturation Nomogram
Room Air versus 100% Oxygen— or Something Else
Key Points
References
34
34 Chest Compression, Medications, and Special Problems in Neonatal Resuscitation
Abstract
Keywords
Importance of Effective Ventilation
Chest Compressions
Medications
Epinephrine
Volume
Other Drugs
Intravenous Access
When to Discontinue Resuscitation Efforts
Documentation and Debriefing
Immediate Care After Establishing Adequate Ventilation and Circulation
Induced Therapeutic Hypothermia
Sodium Bicarbonate
Naloxone
Dopamine
Prolonged Assisted Ventilation
Glucose
Fluids
Feeding
Other Problems
Special Problems During Resuscitation
Infants With Very Low Birth Weight and Extremely Premature Infants
Meconium Aspiration
Pneumothorax
Congenital Diaphragmatic Hernia
Erythroblastosis and Hydrops Fetalis
Screening for Congenital Defects
Physical Examination
Key Points
References
35
35 Thermal Environment of the Intensive Care Nursery
Abstract
Keywords
Heat Exchange Physics
The Four Modes of Heat Exchange
Heat Exchange at Term Birth
Evaporative Heat Loss Is Related to Infant Maturity and Ambient Humidity
Respiratory Loss of Heat
Thermal Physiology
The Fetal Thermal Equilibrium
Neonatal Thermoregulation
Thermoneutrality
Overwarming Versus Fever
Hypothermia
Temperature Monitoring
Central (“Core”) Body Temperature
What Temperature Should Be Aimed for?
Peripheral Temperature and Central-Peripheral Temperature Difference
Thermal Aspects of the Care Environment
Convective Thermal Support—Incubator Care
Incubator Humidification
Radiant Thermal Support—Radiant Warmers
Conductive Thermal Support— Skin-to-Skin Care
Heated Mattresses and Cot Nursing
Clothing
Phototherapy
Recommendations for Practice
Before Birth
Term and Moderate to Late Preterm (>32 Weeks) Infants
Very (28-31 Weeks) and Extremely (<28 Weeks) Preterm Infants
Key Points
References
36
36 Optimization of the NICU Environment
Abstract
Keywords
Neurobehavioral Maturation
Behavioral/Sleep States and NICU Environment
Sensory Functions and NICU Environment
Tactile Function and Skin-to-Skin Contact
Taste and Smell Functions and Environmental Experiences
Vestibular/Proprioceptive Functions
Auditory Functions and Environmental Experiences
Visual Functions and Environmental Experiences
Circadian Rhythm and NICU Environment
Sensory Functions and Pain
Muscle Tone, Movements, and Reflexes
Sucking and Swallowing
Environment Supporting Growth
Environment Protecting From Infections
Environment Supporting Parent–Infant Interaction
Neurobehavioral Assessment Tools
NICU Design
Health Care Team Perspectives
Conclusion
Key Points
References
37
37 Biomedical Engineering Aspects of Neonatal Cardiorespiratory Monitoring
Abstract
Keywords
Hemodynamic Monitoring
Electrocardiogram
Principle of Operation
Cardiac Output
Principle of Operation
Blood Pressure
Principle of Operation
Blood Gas Monitoring
Oxygenation
Pulse Oximetry
Principle of Operation
Transcutaneous Monitoring of Oxygen
Principle of Operation
Near-Infrared Spectroscopy
Principle of Operation
Carbon Dioxide
End-Tidal Carbon Dioxide Monitoring
Principle of Operation
Transcutaneous Monitoring of Carbon Dioxide
Principle of Operation
Respiratory Monitoring
Flow Sensors
Principle of Operation
Chest Wall Motion Sensors
Principle of Operation
Future Directions
Key Points
References
38
38 Diagnostic Imaging of the Neonate
Abstract
Keywords
Introduction
Radiography, Fluoroscopy, and Computed Tomography
Ultrasound
MRI
Scintigraphy
Chest
Evaluating a Normal Chest
Catheters, Tubes, and Lines
Respiratory Disease: Medically Treated
Respiratory Distress Syndrome
Neonatal Pneumonia
Transient Tachypnea of the Newborn
Meconium Aspiration Syndrome
Pulmonary Hemorrhage
Bronchopulmonary Dysplasia
Respiratory Disease: Surgically Treated
Congenital Diaphragmatic Hernia
Congenital Pulmonary Airway Malformations
Congenital Lobar Overinflation
Esophageal Atresia and Tracheoesophageal Fistula
Heart
Gastrointestinal Tract
High Intestinal Obstruction
Midgut Malrotation
Duodenal Atresia
Jejunal Atresia
Low Intestinal Obstruction
Hirschsprung Disease
Functional Immaturity of the Colon
Meconium Ileus
Ileal Atresia
Anorectal Malformation
Necrotizing Enterocolitis
Hepatobiliary Tract
Biliary Atresia
Choledochal Cyst
Cholelithiasis
Hepatic Calcifications
Liver Tumors
Urinary Tract
Obstructive Uropathy
Multicystic Dysplastic Kidney
Autosomal Recessive Polycystic Kidney Disease
Renal Vein Thrombosis
Nephrocalcinosis
Adrenal Glands
Adrenal Hemorrhage
Neuroblastoma
Brain
Germinal Matrix Hemorrhage
Periventricular Leukomalacia
Neonatal Encephalopathy in Term Infants
Lenticulostriate Vasculopathy
Spine
Tethered Cord
Skeletal
Intrauterine Infection
Postnatal Infection
Developmental Dysplasia of the Hip
Congenital and Developmental Anomalies
Rickets
Future Directions
Acknowledgments
Key Points
References
39
39 Anesthesia in the Neonate
Abstract
Keywords
Developmental Challenges of Neonatal Anesthesia
Anesthesia, Neonatal Physiology, and Specific Concerns
Transition Phase and Persistent Pulmonary Hypertension of the Neonate
Respiratory Physiology: Apnea, Central Control of Ventilation, and Respiratory Distress Syndrome
Airway Anatomy
Cardiac Physiology
Fetal Hemoglobin
Renal Physiology
Temperature Regulation
Carbohydrate Metabolism
Oxygen Therapy and Retinopathy of Prematurity and Chronic Lung Disease
Conduct of an Anesthetic
Preoperative Evaluation and Preparation
Transport Within Hospital
Operating Room Equipment and Monitoring
General Anesthesia
Inhalational Agents
Intravenous Agents
Neuromuscular Blocking Agents
Induction of General Anesthesia
Maintenance of Anesthesia
Recovery From Anesthesia
Local and Regional Anesthesia
Key Points
References
40
40 The Late Preterm Infant
Abstract
Keywords
Definition
Epidemiology and Trends
Etiology
Medical Interventions and Iatrogenic Causes
Gestational Age Assessment and Obstetric Practice Guidelines
Advanced Maternal Age, Assisted Reproductive Technologies, and Multiple Births
Pathophysiology
Thermoregulation
Feeding
Glucose Homeostasis
Neurologic Immaturity
Respiratory
Role of Fetal Lung Fluid Clearance in Neonatal Transition
Clinical Outcomes
Mortality
Respiratory
Temperature Instability and Hypoglycemia
Gastrointestinal Tract
Hyperbilirubinemia
Immunity and Infection
Hospitalizations and Rehospitalizations After Discharge
Economic Impact
Long-Term Outcomes and Societal Costs
Management
Admission
Discharge Criteria
Key Points
References
41
41 Nutrient Requirements/Nutritional Support in Premature Neonate
Abstract
Keywords
Growth in the Neonatal Intensive Care Unit
Growth and Neurodevelopmental Outcomes
Nutrient Requirements
Protein and Amino Acid Requirements
Protein Composition of Human Milk and Formula
Energy and Carbohydrate Requirements
Fetal Glucose Metabolism
Neonatal Glucose Homeostasis
Energy Expenditure
Carbohydrates
Recommended Energy Intake
Lipid Requirements
Provision of Nutritional Support
Goals of Early Intense Nutritional Support
Initiation and Advancement of Enteral Feeds
Minimal Enteral Feeding
Rate of Advancement of Enteral Feeds
Gastric Residuals
Standardized Feeding Guidelines
Evidence Supporting Early Parenteral Amino Acids
Intravenous Amino Acid Mixtures
Glucose
Intravenous Fat Emulsions
Human Milk
Donor Human Milk
Human Milk Fortifiers
Formula
Preterm Formulas
Specialized Formulas
Electrolytes
Minerals
Zinc and Other Trace Elements
Iron
Vitamins
Complications of Parenteral Nutrition
Postdischarge Nutrition
Long-Term Effects of Early Nutritional Support
Controversies in Neonatal Nutrition and Areas of Further Study
Acknowledgment
Key Points
References
42
42 Support for the Family
Abstract
Keywords
Normal Mother–Infant Attachment
Formation of Mother–Infant Attachment
Attachment in Pregnancy
Attachment During Labor
Attachment in the First Hours After Birth
Attachment in the First Days of Life
Sensitive Period
Feeding
Attachment Challenges With Sick or Premature Infants
Difficulty in Bonding
Interventions for Premature or Sick Infants and Their Parents
Parental Stress
Interventions to Support Parents and Infant
Kangaroo Care (See Also Chapter 36)
Family Engagement
Paternal Issues
Staff–Parent Communication
Family-Centered Care in the Neonatal Intensive Care Unit
Parental Mental Health Issues
Postpartum Depression
Postpartum Anxiety
Post-Traumatic Stress Disorder
Grief
Persisting Trauma Reactions and Complex Grief
Postpartum Psychosis
Personality Disorders
Boundary Issues and Families With Multiple Risk Factors
Perinatal Psychotherapy
Discharge Planning
Acknowledgments
Key Points
References
43
43 Principles of Drug Use in the Fetus and Neonate
Abstract
Keywords
Fetal Drug Disposition
Maternal Pharmacokinetics
Placental Handling of Drug
Fetal Pharmacokinetics
Exposure of the Fetus to Drugs
Neonatal Drug Disposition
Absorption of Drugs in the Neonate
Drug Distribution in the Neonate
Drug Metabolism in the Neonate
Renal Excretion of Drugs
Key Points
References
44
44 Principles of Drug Use During Lactation
Abstract
Keywords
Passage of Exogenous Compounds From Maternal Blood to Milk
Delivery of Compounds to and Disposition by the Infant
Compounds in Breast Milk
Antibiotics
Anticoagulants
Anticonvulsants
Antidepressants and Antipsychotics
Antihypertensives
Oral Contraceptives
Pain Medications
Reflux Medications
Nontherapeutic Agents in Breast Milk
Caffeine
Nicotine
Marijuana
Ethanol
Narcotics
Conclusions Concerning Breastfeeding and Maternal Drug Therapy
Key Points
References
45
45 Pharmacokinetics in Neonatal Medicine
Abstract
Keywords
Drug Disposition Explains Drug Exposure Over Time: Absorption, Distribution, Metabolism, and Excretion
Drug Absorption and Route of Drug Administration
Drug Distribution and Volume of Distribution
Drug Metabolism
Drug Excretion
Drug Disposition Impacts PK Characteristics of Drugs in Neonates
Pharmacokinetic Models Describe Concentration of Drug Over Time
First-Order or Zero-Order Kinetics
One- Versus Two-Compartment PK Models
Body Composition and Organ Function Affect Pharmacokinetics
Basic Pharmacokinetic Calculations for Clinicians
Pharmacokinetic Calculations Accounting for Infusion Time
Pharmacokinetic Calculations After Multiple Doses
Pharmacodynamics
Example of Simple Pharmacokinetic Calculations to Derive Dose Adjustments
Key Points
References
46
46 Infants of Substance-Using Mothers
Abstract
Keywords
Prenatal and Perinatal Considerations
Neonatal Considerations
Marijuana (Cannabinoids)
Opioids
Birth Defects
Growth
Neonatal Neurobehavior/Withdrawal
Prevalence
Epidemiology
Risk Factors
Clinical Presentation
Diagnosis
Assessment
Nonpharmacologic Treatment
Pharmacologic Treatment
Prevention of NAS
Long-Term Outcomes
Benzodiazepines and Barbiturates
Cocaine
Birth Defects
Growth
Neurobehavior/Withdrawal
Long-Term Outcomes
Amphetamines
Key Points
References
47
47 Developmental Immunology
Abstract
Keywords
Overview of Hematopoiesis
Innate Immunity
Cellular Components
Polymorphonuclear Neutrophil System
Kinetics of Production and Circulation
Normal PMN Concentrations and Neutropenia.
