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دانلود کتاب Fanaroff and Martin’s Neonatal-Perinatal Medicine. Diseases of the Fetus and Infant
دانلود کتاب پزشکی نوزادان- پری ناتال فناروف و مارتین. بیماری های جنین و نوزاد
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Fanaroff and Martin’s Neonatal-Perinatal Medicine. Diseases of the Fetus and Infant
ویرایش: [11 ed.] نویسندگان: Richard J. Martin, Avroy A. Fanaroff, Michele C. Walsh سری: ISBN (شابک) : 9780323567114, 9996122948 ناشر: Elsevier Inc. سال نشر: 2020 تعداد صفحات: [2157] زبان: English فرمت فایل : PDF (درصورت درخواست کاربر به PDF، EPUB یا AZW3 تبدیل می شود) حجم فایل: 171 Mb
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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
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