Overview of Polymorphonuclear Neutrophil Function
Rolling and Adhesion.
Chemotaxis.
Phagocytosis.
Microbicidal Activity.
Degranulation.
Summary
Mononuclear Phagocyte System
Production and Differentiation
Mononuclear Phagocyte Functions
Cytokine Production.
Summary
Humoral Components
Overview of Serum Opsonins
Complement System
Activation Pathways and Overview of Functional Products
Ontogeny and Analysis of the Complement System in the Neonatal Period
Summary
Fibronectin
Structure and Function
Role in Immune Responses
Summary
Other Humoral Factors
Pentraxins
Lactoferrin
Collectins
Cytokines and Chemokines
Overview
Cytokine and Chemokine Biology
Interleukin-1 Superfamily.
Interleukin-6.
Interleukin-10 Superfamily.
Interleukin-12 and Interferon-γ.
Tumor Necrosis Factor Superfamily.
Platelet-Activating Factor.
Chemokines.
Coordinated Inflammatory Response in Neonatal Sepsis
Acquired Immunity
Cell-Mediated and Antibody-Mediated Responses
Overview
T Lymphocytes
Overview
T-Cell Development
Role of Cytokine Receptor Signaling in Lymphocyte Development
T-Lymphocyte Activation and Maturation
Role of Cytokines in T-Cell Function
T-Cell Function in Neonates
Other T-Cell Subgroups
Dendritic Cells.
Cytotoxic T-Lymphocytes (CTLs).
γδ T cells.
Natural Killer T Cells.
Summary
B Lymphocytes and Antibody Production
Overview of B-Cell Function and Phenotypic Appearance
B-Cell Development
B-Cell Activation by B-Cell Antigen Receptors and Coreceptors
Role of Cytokines in B-Cell Function
B-Cell Responses in Neonates
CD5-Expressing B Cells
Immunoglobulin Structure and Function
Antibody Production in Fetuses and Neonates
Innate Lymphoid System
Natural Killer Cells
Phenotypic and Functional Characteristics
Noncytotoxic ILC
Phenotypic and Functional Characteristics
Summary
Passive Immunity
Placental Transport of Antibodies
Immunologic Properties of Human Breast Milk
Summary
Evaluation of Host Defenses in Neonates
Key Points
References
48
48 Postnatal Bacterial Infections
Abstract
Keywords
Neonatal Sepsis
Epidemiology and Microbiology
Clinical Presentation
Diagnosis
Management
Prevention
Bacterial Infections by Organ System
Meningitis
Pneumonia
Urinary Tract Infections
Osteomyelitis and Septic Arthritis
Ophthalmia Neonatorum
Omphalitis
Specific Pathogens
Group B Streptococcus
Staphylococcus aureus
Syphilis
Listeriosis
Tuberculosis
Botulism
Tetanus
Acknowledgments
Key Points
References
49
49 Fungal and Protozoal Infections of the Neonate
Abstract
Keywords
Definitions
Microbiology
Pathogenesis and Pathophysiology
Prematurity
Incidence
Complex Gastrointestinal Disease
Congenital Heart Disease
Extracorporeal Membrane Oxygenation
Outcomes
Neurodevelopmental Impairment
Survival
Candida-Related Mortality
Hospital Costs
Risk Factors
Colonization
Colonization by Site
Diagnosis
Evaluation and Diagnosis
Cultures
End-Organ Dissemination
Molecular Techniques and (1-3)-Beta-D-Glucan (BDG)
Clinical Manifestations
Invasive Candida Infections
Skin-Invasive Infections
Congenital Cutaneous Candidiasis
Cutaneous Candidiasis
Bloodstream Infection
Candidemia
Renal Candidiasis
Urinary Tract Infection
Renal Abscess
Central Nervous System Candidiasis
Meningitis and Meningoencephalitis
Central Nervous System Abscess
Gastrointestinal Disease
Peritonitis
Respiratory Disease
Pneumonia
End-Organ Dissemination
Endocarditis and Infected Vascular Thrombi
Endophthalmitis and Retinopathy of Prematurity
Treatment
Amphotericin B Preparations
Azole Agents
Fluconazole
Voriconazole
Echinocandin Agents
Combination Therapy
Central Venous Catheter Removal With Bloodstream Infections
Time to Clearance of Blood and Persistent Candidemia
Adjunctive Therapies
Treatment Summary
Empiric Therapy
Pre-Emptive Treatment
Prevention
Fluconazole
Safety of Fluconazole Prophylaxis
Azole Resistance
Systematic Reviews of Fluconazole Prophylaxis
Nystatin Prophylaxis
Fluconazole Versus Nystatin Prophylaxis
Timing of Prophylaxis
Cost Effectiveness of Antifungal Prophylaxis
Conclusions
Infection Control and Prevention Group Recommendations
Antifungal Prophylaxis Summary
Targeted Prophylaxis in High-Risk Patients
Fluconazole Prophylaxis Dosing Recommendation
Infection Control Measures to Prevent Invasive Candida Infections
Prenatal Detection and Eradication of Maternal Vaginal Candidiasis
Medication and Feeding Stewardship
Central Line–Associated Bloodstream Infection Bundles
Lactoferrin
Probiotics
Invasive Candida Infection Summary
Aspergillus, Mucormycosis, Malassezia, and Trichosporin Infections in the Neonatal Intensive Care Unit
Other Fungal Infections
Coccidioidomycosis
Incidence
Microbiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Cryptococcosis
Incidence
Microbiology
Pathogenesis and Pathology
Clinical Manifestations
Diagnosis
Treatment
Histoplasmosis
Incidence
Microbiology
Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Other Fungi
Protozoal Infections
Malaria
Incidence
Microbiology
Pathology and Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Pneumocystis
Incidence
Microbiology
Pathology and Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Toxoplasmosis
Incidence
Microbiology
Transmission and Pathogenesis
Clinical Manifestations
Diagnosis
Treatment
Prognosis
Acknowledgment
Key Points
References
50
50 Viral Infections in the Neonate
Abstract
Keywords
Herpesvirus Family
Herpes Simplex Virus
Epidemiology and Transmission
Congenital Herpes Simplex Virus Infection
Neonatal Herpes Simplex Virus Infection
Disseminated Infection
Encephalitis
Skin, Eye, and Mouth Infections
Diagnosis
Therapy
Prevention
Cytomegalovirus (Human Herpesvirus 5)
Epidemiology and Transmission
Maternal Clinical Manifestations
Asymptomatic Congenital Infection
Symptomatic Congenital Infection
Prognosis
Perinatal Infection
Neurologic Impairment
Hearing and Visual Impairment
Antenatal Diagnosis
Neonatal Diagnosis
Treatment
Prevention
Varicella-Zoster Virus (or Human Herpesvirus 3)
Epidemiology and Transmission
Clinical Manifestations
Varicella in Pregnancy
Congenital Varicella Syndrome
Perinatal Chickenpox
Laboratory Diagnosis
Therapy and Prevention
Epstein-Barr Virus (Human Herpesvirus 4)
Human Herpesvirus 6 and 7
Paramyxoviruses Family
Parainfluenza Virus
Mumps
Rubeola (Measles)
Transmission
Laboratory Diagnosis
Clinical Manifestations
Effects on the Pregnant Woman
Effects on the Fetus
Perinatal Measles
Therapy and Prevention
Respiratory Syncytial Virus
Transmission
Clinical Manifestations
Subsequent Respiratory Morbidity
Prophylaxis and Therapy
Eligibility Criteria for Prophylaxis With Palivizumab
Human Metapneumovirus
Human Immunodeficiency Virus
Epidemiology
Pathogenesis
Care of the Mother and Prevention of Vertical Transmission
Care of the Mother and Infant in Developed Countries
Maternal Antepartum/Intrapartum Care
Infant Management (Summarized in Table 50.8)
Safety
Prenatal Testing
Cesarean Section Delivery
Clinical Manifestations
Diagnosis and Care of Infants Exposed to Human Immunodeficiency Virus
Prognosis
Enteroviruses and Parechoviruses
Epidemiology and Transmission
Infection During Pregnancy
Neonatal Infection
Laboratory Diagnosis
Therapy and Prevention
Hepatitis Viruses
Hepatitis A Virus
Hepatitis B Virus
Clinical Manifestations and Hepatitis B Virus Blood Tests
Perinatal Transmission
Prevention
Hepatitis C Virus
Hepatitis D Virus
Hepatitis E Virus
Hepatitis G Virus and GB Virus Type C
Rotavirus
Epidemiology and Transmission
Clinical Manifestations
Parvovirus B19
Clinical Manifestations
Fetal Infection
Diagnosis
Isolation
Influenza A and B
Rubella Virus
Epidemiology and Transmission
Congenital Rubella Syndrome
Diagnosis
Prevention and Therapy
Rhinovirus
Coronavirus: Severe Acute Respiratory Syndrome and Middle East Respiratory Syndrome
West Nile Virus
Adenovirus
Human Papillomavirus
Emerging Viruses
Zika Virus
Epidemiology
Congenital Zika Syndrome
Diagnosis
Infant Follow-Up
Prevention
Acknowledgment
Key Points
References
51
51 Normal and Abnormal Brain Development
Abstract
Keywords
Neural Induction and Neurulation
Neuronal Proliferation
Neuronal Migration and Cortical Lamination
Central Nervous System Organization
Subplate Neurons
Axonal and Dendritic Growth
Synaptogenesis
Programmed Cell Death
Glial Proliferation, Glial Differentiation, and Myelination
Astrocytes
Oligodendrocytes and Myelination
Imaging Characteristics of Myelination
Microglia and Brain Macrophages
Brain Vascular Development
Abnormal Brain Development and Disorders
Disorders of Neural Tube Formation and Prosencephalic Development
Craniorachischisis Totalis, Anencephaly, Myeloschisis, Encephalocele, Myelomeningocele, and Occult Dysraphic States
Holoprosencephaly and Agenesis of the Corpus Callosum
Dandy-Walker Malformation
Abnormalities of Neuronal Proliferation
Microcephaly
Primary Microcephalies
Microcephaly With Simplified Gyral Pattern
Microlissencephaly
Megalencephaly
Disorders of Neuronal Migration
Classic Lissencephalies (Type I Lissencephalies)
LIS1 Mutations (Isolated Lissencephaly and Miller-Dieker Syndrome)
DCX Mutations
Tubulin Mutations
ARX Mutations
Lissencephaly With Cerebellar Hypoplasia
Syndromic Lissencephaly
Cobblestone Lissencephalies (Type II Lissencephalies)
Type III Lissencephaly
X-Linked Periventricular Heterotopia
Zellweger Syndrome
Effects of Environmental Factors on Neuronal Migration
Disorders of Central Nervous System Organization and Maturation
Key Points
References
52
52 White Matter Damage and Encephalopathy of Prematurity
Abstract
Keywords
Neuropathology of White Matter Injury
Historical View
Periventricular Leukomalacia
Macroscopic Neuropathology
Microscopic Neuropathology
New Neuropathologic Insights
Vulnerability of Oligodendroglia Cell Line
Microglial Activity
Neuronal/Axonal Damage
Subplate Damage
Models of Encephalopathy of Prematurity: Implications for Pathogenesis
Hypoperfusion and Hypoxia–Ischemia
Infection and Inflammation
Excitotoxicity and Oxidative Stress
Combined Insults
Neuroimaging of White Matter Injury
Neonatal Sonography
Conventional Magnetic Resonance Imaging
Diffusion Magnetic Resonance Imaging
Functional Magnetic Resonance Imaging—Functional Connectivity
Magnetic Resonance Spectroscopy
Impairment of Brain Growth and Long-Term Development
Key Points
References
53
53 Intracranial Hemorrhage and Vascular Lesions in the Neonate
Abstract
Keywords
Germinal Matrix Hemorrhage–Intraventricular Hemorrhage
Incidence
Timing of the Hemorrhage
Neuropathology
Germinal Matrix Hemorrhage
Intraventricular Hemorrhage
Parenchymal Hemorrhage
Intracerebellar Hemorrhage
Pathogenesis
Prenatal Factors
Intrapartum Factors
Neonatal Factors
Cardiovascular Factors
Genetic Factors
Diagnosis
Management
Neurodevelopmental Outcome
Prevention
Other Hemorrhages
Cerebral Artery Infarction
Sinovenous Thrombosis
Perinatal Arterial Ischemic Stroke
Incidence
Diagnosis
Risk Factors
Prognosis
Key Points
References
54
54 Hypoxic–Ischemic Encephalopathy
Abstract
Keywords
Definitions
Hypoxic–Ischemic Encephalopathy
Hypoxia or Anoxia
Ischemia
Perinatal Asphyxia
Pathophysiology
Systemic Adaptation to Hypoxic–Ischemic Insult
Preconditioning
Perinatal Hypoxic–Ischemic Brain Damage
Secondary Neuronal Death
Glutamate Injury (Excitotoxicity)
Free Radical Formation
Apoptosis
Cytokines
Human Studies
Selective Vulnerability
Cellular Susceptibility
Maturity
Vascular Territories
Regional Susceptibility
Types of Hypoxic–Ischemic Insult
Others
Neuropathology
Cerebral Edema
Cellular Responses
Calcification
Chronic Lesions
Assessment Tools
Clinical Examination
Neurophysiology
Electroencephalography
Evoked Potentials
Neuroimaging
Chemical Biomarkers
Management
Primary Prevention
Resuscitation
Systemic Management
Renal System
Cardiovascular System
Hepatic and Gastrointestinal Systems
Hematologic System
Brain-Oriented Management
Glucose
Seizures
Cerebral Edema
Corticosteroids
Specific Neuroprotective Strategies
Hypothermia
Other Strategies
Prognostic Factors
Apgar Scores and Condition at Birth
Acidosis
Other Biochemical Predictors of Outcome
Severity of Encephalopathy
Electrophysiology and Imaging
Association Between Hypoxic– Ischemic Encephalopathy and Less Severe Neurodisability
Acknowledgment
Key Points
References
55
55 Seizures in Neonates
Abstract
Keywords
Pathophysiology of Newborn Seizures—Unique Maturational Features Increasing the Likelihood of Seizures in the Newborn
Biochemical and Physiologic Consequences of Seizures in the Immature Brain—Implications for the Clinician
Classification of Seizures in the Newborn
Seizure Types
Subtle Seizures
Clonic Seizures
Tonic Seizures
Myoclonic Seizures
EEG-Only (Subclinical, Nonconvulsive, Occult) Seizures
Nonepileptic Movements
Jitteriness
Nonepileptic Myoclonus
Pathologic Myoclonus
Hyperekplexia
Does Absence of EEG Seizure Activity Indicate That a Clinical Event Is Nonepileptic?
Seizure Etiology
Hypoxic-Ischemic Encephalopathy
Ischemic Stroke
Intracranial Hemorrhage
Intracranial Infection
Developmental Defects
Metabolic Disturbances
Hypoglycemia
Hypocalcemia
Inborn Errors of Metabolism
Drug Withdrawal
Neonatal Epilepsy Syndromes
Benign Familial Neonatal Epilepsy (BFNE)
Benign Nonfamilial Neonatal Convulsions
Early Myoclonic Encephalopathy (EME) and Early Infantile Epileptic Encephalopathy (EIEE, Ohtahara Syndrome)
Diagnosis
Electroencephalogram and Electroencephalographic Monitoring
Amplitude-Integrated EEG (aEEG)
Prognosis
General Outcomes
Predicting Outcome in Individual Patients
Relation of Neurologic Disease to Outcome
Relation of EEG to Outcome
Management
Selection of Who to Treat
Adequacy of Treatment
Usual Sequence of Therapy
Anticonvulsant Medications
Phenobarbital
Phenytoin and Fosphenytoin
Benzodiazepines (Lorazepam, Diazepam, Midazolam)
Lidocaine
Levetiracetam (Keppra)
Topiramate
Other Drugs and Treatments
Other Modes of Therapy
Metabolic Strategies
Maintenance Therapy
Duration of Therapy
Key Points
References
56
56 Hypotonia and Neuromuscular Disease in the Neonate
Abstract
Keywords
Diagnosis
Neonatal Neuromuscular Disorders
Spinal Muscular Atrophies
Hereditary Motor and Sensory Neuropathies
Hereditary Sensory and Autonomic Neuropathies
Neuromuscular Junction Disorders
Congenital Muscular Dystrophy
Congenital Myotonic Dystrophy
Other Muscular Dystrophies
Congenital Myopathies
Nemaline Myopathy
Central Core Disease
Multi-Minicore Myopathy
Myotubular Myopathy
Metabolic and Multisystem Disorders
Mitochondrial Myopathies
Disorders of Glycogen Metabolism
Pompe Disease (Type II Glycogen Storage Disease)
Debrancher Enzyme Deficiency (Type III Glycogen Storage Disease)
McArdle Disease (Type V Glycogen Storage Disease)
Phosphofructokinase Deficiency (Type VII Glycogen Storage Disease)
Primary Carnitine Deficiency
Peroxisomal Disorders
Acknowledgments
Key Points
References
57
57 Intracranial and Calvarial Disorders
Abstract
Keywords
Summary
Examination of the Head
The Neonate
Neurulation and Cleavage
Migration
Congenital Infections
Hydrocephalus
Intraventricular Hemorrhage
Congenital Brain Malformations
Other Causes
Hydranencephaly
Craniosynostosis
Nonsyndromic Craniosynostosis
Positional Plagiocephaly
Syndromic Craniosynostosis
Conclusion
Key Points
References
58
58 Spinal Dysraphisms
Abstract
Keywords
Summary
Introduction
Embryology
Pathology
Open Spinal Dysraphisms
Closed Spinal Dysraphisms
Prenatal Screening and Prevention
Cutaneous Stigmata
Imaging
Overall Management
Surgical Treatment
Conclusion
Key Points
References
59
59 Hearing Loss in the Newborn Infant
Abstract
Keywords
Background
Normal Hearing and Hearing Loss
Tests for Hearing Loss
Early Intervention Services
Etiology of Hearing Loss
Risk Factors
Medical Workup for Hearing Loss and Care Coordination
Middle Ear Disease
Communication Options
Audiologic Devices
Hearing Aids
Frequency-Modulated Systems
Cochlear Implants
Continued Surveillance
Stress and Impact on the Family
Key Points
References
60
60 Early Childhood Neurodevelopmental Outcomes of High-Risk Neonates
Abstract
Keywords
Medical Problems
Physical Growth
Neurodevelopmental Outcome
Transient Neurologic Problems
Major Neurologic Sequelae
Assessment of Functional Outcomes
Timing of Follow-Up Visits
Developmental and Neurologic Testing
Methodologic Considerations in Neurodevelopmental Outcome Studies
School-Age Outcome
School-Age Behavioral Problems
Young Adult Outcomes
Children Born at the Threshold of Viability
Early Intervention
Key Points
References
61
61 The Role of Neonatal Neuroimaging in Predicting Neurodevelopmental Outcomes of Preterm Neonates
Abstract
Keywords
Cranial Ultrasound
Brain Injury among Preterm Infants Diagnosed by CUS
CUS Findings and Neurodevelopmental Outcomes
Potential Limitations to Interpretation
Conventional (Qualitative) Magnetic Resonance Imaging
White Matter Abnormalities
Areas of the Brain and Findings of Interest
Neonatal MRI to Predict Early Neurodevelopmental Outcomes
Later Childhood Outcomes and Need for Further Study
Advanced MRI: Opening a New Window into the Preterm Developing Brain
Predicting Motor, Cognitive, and Behavioral Abnormalities with Advanced MRI
Future Developments
Key Points
References
62
62 Lung Development and Maturation
Abstract
Keywords
A Brief History
Lung Structural Development
Embryonic Period
Pseudoglandular Stage
Canalicular Stage
Saccular and Alveolar Stages
Fetal Lung Fluid
Pulmonary Hypoplasia
Other Disorders of Lung Development
Alveolar Macrophages
Surfactant Metabolism
Composition
Synthesis and Secretion
Surfactant Pool Sizes
Alveolar Life Cycle of Surfactant
Physiologic Effects of Surfactant in the Preterm Lung
Alveolar Stability
Pressure-Volume Curves
Lung Maturation
Surfactant Appearance With Development
Induced Lung Maturation
Glucocorticoids and Lung Maturation
Intrauterine Infection and Lung Maturation
Key Points
References
63
63 Assessment of Neonatal Pulmonary Function
Abstract
Keywords
Clinical Observations
Respiratory Rate
Retractions
Nasal Flaring
Grunting
Cyanosis
Cardiovascular Assessment
Blood Gas Measurements
Invasive Blood Gas Measurements
Partial Pressure of Alveolar Oxygen and Carbon Dioxide
Partial Pressure of Arterial Oxygen
Partial Pressure of Arterial Carbon Dioxide
Noninvasive Blood Gas Measurements
Carbon Dioxide
Oxygen
Pulse Oximetry: Optimal Oxygen Saturation Target Range
Pulse Oximetry: Screening for Critical Congenital Heart Disease
Pulse Oximetry: Perfusion Index
Hyperoxia–Hyperventilation Test
Evaluation of Shunting
Respiratory Function
Physiologic Measurements
Airflow
Lung Volume
Pressure
Respiratory Mechanics
Compliance
Resistance
Time Constant
Forced Expiratory Maneuvers
Forced Oscillation Technique
Work of Breathing
Limitations
Clinical Applications
Key Points
References
64
64 Respiratory Distress Syndrome in the Neonate
Abstract
Keywords
Incidence
Pathophysiology
Heritability of Respiratory Distress Syndrome
Prevention: Pharmacologic Acceleration of Pulmonary Maturation
Clinical Features
Radiographic Findings
Treatment
Positive-Pressure Ventilation
Surfactant Therapy
Inhaled Nitric Oxide Therapy
Assessment of Blood Gas Status
Noninvasive Monitoring: Pulse Oximetry
Noninvasive Carbon Dioxide Monitoring
Arterial Sampling
Acid–Base Therapy
Cardiovascular Management
Antibiotics
Key Points
References
65
65 Assisted Ventilation of the Neonate and Its Complications
Abstract
Key words
Continuous Positive Airway Pressure and Noninvasive Ventilation
Physiology of CPAP
Nasal Continuous Positive Airway Pressure
Clinical Indications for CPAP in Newborns
Methods of Generating Continuous Positive Airway Pressure
Flow-Driven CPAP
Bubble CPAP
Ventilator-Derived CPAP
Sustained Inflation at Neonatal Resuscitation
CPAP Immediately After Birth
High-Flow Nasal Cannula (HFNC)
Noninvasive Nasal Ventilation
Clinical Indications for NIPPV
New Modes of NIPPV
CPAP and Surfactant Administration
Practical Problems of NCPAP
Complications of CPAP
Postextubation CPAP
Discontinuing CPAP
Long-Term Outcomes
Indications for Assisted Ventilation
General Principles of Assisted Ventilation
Oxygenation
Ventilation
Time Constant
Classification of Mechanical Ventilators
Control Variables (Ventilatory Modalities)
Phase Variables (Ventilatory Modes)
Modes of Ventilation
Intermittent Mandatory Ventilation
Synchronized Intermittent Mandatory Ventilation
Assist/Control Ventilation
Pressure Support Ventilation
Proportional Assist Ventilation
Pressure-Targeted Modalities
Volume-Targeted Modalities
Volume-Controlled Ventilation
Hybrid Volume-Targeted Ventilation
Volume Guarantee Ventilation
Pressure-Regulated Volume Control Ventilation
Volume-Assured Pressure Support Ventilation
Volume Support Ventilation
Pressure Augmentation
Suggested Ventilatory Management Guidelines
Weaning Infants From Assisted Ventilation
Weaning Strategies
Weaning and Ventilator Modes
SIMV and PSV
Assessment for Extubation
Postextubation Care
High-Frequency Ventilation
High-Frequency Jet Ventilation
High-Frequency Oscillatory Ventilation
Monitoring of Ventilated Infants
Clinical Evaluation
Assessment of Gas Exchange
Blood Gases and Acid-Base Balance
Base Deficit
Capnometry or End-Tidal Carbon Dioxide Monitoring
Radiography and Other Chest Imaging
Real-Time Pulmonary Graphic Monitoring
Volume and Pressure Waveforms
Flow Waveform
Pulmonary Mechanics (Loops)
Complications of Assisted Ventilation
Airway
Upper Airway
Trachea
Lungs
Ventilator-Associated Pneumonia
Air Leaks
Ventilator-Induced Lung Injury
Bronchopulmonary Dysplasia (Chronic Lung Disease)
Miscellaneous Complications
Imposed Work of Breathing
Patent Ductus Arteriosus
Neurologic Complications
Intraventricular Hemorrhage and Periventricular Leukomalacia
Retinopathy of Prematurity
Key Points
References
66
66 Neonatal Respiratory Disorders
Abstract
Keywords
Developmental Diseases
Pulmonary Underdevelopment: Pulmonary Agenesis, Aplasia, and Hypoplasia
Congenital Diaphragmatic Hernia
Alveolar Capillary Dysplasia
Congenital Pulmonary Lymphangiectasia
Chylothorax
Congenital Cystic Pulmonary Malformations
Congenital Pulmonary Airway Malformation
Bronchopulmonary Sequestration
Bronchogenic Cyst
Congenital Lobar Emphysema
Pulmonary Arteriovenous Malformation
Acquired Neonatal Pulmonary Diseases
Meconium Aspiration Syndrome
Pathophysiology
Clinical Features
Management
In the Delivery Room
In the Neonatal Intensive Care Unit
Other Aspiration Syndromes
Neonatal Pneumonia
Etiology
Clinical Presentation
Management
Transient Tachypnea of the Newborn
Pulmonary Hemorrhage
Pulmonary Air Leak Syndromes
Pathophysiology
Clinical Presentation
Diagnosis
Management
Rib Cage Abnormalities
Asphyxiating Thoracic Dystrophy (Jeune Syndrome)
Thanatophoric Dysplasia
Phrenic Nerve Injury
Key Points
References
67
67 Neonatal Apnea and the Foundation of Respiratory Control
Abstract
Keywords
Fetal Breathing
Postnatal Development of Respiratory Control
Neonatal Breathing Pattern
Hypercapnia and Acidosis
Hypoxia
Laryngeal and Pulmonary Afferent Reflexes
Neurotransmitters and Neuromodulators
Neonatal Apnea, Bradycardia, and Hypoxemia
Definition and Epidemiology
Pathogenesis
Clinical Associations
Gastroesophageal Reflux and Neonatal Apnea
Brief Resolved Unexplained Events (BRUE) (Formerly Known as Apparent Life-Threatening Events or ALTE)
Treatment
Continuous Positive Airway Pressure
Xanthine Therapy
Other Therapeutic Approaches
Resolution and Consequences of Apnea, Bradycardia, and Intermittent Hypoxia
Apnea and Sudden Infant Death Syndrome
Key Points
References
68
68 Upper Airway Lesions in the Neonate
Abstract
Keywords
Nasal and Nasopharyngeal Lesions
Pyriform Aperture Stenosis
Nasolacrimal Duct Cysts
Choanal Atresia
Congenital Nasal Masses
Nasopharyngeal Teratoma
Mucosal Obstruction
Continuous Positive Airway Pressure Trauma
Oral and Oropharyngeal Lesions
Lymphatic Malformations
Oral Cavity Cysts
Laryngeal Lesions
Laryngomalacia
Bifid or Absent Epiglottis
Laryngeal Cysts
Vocal Cord Paralysis
Laryngeal Web
Congenital Subglottic Stenosis
Subglottic Hemangioma
Laryngeal Cleft
Congenital High Airway Obstruction Syndrome
Intubation Trauma
Conclusion
Key Points
References
69
69 Bronchopulmonary Dysplasia in the Neonate
Abstract
Keywords
Epidemiology of BPD
Definition of BPD
Pathogenesis
Prenatal Factors
Postnatal Factors
Mechanical Trauma
Oxygen Toxicity
Postnatal Infection
Patent Ductus Arteriosus and Pulmonary Edema
Other Factors
Final Common Pathway
Pathology
Clinical Presentation
Prediction of Bronchopulmonary Dysplasia
Pulmonary Function
Prevention of BPD
Management of Established BPD
Respiratory Support
Bronchodilator Therapy
Corticosteroid Therapy
Management of Pulmonary Hypertension in BPD
Fluid Management
Nutrition
Control of Infection
Infant Stimulation
Parental Support
Outcome
Key Points
References
70
70 Therapy for Cardiorespiratory Failure in the Neonate
Abstract
Keywords
Extracorporeal Membrane Oxygenation
Basic Techniques
Venovenous Extracorporeal Membrane Oxygenation
Personnel Needs
Criteria for Patient Selection
Gestational Age of 34 Weeks or Older
No Major Intracranial Hemorrhage
Absence of Complex Congenital Heart Disease
Less Than 14 Days of Assisted Ventilation
Reversible Lung Disease
Failure of Maximal Medical Therapy
The Dilemma of Congenital Diaphragmatic Hernia (CDH)
Extracorporeal Membrane Oxygenation Referral
Extracorporeal Membrane Oxygenation Follow-Up
ECMO and Hypothermia Therapy
Cost Analysis
Alternative Uses for Extracorporeal Membrane Oxygenation
Extracorporeal Membrane Oxygenation Present and Future
Nitric Oxide Therapy
Physiology and Pharmacology
Nitric Oxide Toxicity
Neonatal Studies of Inhaled Nitric Oxide
Term Infants
Nitric Oxide in Premature Infants
Alternative Treatments and Avenues for Future Research
Key Points
References
71
71 Cardiac Embryology
Abstract
Keywords
Introduction
Overview of Normal Heart Development
Scientific Basis of Cardiogenesis
Precardiac to Cardiac Tissues: Commitment and Formation of Primary Axes
The Tubular and Looping Heart
Septation
Endocardial Development: Formation of Cushion Tissue
Neural Crest Contributions to Cardiogenesis
Development of the Cardiac Conduction System
Epicardium
Lymphatics
Cell Division and Cell Death
Human Genetics
Therapy
Key Points
References
72
72 Pulmonary Vascular Development
Abstract
Keywords
Fetal Pulmonary Vascular Development
Structural Development
Mediators of Fetal Pulmonary Vascular Tone
Pulmonary Vascular Transition
Vasoactive Mediators of the Pulmonary Vascular Transition
Abnormalities of Pulmonary Vascular Development
Persistent Pulmonary Hypertension of the Newborn
Congenital Diaphragmatic Hernia
Alveolar Capillary Dysplasia
Pulmonary Hypertension in Premature Infants
Clinical Therapy of PPHN
General Care
Pulmonary Vasodilator Therapy
Prostanoids
Milrinone
Endothelin Receptor Antagonists
Outcome and Follow-Up
Key Points
References
73
73 Prenatal Diagnosis of Congenital Heart Disease
Abstract
Keywords
Introduction
Historical Perspective
Overview of Fetal Circulation and Cardiac Adaptation at Birth
Indications for Fetal Echocardiogram
Performance of a Fetal Echocardiogram
Fetal Pathology
Parental Counseling after Fetal Diagnosis of Congenital Heart Disease
Impact of Prenatal Diagnosis
Limitations of Fetal Echocardiogram
Fetal Therapies
Novel Approaches to Prenatal Diagnosis of Congenital Heart Disease
Summary
Key Points
References
74
74 Patent Ductus Arteriosus
Abstract
Keywords
Pathogenesis
Pathophysiology
Clinical Presentation
Diagnostic Evaluation
Management
Key Points
References
75
75 Congenital Defects of the Cardiovascular System
Abstract
Keywords
Summary
Cyanotic Heart Defects: Mixing-Dependent
D-Transposition of the Great Arteries
Anatomy and Pathophysiology
Associated Defects
Clinical Presentation
Diagnostic Evaluation
Management and Prognosis
History
Arterial Switch Operation
Cyanotic Heart Defects: Restricted Pulmonary Blood Flow
Tetralogy of Fallot
Anatomy and Pathophysiology
Associated Defects
Clinical Presentation
Diagnostic Evaluation
Management and Prognosis
Tricuspid Atresia
Anatomy and Pathophysiology
Associated Defects
Clinical Presentation
Diagnostic Evaluation
Management and Prognosis
Pulmonary Atresia With Intact Ventricular Septum
Anatomy and Pathophysiology
Associated Defects
Clinical Presentation
Diagnostic Evaluation
Management and Prognosis
Ebstein Anomaly
Anatomy and Pathophysiology
Associated Defects
Clinical Presentation
Diagnostic Evaluation
Management and Prognosis
Cyanotic Heart Defects: Complete Mixing
Total Anomalous Pulmonary Venous Connection/Return
Anatomy and Pathophysiology
Associated Defects
Clinical Presentation
Diagnostic Evaluation
Management and Prognosis
Truncus Arteriosus
Anatomy and Pathophysiology
Associated Defects
Clinical Presentation
Diagnostic Evaluation
Management and Prognosis
Cyanotic Heart Defects: Variable Physiology
Single Ventricle Anatomy/Physiology
Hypoplastic Left Heart Syndrome
Anatomy and Pathophysiology
Associated Defects
Clinical Presentation
Diagnostic Evaluation
Management and Prognosis
Double Outlet Right Ventricle
Anatomy and Pathophysiology
Associated Defects
Clinical Presentation
Diagnostic Evaluation
Management and Prognosis
Obstructive Heart Defects
Valvar Aortic Stenosis
Anatomy and Pathophysiology
Associated Defects
Clinical Presentation
Diagnostic Evaluation
Management and Prognosis
Aortic Coarctation and Interrupted Aortic Arch
Anatomy and Pathophysiology
Associated Defects
Clinical Presentation
Diagnostic Evaluation
Management and Prognosis
Serial Obstructive Left Heart Defects
Valvar Pulmonary Stenosis
Anatomy and Pathophysiology
Associated Defects
Clinical Presentation
Diagnostic Evaluation
Management and Prognosis
Shunting Lesions
Ventricular Septal Defect
Anatomy and Pathophysiology
Associated Defects
Clinical Presentation
Diagnostic Evaluation
Management and Prognosis
Atrial Septal Defect
Atrioventricular Septal Defect
Anatomy and Pathophysiology
Associated Defects
Clinical Presentation
Diagnostic Evaluation
Management and Prognosis
Patent Ductus Arteriosus
Anatomy and Pathophysiology
Associated Defects
Clinical Presentation
Diagnostic Evaluation
Management and Prognosis
Aortopulmonary Window
Anatomy and Pathophysiology
Associated Defects
Clinical Presentation
Diagnostic Evaluation
Management and Prognosis
Acknowledgments
Key Points
References
76
76 Cardiovascular Problems of the Neonate
Abstract
Keywords
Cardiac Malposition and Abnormalities of Abdominal Situs
Bodily Arrangement and Situs
Associated Lesions
Arteriovenous Malformations
Diagnosis
Treatment
Myocardial Diseases: Cardiomyopathy and Myocarditis
Diagnosis and Treatment
Pericardial Diseases
Cardiac Tumors
Vascular Rings and Slings
Clinical Presentation and Diagnosis
Treatment
Neonatal Marfan Syndrome
The Premature Baby With Congenital Heart Disease
Palliative Care
Acknowledgments
Key Points
References
77
77 Disorders of Cardiac Rhythm and Conduction in Newborns
Abstract
Keywords
Normal Sinus Rhythm and Sinus Node Dysfunction
Normal Sinus Rhythm and Its Variations
Sinus Bradycardia
Sinus Tachycardia
Sinus Arrhythmia
Tachyarrhythmias
Atrial Tachycardia
Premature Atrial Contractions
Atrial Ectopic Tachycardia
Atrial Flutter
Atrial Fibrillation
Reentrant Supraventricular Tachycardia
Supraventricular Tachycardia Caused by a Manifest Accessory Pathway
Supraventricular Tachycardia Caused by a Concealed Accessory Pathway
Supraventricular Tachycardia Caused by Atrioventricular Nodal Reentry Tachycardia
Supraventricular Tachycardia
Permanent Form of Junctional Reciprocating Tachycardia
Junctional Ectopic Tachycardia
Ventricular Arrhythmias
Premature Ventricular Contractions
Characteristics of Benign Premature Ventricular Contractions
Evaluation
Treatment
Ventricular Tachycardia
Treatment
Toxicities and Depletions
Tachycardia-Induced Cardiomyopathy
Atrioventricular Conduction Disturbances
First-Degree Atrioventricular Block
Second-Degree Atrioventricular Block
Third-Degree Atrioventricular Block
Genetic Arrhythmia Syndromes
Long QT Syndrome
Clinical Presentation
Electrocardiogram Findings and Diagnosis
Treatment
Treatment of Torsades de Pointes
Key Points
References
78
78 Neonatal Management of Congenital Heart Disease
Abstract
Keywords
Introduction
Cyanotic Congenital Heart Conditions
Procedures to Increase Pulmonary Blood Flow
Balloon Pulmonary Valvuloplasty
Pulmonary Valve Perforation With Balloon Pulmonary Valvuloplasty
Right Ventricular Outflow Tract Stenting
Surgical Opening of the Right Ventricular Outflow Tract
Implantation of a Stent in the Ductus Arteriosus
Systemic to Pulmonary Artery Shunts
Procedures to Decrease Pulmonary Blood Flow
Pulmonary Artery Banding
Procedures to Increase Mixing of Systemic and Pulmonary Venous Blood
Balloon Atrial Septostomy
Other Atrial Septostomy Techniques
Static Balloon Septoplasty
Blade Atrial Septostomy
Atrial Septal Stenting
Atrial Septectomy
Acyanotic Congenital Heart Conditions
Left-Sided Obstruction
Balloon Aortic Valvuloplasty
Surgical Aortic Valve Repair or Replacement
Coarctation of the Aorta
Surgical Repair of Coarctation
Transcatheter Treatment of Coarctation
Pulmonary Artery Stenosis
Treatment of Patent Ductus Arteriosus
Miscellaneous Procedures
Pulmonary Vein Stenosis
Surgical Repair of Total Anomalous Pulmonary Venous Return
Central Line Placement
Pericardiocentesis
Fetal Cardiac Intervention
Hybrid Stage I Palliation
Shunt Obstruction
Neonatal Heart Transplantation
Medical Management
Prostaglandin E1
Oxygen and Ventilation
Blood Products
Preload
Afterload
Contractility
Treatment of Hypercyanotic Spells
What the Future Holds
Key Points
References
79
79 Hematologic and Oncologic Problems in the Fetus and Neonate
Abstract
Keywords
Human Hematopoietic Development
Hematopoietic Stem Cells
Regulation of Hematopoiesis
Red Blood Cells
Hemoglobin and Oxygen-Carrying Capacity
Hemoglobin Switching
Erythropoietin, Erythropoiesis, and the Physiologic Anemia of Infancy
Red Blood Cell Indices during Prenatal and Postnatal Development
Red Blood Cell Survival
Red Blood Cell Disorders
Anemia
Evaluation of Anemia
Rationale for Transfusion Therapy
Anemia Caused by Blood Loss
Fetal–Maternal Hemorrhage
Twin–Twin Transfusion Syndrome
Hemolytic Anemia: Accelerated Red Blood Cell Destruction
Immune Hemolytic Anemia
Alloimmune Hemolytic Anemia
Rh Hemolytic Disease.
ABO Hemolytic Disease.
Minor Blood Group Hemolytic Diseases.
Natural History of Hemolytic Diseases of the Newborn.
Other Immune Hemolytic Anemias
Nonimmune Hemolytic Anemia
Erythrocyte Structural Defects
Hereditary Spherocytosis.
Hereditary Elliptocytosis and Hereditary Pyropoikilocytosis.
Membrane Lipid Defects
Inherited Enzymatic Defects
Vitamin E Deficiency
The Thalassemias
α-Thalassemia
β-Thalassemia
Hemoglobin E
Qualitative Defects in Hemoglobin: Hemoglobin Variants
Unstable Hemoglobins
Sickle Cell Anemia
Sickle Cell Trait
When to Use Molecular Testing for Patients with Hemoglobin Disorders
Anemia Caused by Inefficient Production of Red Blood Cells
Iron Deficiency Anemia
Iron Transport Proteins and Iron Homeostasis
Iron Metabolism in Erythrocyte Precursors
Physiologic Anemia of Infancy and Physiologic Anemia of Prematurity: The Role of Erythropoietin
Transient Erythroblastopenia of Childhood
Parvovirus-Induced Anemia
Diamond-Blackfan Anemia
Fanconi Anemia
Pearson Syndrome
Congenital Dyserythropoietic Anemias
Other Erythrocyte Disorders
Methemoglobinemia
Polycythemia
White Blood Cells
Number and Kinetics of Phagocytes
Phagocyte Abnormalities
Neutropenia
Extrinsic Defects of Phagocyte Function
Sepsis and Postinfectious Neutropenia.
Neonatal Alloimmune Neutropenia.
Autoimmune Neutropenia of Infancy (Chronic Benign Neutropenia).
Neonatal Iso-immune Neutropenia.
Drug-Induced Neutropenia.
Therapeutic Uses of Granulocyte Colony-Stimulating Factor and Granulocyte-Macrophage Colony-Stimulating Factor
Inherited Disorders Associated with Neutropenia
Congenital Neutropenias
Congenital Neutropenia with Primarily Hematopoietic Abnormalities
Severe Congenital Neutropenia.
Cyclic Neutropenia and ELA2 Mutations.
Congenital Neutropenia with Extrahematopoietic Abnormalities
Shwachman-Diamond Syndrome (SDS).
Glucose-6-Phosphatase Complex Disorders: Glycogen Storage Disease Type 1b and G6PC3.
Congenital Neutropenia with Defective Immune System
X-linked Neutropenia/Myelodysplasia
Cartilage-Hair Hypoplasia.
Dyskeratosis Congenita.
Other Related Syndromes Discussed under Immune Deficiencies
Bone Marrow Failure Syndromes
Congenital Neutropenia with Inborn Errors of Metabolism
Neutrophilia
Leukemoid Reaction
Down Syndrome Hematologic Abnormalities and Transient Abnormal Myelopoiesis.
Neutrophil Functional Defects
Oxidative Killing Disorder: Chronic Granulomatous Disease.
Adhesion Disorders: Leukocyte Adhesion Deficiencies Types I and II.
Chediak-Higashi Syndrome and Griscelli Syndrome Type 2
Neonatal Immune Deficiencies
Humoral Immune Defects
Transient Hypogammaglobulinemia of Infancy.
X-linked Agammaglobulinemia.
Hyper IgM syndrome.
Combined Immune Deficiencies
Severe Combined Immunodeficiency (SCID)
Common γ Chain Deficiency (X-linked SCID).
Adenosine Deaminase Deficiency.
Omenn Syndrome (Leaky SCID).
Innate Immune Defects
Wart Hypogammaglobulinemia Immunodeficiency Syndrome
IRAK 4 Mutation
Nonmalignant Disorders of Histiocytes
Dendritic Cell Disorders: Langerhans Cell Histiocytosis
Congenital Self-Healing Reticulohistiocytosis with Spontaneous Regression
Hemophagocytic Lymphohistiocytosis
The Hemostatic System
Overview of Normal Hemostasis
Vitamin K Physiology in Neonates
Developmental Hemostasis in the Neonate
General Approach to Neonatal Bleeding Disorders
Neonatal Platelet Disorders
Neonatal Thrombocytopenia (Quantitative Platelet Disorders)
Neonatal Thrombocytopenic Disorders Requiring Special Attention
Immune-Mediated Thrombocytopenias
Fetal and Neonatal Alloimmune Thrombocytopenia
Autoimmune Thrombocytopenia in Infants Born to Mothers with Immune Thrombocytopenic Purpura
Inherited Thrombocytopenias
Platelet Function Disorders (Qualitative Platelet Disorders)
Management of Platelet Disorders in Neonates
Neonatal Coagulation Disorders
Inherited Coagulation Disorders
Hemophilia
Management during Delivery
Management in the Postnatal Period
Management of Clinically Significant Bleeding in Neonates
von Willebrand Disease
Rare Inherited Coagulation Disorders
Acquired Coagulation Disorders
Vitamin K Deficiency
Disseminated Intravascular Coagulation
Coagulopathy of Acute Liver Disease
Neonatal Thrombotic Disorders
Neonatal Deep Vein Thrombosis of the Upper/Lower Venous System
Neonatal Portal Vein Thrombosis
Neonatal Renal Vein Thrombosis
Neonatal Arterial Thrombosis
Neonatal Stroke
Neonatal Purpura Fulminans
Neonatal Antithrombotic Therapy
Anticoagulants
Thrombolytics
Neoplasms in the Neonate
Infant Cancer
Neuroblastoma
Leukemia
Infant Acute Lymphocytic Leukemia
Infant Acute Myelogenous Leukemia
Juvenile Myelomonocytic Leukemia
Teratomas and Other Germ Cell Tumors
Soft Tissue Sarcomas
Rhabdomyosarcoma
Infantile Fibrosarcoma
Neonatal Brain Tumors
Acknowledgments
Key Points
References
80
80 Blood Component Therapy for the Neonate
Abstract
Keywords
Special Considerations for Transfusion Therapy in the Neonate
Risks of Transfusion Therapy
Metabolic Complications
Hypoglycemia
Hyperkalemia
Hypocalcemia
Effect of Plasticizers (See Also Chapter 14)
Immunologic Complications
Transfusion Reactions
Hemolytic Transfusion Reactions
Febrile Nonhemolytic Transfusion Reactions
Allergic Transfusion Reactions
Transfusion-Associated Graft-Versus-Host Disease
Transfusion-Related Acute Lung Injury
T-Antigen Activation
Transfusion-Associated Dyspnea (TAD)
Transfusion-Related Sepsis
Transfusion-Related Necrotizing Enterocolitis (NEC)
Transfusion-Related Intraventricular Hemorrhage (See Also Chapter 53)
Infectious Complications
Cytomegalovirus Infection
Hepatitis A Virus
Hepatitis B Virus
Hepatitis C Virus
HIV-1 and HIV-2
West Nile Virus
Zika Virus
Emerging Pathogens
Pathogen Reduction
INTERCEPT® and Mirasol® Systems
Donor-Specific Units
Autologous Red Blood Cell Transfusions
Delayed Cord Clamping and Cord Stripping
Parental Blood Donation
Blood Products
Red Blood Cell Transfusion
Pretransfusion Testing
Red Blood Cell Preparations
Red Blood Cell Dose and Administration
Platelet Transfusion
Indications
Pretransfusion Testing
Component Definition and Dosing
Granulocyte Transfusion
Fresh Frozen Plasma Transfusion
Cryoprecipitate Transfusion
Factor Concentrates
Special Topics in Neonatal Transfusion
Exchange Transfusion
Indications
Choice of Blood Components
Partial Exchange Transfusion
Extracorporeal Membrane Oxygenation
Management of ECMO Patients Using Factor Concentrates (e.g., Antithrombin III)
Therapeutic Hypothermia
Future Directions
Key Points
References
81
81 Development of the Neonatal Gastrointestinal Tract
Abstract
Keywords
The Beginning
Esophagus
Stomach
Duodenum, Pancreas, and Biliary System
Small Intestine
Colon, Rectum, and Anus
Acknowledgments
Key Points
References
82
82 Gastrointestinal Reflux and Motility in the Neonate
Abstract
Keywords
Definitions
Physiology of Gastroesophageal Reflux
Upper Gastrointestinal Motility and Physiologic Gastroesophageal Reflux
Gastroesophageal Reflux Disease
Symptoms and Complications
Diagnostic Tools
Treatment
Conservative Nonpharmacologic Management
Drugs That Increase Gastric pH
Histamine-2 Receptor Antagonists
Proton Pump Inhibitors
Drugs to Improve Motility
Metoclopramide
Erythromycin
Fundoplication
Summary
Key Points
References
83
83 Disorders of Digestion in the Neonate
Abstract
Keywords
Disorders of Carbohydrate Absorption
Disaccharidase Deficiencies
Congenital Sucrase-Isomaltase Deficiency
Etiology
Clinical Features
Diagnosis and Treatment
Congenital Lactase Deficiency
Etiology
Clinical Features
Diagnosis and Treatment
Maltase-Glucoamylase Deficiency
Clinical Features
Diagnosis and Treatment
Transport Defects
Glucose–Galactose Malabsorption
Etiology
Clinical Features
Diagnosis and Treatment
Fat Malabsorption
Pancreatic Insufficiency
Cystic Fibrosis
Etiology
Clinical Features
Diagnosis and Treatment
Management
Shwachman-Diamond Syndrome
Etiology
Clinical Features
Diagnosis and Treatment
Johanson-Blizzard Syndrome
Etiology
Clinical Features
Diagnosis
Miscellaneous Causes of Pancreatic Insufficiency
Defective Handling of Bile Acids
Primary Bile Acid Malabsorption
Etiology
Clinical Features
Diagnosis and Treatment
Defective Mucosal Lipid Handling
Primary Intestinal Lymphangiectasia (Waldmann Disease)
Etiology
Clinical Findings
Diagnosis and Treatment
DGAT1-Associated Congenital Diarrhea
Etiology
Clinical Manifestations, Diagnosis, and Treatment
Other Causes of Protein-Losing Enteropathy
Hypobetalipoproteinemia and Abetalipoproteinemia
Etiology
Clinical Presentation
Diagnosis and Treatment
Chylomicron Retention Disease
Etiology
Clinical Manifestations
Diagnosis and Treatment
Disorders of Protein Absorption
Primary Intestinal Enteropeptidase Deficiency
Etiology
Clinical Features
Diagnosis and Treatment
Hartnup Disease
Etiology
Clinical Features
Diagnosis and Treatment
Lysinuric Protein Intolerance
Disorders of Electrolyte Absorption
Congenital Chloride Diarrhea
Congenital Sodium Diarrhea
Disordered Villous Architecture
Microvillus Inclusion Disease
Tufting Enteropathy
Acrodermatitis Enteropathica
Trichohepatoenteric Syndrome (Phenotypic or Syndromic Diarrhea)
Autoimmune Enteropathy
IPEX Syndrome
Infectious Enteropathy
Allergic Colitis or Eosinophilic Proctocolitis
Food Protein-Induced Enterocolitis Syndrome
Other Causes of Infantile Diarrhea
Motility Disorders and Small Intestinal Bacterial Overgrowth
Neurogenin-3 Mutation in Malabsorptive Diarrhea
Mevalonate Kinase Deficiency Manifesting as Severe Colitis in Neonates
Intestinal Failure
Key Points
References
84
84 Selected Gastrointestinal Anomalies in the Neonate
Abstract
Keywords
Thoracic Anomalies
Esophageal Atresia and Tracheoesophageal Fistula
Esophageal Duplications
Congenital Diaphragmatic Hernia
Abdominal Wall Defects
Gastric Volvulus
Microgastria
Gastric Perforation
Lactobezoars
Pyloric Atresia
Hypertrophic Pyloric Stenosis
Duodenal Atresia and Stenosis
Gastrointestinal Duplications
Malrotation and Midgut Volvulus
Meconium Syndromes
Meconium Ileus
Meconium Peritonitis
Meconium Plug Syndrome
Jejunoileal Atresia and Stenosis
Hirschsprung Disease
Anorectal Anomalies
Acknowledgments
Key Points
References
85
85 Neonatal Necrotizing Enterocolitis
Abstract
Keywords
Summary
Definition of NEC
Epidemiology
Clinical Features
Presentation
Diagnosis
Treatment
Medical Management
Surgical Management
Outcomes
Pathophysiology of Necrotizing Enterocolitis
Altered Host Defense
Dysbiosis
Enteral Feedings
Role of Breast Milk
Role of Blood Transfusions
Preventive Strategies
Key Points
References
86
86 Disorders of Carbohydrate Metabolism in the Neonate
Abstract
Keywords
Placental Transport of Nutrients: Maternal–Fetal Relationship
Glucose
Fatty Acids
Amino Acids
Other Fetal Substrates
Glycerol
Lactate
Fetal Hormones Mediating Growth
Fetal Glucose Metabolism
Glucose Metabolism After Birth
Measurement of Glucose
Hypoglycemia
Transient Hypoglycemia Caused by Changes in Maternal Metabolism
Intrapartum Glucose Administration
Maternal Pharmacologic Treatment
Diabetes in Pregnancy: The Infant of a Diabetic Mother
Clinical Manifestations
Macrosomia.
Congenital Anomalies.
Hypoglycemia.
Hypocalcemia and Hypomagnesemia.
Septal Hypertrophy of the Heart.
Management of the Diabetic Mother
Prognosis
Transient Hypoglycemia Associated With Neonatal Problems
Idiopathic Condition or Failure to Adapt
Maternal Obesity
Intrauterine Growth Restriction and Infants Who Are Small for Gestational Age
Hepatic Glucose-6-Phosphatase and Prematurity
Neonatal Encephalopathy
Infection
Hypothermia
Hematologic Disorders
Iatrogenic Causes
Congenital Cardiac Malformations
Persistent or Recurrent Hypoglycemia
Hyperinsulinism
Congenital Hyperinsulinism (CHI)
Beckwith-Wiedemann Syndrome
Endocrine Disorders
Pituitary Insufficiency
Clinical and Laboratory Manifestations.
Pathology.
Pathogenesis.
Treatment.
Cortisol Deficiency
Congenital Glucagon Deficiency
Epinephrine Deficiency
Inborn Errors of Carbohydrate Metabolism
Galactosemia
Hepatic Glycogen Storage Disease
Fructose Intolerance
Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
Management of Neonatal Hypoglycemia
Oral Dextrose Gel
Intravenous Glucose Infusions
Glucagon
Epinephrine
Diazoxide and Chlorothiazide
Somatostatin Analogue: Octreotide
Growth Hormone
Glucocorticoids
Pancreatectomy
Prognosis of Neonatal Hypoglycemia
Hyperglycemia
Diabetes Mellitus in the Newborn
Insulin Therapy in the Baby With Low Birth Weight
Key Points
References
87
87 Disorders of Calcium, Phosphorus, and Magnesium Metabolism in the Neonate
Abstract
Keywords
Calcium, Phosphorus, and Magnesium Physiology
Calcium Physiology
Serum Calcium
Placental Transport
Intestinal Absorption
Renal Excretion
Intake
Phosphorus Physiology
Serum Phosphorus
Placental Transport
Intestinal Absorption
Renal Excretion
Intake
Magnesium Physiology
Serum Magnesium
Placental Transport
Intestinal Absorption
Renal Excretion
Intake
Hormonal Regulation of Mineral Metabolism
Parathyroid Hormone
Effects
Regulation of Hormonal Secretion
Fetal Parathyroid Function
Neonatal Parathyroid Function
Parathyroid Hormone Reference Values
Vitamin D
Synthesis and Metabolism
Effects
Regulation of Secretion
Fetal Vitamin D Function
Neonatal Vitamin D Function and Recommendations
Reference Values
Calcitonin
Synthesis and Metabolism
Effects
Fetal Calcitonin Function
Neonatal Calcitonin Function
Bone Development
Ontogenesis
Factors Affecting Growth and Mineralization
Evaluation of Fetal Mineral Accretion
Physiologic Skeletal Changes in the Early Postnatal Period
Term Infants
Very Low Birth Weight Infants
Clinical Conditions Associated With Calcium Disturbances
Neonatal Hypocalcemia
Early Hypocalcemia
Term Infants
Preterm Infants
Maternal Diabetes
Severe Cardiorespiratory Depression at Birth
Late Hypocalcemia
Phosphate Loading
Hypomagnesemia
Neonatal Hypoparathyroidism
Secondary Hypoparathyroidism Related to Maternal Diseases.
Developmental Defects in the Parathyroid Glands.
Defects in the Parathyroid Hormone Molecule.
Defective Regulation of Parathyroid Hormone Secretion.
Hypocalcemia Resulting From Vitamin D Disorder
Infantile Osteopetrosis
Other Causes of Neonatal Hypocalcemia
Clinical Manifestations of Hypocalcemia
Treatment
Early Neonatal Hypocalcemia
Symptomatic Hypocalcemia.
Asymptomatic Hypocalcemia.
Late Neonatal Hypocalcemia
Prevention of Neonatal Hypocalcemia
Neonatal Hypercalcemia
Iatrogenic Hypercalcemia
Congenital Hyperparathyroidism
Secondary Hyperparathyroidism
Primary Hyperparathyroidism
Neonatal Severe Hyperparathyroidism.
Williams Syndrome
Subcutaneous Fat Necrosis
Other Causes of Hypercalcemia
Clinical Manifestations
Treatment
Nephrocalcinosis in Preterm Infants
Clinical Conditions Associated With Magnesium Disturbances
Hypomagnesemia
Etiology
Maternal Diabetes
Intrauterine Growth Restriction
Neonatal Hypoparathyroidism
Inherited Disorders of Renal Magnesium Handling
Primary Hypomagnesemia With Secondary Hypocalcemia.
Infantile Isolated Renal Magnesium Wasting (Dominant).
Infantile Isolated Renal Magnesium Wasting (Recessive).
Hypomagnesemia With Hypercalciuria and Nephrocalcinosis.
Other Causes of Hypomagnesemia
Clinical Manifestations
Treatment
Hypermagnesemia
Etiology
Maternal Treatment With Magnesium Sulfate
Excessive Magnesium Administration
Clinical Manifestations
Treatment
Osteopenia of Prematurity
Etiology
Diagnosis
Clinical Symptoms
Biochemical Features
Hormonal Features
Radiologic Features
Prevention and Treatment
Parenteral Nutrition
Enteral Nutrition
Monitoring Mineral Supplementation
Outcome
Acknowledgments
Key Points
References
88
88 Thyroid Disorders in the Neonate
Abstract
Keywords
Physiologic Action of Thyroid Hormones
Functions of the Thyroid Gland
Neurologic Effects
Basal Metabolic Rate
Protein and Lipid Metabolism
Carbohydrates, Liver Function, Water Balance, and Calcium Metabolism
Growth and Skeletal Development
Synthesis, Release, Transport, and Use of Thyroid Hormones
Iodine Metabolism
Synthesis of Triiodothyronine and Thyroxine
Secretion of Triiodothyronine and Thyroxine
Serum Protein Binding and Transport
Monodeiodination of Thyroxine
Regulation of Thyroid Function
Laboratory and Imaging Tests Used in the Diagnosis of Thyroid Disease in Infancy and Childhood
Thyroxine (T4)
Triiodothyronine
Reverse Triiodothyronine
Free Hormones
Proteins That Bind to Thyroid Hormones
Thyrotropin
am to pm Thyroid-Stimulating Hormone Ratio, Thyroid-Stimulating Hormone Surge Test
Thyroid Autoantibodies
Thyroglobulin
Thyroid Imaging
Embryogenesis
Thyroid Function: Fetal–Maternal Relationship
Congenital Hypothyroidism
Etiology and Pathogenesis
Defective Embryogenesis of the Thyroid
Familial Dyshormonogenesis
Defects in TSH or Thyroid Hormone Action
Iodine Deficiency
Central Hypothyroidism
Diagnosis of Congenital Hypothyroidism
Neonatal Screening for Hypothyroidism
Clinical Manifestations
Laboratory Manifestations
Interpretation of Scanning Results
Differential Diagnosis
Transient Disorders of Thyroid Function
Euthyroid Sick Syndrome
Treatment of Hypothyroidism
Prognosis for Congenital Hypothyroidism
Neonatal Graves Disease
Etiology and Pathogenesis
Clinical Manifestations
Diagnosis and Differential Diagnosis
Treatment
Prognosis
Familial Abnormalities of Thyroxine-Binding Proteins
Thyroxine-Binding Globulin (TBG) Defects
Increased Transthyretin (TTR)
Familial Dysalbuminemic Hyperthyroxinemia
Key Points
References
89
89 Disorders of Sex Development
Abstract
Keywords
Fetal Sexual Determination and Differentiation
Genetic Control of Fetal Gonadal Determination and Differentiation
Sex Chromosomes and Role of the SRY Gene
Autosomal and X-Linked Genes
Embryology and Endocrinology
Development of the Gonads
Testicular Differentiation
Ovarian Differentiation
Development of the Genital Ducts
Development of the External Genitalia
Hormonal Control of Fetal Sex Differentiation
Fetal Gonadal Endocrine Function
Control of Genital Differentiation: Roles of Anti-Müllerian Hormone and Testosterone
A Clinical Approach to the Infant With Suspected Disorder of Sex Development
Clinical Indications for Evaluation for a Possible Disorder of Sex Development
Medical History
Physical Examination
Delivery Room or Nursery Examination of All Newborns
Gonadal Descent and Size
Penis Size
Clitoris Size
Urethral Opening
Vaginal Opening
Labioscrotal Development
Associated Dysmorphology
Discussion With Family and Professional Staff
Initial Diagnostic Evaluation
Chromosomes
Biochemistry
Ultrasonography
Genitography
Human Chorionic Gonadotropin Stimulation Test
Refining the Diagnosis
Gender Assignment in Newborns
Nomenclature of Disorders of Sex Development
Disorders of Sex Development
Sex Chromosome Disorder of Sex Development
45,X (Turner Syndrome and Variants)
47,XXY (Klinefelter Syndrome and Variants)
45,X/46,XY (Mixed Gonadal Dysgenesis)
46,XX/46,XY (Chimerism)
Ovotesticular Disorder of Sex Development
46,XY Disorder of Sex Development
Disorders of Gonadal (Testicular) Development
Complete and Partial Gonadal Dysgenesis
Mutation and Deletion of WT1: Denys-Drash, Fraser, and WAGR Syndromes.
Mutation of SOX9 (SRY-Like HMG Box-Related Gene 9).
Duplication of Dosage-Sensitive Sex Reversal.
Steroidogenic Factor-1.
46,XY Ovotesticular Disorder of Sex Development
Gonadal Regression
Early Regression With Genital Ambiguity (XY Gonadal Agenesis).
Late Regression: Congenital Anorchia (Vanishing Testes Syndrome).
Disorders of Androgen Synthesis or Action
Androgen Biosynthesis Defect
Congenital Lipoid Adrenal Hyperplasia (StAR [Steroidogenic Acute Regulatory] Protein/P450scc Deficiencies).
P450 Oxidoreductase Deficiency.
17α-Hydroxylase and 17,20-Lyase Deficiency.
3β-Hydroxysteroid Dehydrogenase Deficiency.
17β-Hydroxysteroid Dehydrogenase Deficiency.
5α-Reductase Deficiency.
Leydig Cell Hypoplasia.
Defect in Androgen Action
Androgen Insensitivity Syndromes.
Complete Androgen Insensitivity Syndrome.
Partial Androgen Insensitivity Syndrome.
Other
Disorders of Anti-Müllerian Hormone and Anti-Müllerian Hormone Receptor (Persistent Müllerian Duct Syndrome)
Common Male Genital Abnormalities in Small-for-Gestational-Age Newborns
Environmental Influences: Endocrine-Disrupting Chemicals
46,XX Disorders of Sex Development
Disorders of Gonadal (Ovarian) Development
Gonadal Dysgenesis
46,XX Ovotesticular Disorder of Sex Development
Testicular Disorder of Sex Development (46,XX Male)
Androgen Excess
Congenital Adrenal Hyperplasia
21-Hydroxylase Deficiency.
Simple Virilizing Form.
Salt-Wasting Form.
Hormonal Abnormalities.
Diagnosis.
Newborn Screening.
Ultrasonography.
Treatment.
Gender Assignment.
Genetics.
Prenatal Diagnosis and Treatment.
11β-Hydroxylase Deficiency (Hypertensive Congenital Adrenal Hyperplasia).
3β-Hydroxysteroid Dehydrogenase Deficiency.
P450 Oxidoreductase Deficiency.
Placental Aromatase (CYP19) Deficiency
Maternally Derived Androgenic Substances
Other
Dysgenesis of External Genital Primordia
Müllerian and Vaginal Dysgenesis
Common Presenting Problems
Hypospadias
Micropenis
Cryptorchidism
Clitoromegaly
Acknowledgments
Key Points
Resources for Families
References
90
90 Inborn Errors of Metabolism
Abstract
Keywords
Common Misconceptions
Misconception 1
Misconception 2
Misconception 3
Misconception 4
Misconception 5
Misconception 6
Misconception 7
Misconception 8
Prospective Approaches
The Newborn Infant at High Risk for a Particular Metabolic Disorder
Newborn Screening Programs
Principles of Screening Programs
Screening Techniques
Screening for Disorders
Handling Test Results
Effect of Screening Programs
Screening for Specific Disorders
Biotinidase Deficiency
Galactosemia
Homocystinuria
Medium-Chain Acyl-CoA Dehydrogenase Deficiency
Phenylketonuria
The Abnormal Newborn Infant: Clinical Phenotypes
Prenatal Onset
Maternal Diseases Affecting the Fetus
Fetal Diseases Affecting the Mother
Fetal Diseases Affecting the Fetus
Central Nervous System Disease
Metabolic Encephalopathy
Metabolic Seizures
Treatable Disorders
Folinic Acid–Responsive Seizures.
Glucose Transporter Type 1 Deficiency.
Pyridoxine-Dependent Epilepsy.
Pyridoxal 5′-Phosphate–Dependent Epilepsy.
Potentially Treatable Disorders
Congenital Glutamine Synthetase Deficiency.
Menkes Disease.
Nonketotic Hyperglycinemia.
Serine Biosynthesis Defects.
Sulfite Oxidase Deficiency/Molybdenum Cofactor Deficiency.
Untreatable Disorders
Adenosylsuccinate Lyase Deficiency.
Congenital Disorders of Glycosylation.
Congenital Neuronal Ceroid Lipofuscinosis.
Dihydropyrimidine Dehydrogenase Deficiency.
Gamma-Aminobutyric Acid Disorders.
Mitochondrial Glutamate Transporter.
Peroxisomal Disorders.
Cardiomyopathy
Congenital Disorders of Glycosylation
Fatty Acid β-Oxidation Disorders
Glycogen Storage Disorders
Lysosomal Storage Disorders
Mitochondrial Disorders
Eye Anomalies
Gastrointestinal Abnormalities
Hepatic Dysfunction
Amino Acid Defects
Tyrosinemia Type I.
Citrin Deficiency.
Bile Acid Biosynthesis Defects
Carbohydrate Disorders
Congenital Disorders of Glycosylation
Fatty Acid Oxidation Defects
Lysosomal Storage Disorders
Mitochondrial Disorders
Peroxisomal Disorders
Hepatomegaly and Splenomegaly
Hair and Skin Abnormalities
Hematologic Abnormalities
Sepsis
Unusual Odor
Dysmorphic Syndromes
Cholesterol Biosynthesis
Congenital Disorders of Glycosylation
Lysosomal Storage Diseases
Organic Acidurias
Mevalonate Kinase Deficiency
Multiple Acyl-CoA Dehydrogenase Deficiency
Peroxisomal Disorders
Biogenesis Disorders
Single-Enzyme Defects
Other Disorders
Vitamin K Metabolism
The Abnormal Newborn Infant: Laboratory Phenotypes
Biochemical Testing
Screening Studies
Blood Studies
Urine Studies
Cerebrospinal Fluid Studies
Specialized Biochemical Testing
Amino Acid Analysis
Carnitine Analysis
Lactate and Pyruvate Analysis
Urine Organic Acid Analysis
Tests for Congenital Disorders of Glycosylation
Tests for Lysosomal Storage Disorders
Tests for Peroxisomal Disorders
Definitive Biochemical Diagnosis
Genetic Testing
Postmortem Evaluation
Approaches to Specific Abnormal Laboratory Findings
Disorders Characterized by the Absence of Metabolic Acidosis, Lactic Acidemia, Hypoglycemia, and Hyperammonemia
Maple Syrup Urine Disease
Metabolic Acidosis
Differential Diagnosis
Renal Tubular Defects
Disorders of Ketone Metabolism
Defects of Ketogenesis.
Defects of Ketolysis.
Organic Acidemias
Defects in Branched-Chain Amino Acid Metabolism.
Multiple Carboxylase Deficiency.
Multiple Acyl-CoA Dehydrogenase Deficiency.
Other.
Management.
Lactic Acidemia
Differential Diagnosis
Primary Lactic Acidemias
Pyruvate Dehydrogenase Complex Deficiency
Krebs Cycle Defects
Mitochondrial Disorders
Hypoglycemia
Differential Diagnosis
Gluconeogenesis Defects
Glycogen Storage Disorders
Organic Acidemias
Fatty Acid Oxidation Disorders
Hyperammonemia
Differential Diagnosis
Urea Cycle Disorders
Secondary Hyperammonemias
Treatment
Treatment at the Metabolite Level
Treatment at the Protein Level
Treatment by Transplantation
Treatment at the Genetic Level
Conclusion
Key Points
References
91
91 Neonatal Jaundice and Liver Diseases
Abstract
Keywords
Bilirubin Metabolism
Bilirubin Biochemistry
Overview
Heme Degradation
Bilirubin Production
Transport of Bilirubin in Plasma
“Conjugated” versus “Direct” Bilirubin
Hepatic Uptake of Bilirubin
Equilibrium Between Bilirubin Production and Elimination Processes—The Major Determinant of TB Levels
Conjugation of Bilirubin
Excretion of Bilirubin
Enterohepatic Absorption of Bilirubin
Genetic Control of Bilirubin Production
Heme Oxygenase-1
The HO-1 Gene and Its Promoter Polymorphisms
Genetic Control of Uptake of Bilirubin into the Hepatocyte
Genetics of Diminished Bilirubin Conjugation
The UGT Gene
Co-expression of Genes Modulating the Risk of Neonatal Hyperbilirubinemia
Nonpathologic Unconjugated Hyperbilirubinemia
Fetal Bilirubin
Neonatal Hyperbilirubinemia
Term Neonate
Preterm Neonate
Late Preterm Neonate
Early-Term Neonate
Term Infant
Post-Term Neonate
Genetic, Ethnic, and Cultural Effects
Pathologic Unconjugated Hyperbilirubinemia
Causes of Unconjugated Hyperbilirubinemia
Disorders of Bilirubin Production
Isoimmunization
Rh Disease.
ABO Heterospecificity.
Isoimmunization Caused by Antibodies Other Than RhD.
Nonimmune Hemolysis
Erythrocyte Enzymatic Defects.
G6PD Deficiency.
Function of G6PD.
Genetics of G6PD Deficiency.
G6PD Deficiency and Hemolysis.
Testing and Screening for G6PD Deficiency.
Pyruvate Kinase Deficiency.
Erythrocyte Structural Defects.
Hereditary Spherocytosis.
Hereditary Elliptocytosis, Hereditary Pyropoikilocytosis, Hereditary Ovalocytosis, and Hereditary Stomatocytosis.
Blood Transfusion.
Infection.
Sequestration.
Polycythemia.
Disorders of Hepatic Uptake and Conjugation
Crigler-Najjar Syndrome Type I
Crigler-Najjar Syndrome Type II
Transient Familial Neonatal Hyperbilirubinemia (Lucey-Driscoll Syndrome)
Pyloric Stenosis
Hypothyroidism
Disorders of Excretion
Disorders of Enterohepatic Circulation
Jaundice Associated with Breastfeeding.
Breastfeeding Failure Jaundice.
Breast Milk Jaundice.
Sequelae of Unconjugated Hyperbilirubinemia
Epidemiology of Kernicterus and Extreme Hyperbilirubinemia
Did Kernicterus Really Disappear and Then Resurface?
How Frequent Is Kernicterus?
Kernicterus in Developing Countries
Surrogates for Assessing the Incidence of Kernicterus: Extreme Hyperbilirubinemia and Readmission
Transient Encephalopathy or Acute Bilirubin Encephalopathy (ABE)
Kernicterus
Kernicterus in Preterm Infants and Low-Bilirubin Kernicterus
Bilirubin Entry into the Brain
Bilirubin-Induced Neurologic Dysfunction (BIND)
Diagnosis of Unconjugated Hyperbilirubinemia
Total Bilirubin (TB) Measurements
Transcutaneous (TcB) Bilirubinometry
End-Tidal Carbon Monoxide (ETCO) Measurements
Bilirubin-to-Albumin Molar Ratio (BAMR)
Newer Methods of Diagnosis
Therapy for Unconjugated Hyperbilirubinemia
Indications for Therapy
Phototherapy
Mechanism of Action
Technique
Indications
Aggressive versus Conservative Phototherapy in Premature Infants
Complications
Pharmacologic Therapy
Phenobarbital
Metalloporphyrins
Other Nonmetalloporphyrin Inhibitors
Miscellaneous Agents
Intravenous Immunoglobulin
Exchange Transfusion
Objectives
Indications
Technique
Complications
Individualization of Therapeutic Guidelines
Prediction of Hyperbilirubinemia and Postdischarge Follow-up
Hyperbilirubinemia in Resource-Limited Countries
Conjugated Hyperbilirubinemia
Causes of Conjugated Hyperbilirubinemia
Treatment of Neonatal Hepatitis
Treatment of Extrahepatic Biliary Atresia
Known Infectious Causes
Sepsis
Hepatic Metabolic Disease
Total Parenteral Nutrition–Induced Hepatic Injury
Mechanical Obstruction
Inspissated Bile (Bile Plug) Syndrome
Choledocholithiasis
Cystic Diseases
Masses
Miscellaneous Causes of Conjugated Hyperbilirubinemia
Key Points
References
92
92 Fluid, Electrolytes, and Acid-Base Homeostasis
Abstract
Keywords
Fluid and Electrolyte Management
Body Fluid Composition in Fetuses and Newborns
Sodium Balance in Newborns
Water Balance in Newborns
Calculation of Fluid and Electrolyte Requirements
Maintenance Fluids and Electrolytes
Insensible Losses
Other Fluid Losses
Electrolyte Requirements
Pathogenic Losses and Deficit Replacement
Fluid and Electrolyte Balance
Hyponatremia and Hypernatremia
Hyponatremia
Hypernatremia
Fluid and Electrolyte Therapy in Common Neonatal Conditions
Perinatal Asphyxia
Hyperbilirubinemia
Symptomatic Patent Ductus Arteriosus
Bronchopulmonary Dysplasia
Acid–Base Management
Acid-Base Homeostasis in Neonates
Acute Compensation: Body Buffer Systems
Long-Term Maintenance of Acid–Base Balance
Developmental Aspects of Acid–Base Physiology
Diagnostic Approach to Disorders of Acid–Base Balance
Basic Principles of Therapy
Metabolic Acidosis
Metabolic Alkalosis
Respiratory Acidosis and Alkalosis
Specific Acid–Base Disorders That May Manifest in the Neonatal Period
Renal Tubular Acidosis
Neonatal Bartter Syndrome
Key Points
References
93
93 The Kidney and Urinary Tract of the Neonate
Abstract
Keywords
Kidney and Urinary Tract Development
Development of the Kidney
Development of the Bladder and Urethra
Genetic and Prenatal Factors Affecting Renal Development
Physiology of the Developing Kidney
Renal Blood Flow
Glomerular Filtration
Concentration and Dilution of Urine
Evaluation of the Neonate With Renal Disease
History
Physical Examination
Laboratory Evaluation
Urinalysis
Assessment of Renal Function
Radiologic Evaluation
Clinical Problems
Hematuria
Proteinuria
Glycosuria
Acute Kidney Injury
Prerenal Azotemia
Intrinsic (Renal) Acute Kidney Injury
Obstructive (Postrenal) Acute Kidney Injury
Evaluation
Prevention of AKI
Medical Management
Renal Replacement Therapy
Prognosis
Hypertension
Incidence and Definition
Causes
Clinical Presentation
Evaluation
Treatment
Prognosis
Nephrocalcinosis
Renal Vascular Thrombosis
Congenital Anomalies of Kidneys and Urinary Tract
Renal Agenesis
Renal Dysplasia
Multicystic Dysplastic Kidney
Hydronephrosis
Physiologic Hydronephrosis
Ureteropelvic Junction Obstruction
Ureterovesical Junction Obstruction
Vesicoureteral Reflux
Posterior Urethral Valves
Eagle-Barrett Syndrome
Bladder Exstrophy-Epispadias Complex
Management of Antenatal Hydronephrosis
Oligohydramnios of Renal Origin
Inherited Renal Disorders
Congenital Nephrotic Syndrome
Polycystic Kidney Disease
Neonatal Bartter Syndrome
Renal Tubular Acidosis
Tumors of the Kidney
Key Points
References
94
94 The Skin of the Neonate
Abstract
Keywords
The Structural Biology of Fetal and Neonatal Skin
Development of the Epidermis
Development of the Appendages
Vernix Biology
Development of the Dermis
Blood and Lymphatic Vessel Development
Development of Cutaneous Innervation
Disorders and Diseases of Fetal and Neonatal Skin
Transient Cutaneous Lesions
Sebaceous Gland Hyperplasia and Milia
Pigmentary Lesions
Nevus Simplex or Salmon Patch
Harlequin Color Change
Erythema Toxicum
Transient Neonatal Pustular Melanosis
Miliaria
Neonatal Acne and Infantile Acne
Infantile Acropustulosis
Disorders of Cornification: The Scaly Baby
Physiologic Desquamation and Dysmaturity
Ichthyoses
X-Linked Ichthyosis
Harlequin Ichthyosis
Collodion Baby
Management of Ichthyosis
Future Prospects
Vesicobullous Eruptions
Sepsis
Staphylococcal Infection and Impetigo
Staphylococcal Scalded Skin Syndrome
Streptococcal Infection
Miscellaneous Bacterial and Spirochete Infections
Viral Lesions
Candidiasis
Hereditary Blistering Diseases
Epidermolysis Bullosa
Incontinentia Pigmenti
Zinc Deficiency
Pigmentary Abnormalities
Diffuse Hyperpigmentation
Localized Hyperpigmentation
Cafe au Lait Macules
McCune-Albright Syndrome
Congenital Melanocytic Nevi
Large Congenital Melanocytic Nevi
Peutz-Jeghers Syndrome
Xeroderma Pigmentosum
Postinflammatory Hyperpigmentation
Blue Nevus
Hypopigmentation
Albinism
Partial Albinism (Piebaldism)
Phenylketonuria
Chédiak-Higashi Syndrome
Waardenburg Syndrome
Nevus Anemicus
Nevus Achromicus
White Macules in Tuberous Sclerosis
Vascular Anomalies: Vascular Malformations and Vascular Tumors
Simple Malformations: Capillary
Simple Malformations: Venous and Common Associated Syndromes
Malformations: Lymphatic
Simple Malformations: Arteriovenous
Vascular Tumors: Hemangiomas
Epidermal Nevi
Inflammatory Diseases of the Skin
Irritant Contact Dermatitis
Seborrheic Dermatitis
Atopic Dermatitis
Subcutaneous and Infiltrative Dermatoses
Juvenile Xanthogranuloma
Mastocytosis
Langerhans Cell Histiocytosis
Sclerema Neonatorum, Scleredema, and Subcutaneous Fat Necrosis
Miscellaneous Congenital Diseases Affecting the Skin
Aplasia Cutis Congenita
Cutis Laxa
Ehlers-Danlos Syndrome
Ectodermal Dysplasias
Porphyrias
Neonatal Lupus Erythematosus
Principles of Newborn Skin Care
Key Points
References
95
95 Examination and Common Problems in the Neonatal Eye
Abstract
Keywords
Neonatal Eye Examination
Normal Ocular Findings
Prematurity
Requesting Ophthalmologic Consultations
Orbital Abnormalities
Proptosis
Hyperthyroid Exophthalmos
Enophthalmos
Ocular Hypotelorism or Hypertelorism
Eyelid Abnormalities
Colobomas
Congenital Blepharophimosis
Epicanthus
Congenital Ectropion, Entropion, and Epiblepharon
Blepharoptosis
Ankyloblepharon
Eyelid Lesions
Nevi
Dermoid Cysts
Hemangioma
Eyelash Abnormalities
Hypertrichosis
Lacrimal Abnormalities
Watery Eye
Dacryocystocele
Dry Eye
Globe Abnormalities
Anophthalmia
Cryptophthalmia
Microphthalmia
Large Eye
Scleral Abnormalities
Corneal Abnormalities
Cloudy Cornea
Enlarged Cornea
Anterior Segment Dysgenesis Syndromes
Corneal Dystrophies
Corneal Manifestations of Systemic Disease
Congenital Glaucoma
Iris Abnormalities
Aniridia
Coloboma
Persistent Pupillary Membrane
Iris Heterochromia
Abnormal Red Reflex
Lens Abnormalities
Cataract
Subluxed Lens
Retina and Vitreus Diseases
Retinal Dysplasia
Norrie Disease
X-Linked Juvenile Retinoschisis
Leber Congenital Amaurosis (LCA)
Albinism
Abnormal Macula
Congenital Disc Anomalies
Optic Nerve Hypoplasia
Optic Disc Atrophy
Segmental Optic Nerve Hypoplasia
Megalopapilla
Morning Glory Disc Anomaly
Optic Disc and Choroidal Coloboma
Optic Disc Pit
Optic Disc Drusen
Hyaloid System Remnants
Myelinated Nerve Fibers
Intraocular Tumors
Retinoblastoma
Astrocytic Hamartoma
Racemose Hemangioma
Neuromuscular Abnormalities
Strabismus
Nystagmus
Opsoclonus
Amblyopia
The Blind Infant
Eye Findings in Chromosomal Syndromes
Trisomy 21
Trisomy 13
Trisomy 18
11p Abnormalities
13q Abnormalities
Turner Syndrome
Eye Findings in Craniofacial Syndromes
Craniosynostosis Syndromes
Hemifacial Microsomia
Terminal Transverse Defects With Orofacial Malformations and Oromandibular-Limb Hypogenesis
Pierre Robin Sequence
Waardenburg Syndrome
Cornelia de Lange Syndrome
CHARGE Association
Deformation Syndromes
Eye Findings in Neurocutaneous Disorders (Phakomatoses)
Neurofibromatosis
Encephalofacial Angiomatosis (Sturge-Weber Syndrome)
Tuberous Sclerosis (Bourneville Disease)
Ocular Trauma
Birth Trauma
Shaken Baby Syndrome
Neonatal Ocular Infections
Neonatal Conjunctivitis (Ophthalmia Neonatorum)
Ocular Manifestations of Intrauterine Infections
Preseptal and Orbital Cellulitis
Ocular Tumors in Infants
Hemangioma
Lymphatic Malformation (Lymphangioma)
Dermoid Cysts
Teratoma
Rhabdomyosarcoma
Retinoblastoma
Ocular Manifestations of Maternal Substance Abuse
Key Points
References
96
96 Retinopathy of Prematurity
Abstract
Keywords
Introduction
Incidence
Pathogenesis
Phase 1 ROP
Phase 2 ROP
Risk Factors
Oxygen and ROP
Gestational Age and Birth Weight
Low IGF-1
Hyperglycemia and Insulin Use
Classification
Clinical Course
Therapy
Candidate Interventions for Prevention and Treatment
Recommendations for Examination Schedule
Acknowledgment
Key Points
References
97
97 Musculoskeletal Disorders in Neonates
Abstract
Keywords
Normal Embryology
Embryonic Development
Extremities
Spine
Fetal Development
Congenital Abnormalities
Teratogenic Abnormalities
Genetic Disorders
Mendelian Disorders
Chromosomal Abnormalities
Multifactorial Conditions
Congenital Limb Malformations
Failure of Formation of Parts
Failure of Differentiation of Parts
Duplication
Overgrowth
Undergrowth
Congenital Constriction Band Syndrome
Generalized Skeletal Abnormalities
Spinal Defects
In Utero Positioning
Trauma
Spine
Spinal Injury
Brachial Plexus Injury
Muscular Torticollis
Fractures
Clavicle
Long-Bone Fractures
Key Points
References
98
98 Bone and Joint Infections in Neonates
Abstract
Keywords
Osteomyelitis
Pathology and Etiology
Diagnosis
Imaging
Treatment
Septic Arthritis
Pathology and Etiology
Diagnosis
Imaging
Treatment
Acknowledgment
Key Points
References
99
99 Congenital Abnormalities of the Upper and Lower Extremities and Spine
Abstract
Keywords
Upper Extremities
Shoulder
Elbow
Forearm and Wrist
Radial Hypoplasia and Clubhand
Constriction Bands
Thumb and Fingers of the Hand
Congenital Amputations
Syndactyly
Polydactyly
Macrodactyly
Spine
Infantile Idiopathic Scoliosis
Congenital Spinal Deformities
Congenital Scoliosis
Congenital Kyphosis
Sacral Agenesis
Lower Extremities
Torsional and Angular Deformities
Physiologic Bowleg
Tibial Torsion
Internal Tibial Torsion
External Tibial Torsion
Congenital Angular Deformities of the Tibia and Fibula
Posteromedial Angulation
Anterolateral Angulation
Hip
Developmental Dysplasia of the Hip
Pathology and Etiology
Diagnosis
Imaging
Treatment
Proximal Femoral Focal Deficiency
Knee
Hyperextension, Subluxation, and Dislocation of the Knee
Foot and Toes
Metatarsus Adductus
Diagnosis
Imaging
Treatment
Calcaneovalgus Foot
Diagnosis
Imaging
Treatment
Talipes Equinovarus (Clubfoot)
Diagnosis
Imaging
Treatment
Congenital Vertical Talus
Diagnosis
Imaging
Treatment
Syndactyly and Polydactyly of the Toes
Syndromes
Skeletal Dysplasias
Osteogenesis Imperfecta
Neurofibromatosis
Arthrogryposis Multiplex Congenita
Fibrodysplasia Ossificans Progressiva
Key Points
References
appendix
Appendix A Therapeutic Agents
appendix b
Appendix B Tables of Normal Values
Physiologic Parameters
Blood Pressure
Intraocular Pressure
Time of First Void and Stool
Growth Charts
Chemistry Values
Hormone Levels
Cerebrospinal Fluid
Urine
Immunoglobulin Values
Hematologic Values
Conversion Tables
Standard International Unit
Metric Units
Atomic Weight and Valence
appendix c
Appendix C Schedule for Immunization of Preterm Infants
Keywords
All Preterm Infants
Hepatitis B Vaccine at Birth
Hepatitis BsAg–Negative Mother
Hepatitis BsAg–Positive Mother
Hepatitis B Surface Antigen–Unknown Mother
References