Additional Information
Book Details
Abstract
Covering the evaluation and management of every key disease and condition affecting newborns, Avery’s Diseases of the Newborn, by Drs. Christine A. Gleason and Sandra E. Juul, remains your #1 source for practical, clinically relevant information in this fast-changing field. You’ll find the specific strategies you need to confidently diagnose and treat this unique patient population, in a full-color, easy-to-use single volume that focuses on key areas of practice. Now in a thoroughly revised 10th Edition, this highly respected reference is an authoritative clinical resource for neonatal practitioners.
Provides up-to-date information on every aspect of newborn evaluation and management in a new, visually improved format featuring more than 500 all-new, full-color illustrations integrated within each chapter.
Includes greatly expanded Neurology and Hematology sections that highlight the knowledge and expertise of new co-editor, Dr. Sandra E. Juul.
Features all-new chapters on Palliative Care, Gastroesophageal Reflux, Platelet Disorders, Transfusion Therapy, Hypertension, , and The Ear and Hearing Disorders, as well as expanded coverage of brain injury and neuroprotective strategies in the preterm and term infant.
Contains new Key Points boxes at the beginning of every chapter.
Brings you up to date on current topics such as the evolving epidemic of neonatal abstinence syndrome and the new clinical uses of ultrasound.
Table of Contents
| Section Title | Page | Action | Price |
|---|---|---|---|
| Front Cover | cover | ||
| Inside Front Cover | IFC1 | ||
| Avery's Diseases of the Newborn | i | ||
| Copyright Page | iv | ||
| Dedication | v | ||
| Contributors | vii | ||
| Preface | xxi | ||
| History | xxi | ||
| What’s New and Improved About This Edition? | xxi | ||
| Acknowledgments and Gratitude | xxii | ||
| Table Of Contents | xxiii | ||
| Video Contents | xxvii | ||
| Part XV: Hematologic System and Disorders of Bilirubin Metabolism | xxvii | ||
| 79\tNeonatal Bleeding and Thrombotic Disorders | xxvii | ||
| I Overview | 1 | ||
| 1 Neonatal and Perinatal Epidemiology | 1 | ||
| Health Disorders of Pregnancy and the Perinatal Period | 1 | ||
| Key Population Mortality Rates | 1 | ||
| Sources of Information on Mortality–Vital Data | 2 | ||
| Time Trends in Mortality Rates of the Perinatal Period in the United States | 2 | ||
| International Comparisons | 6 | ||
| Health Disparities in the Perinatal Period | 6 | ||
| Major Causes of Death | 6 | ||
| Major Morbidities Related to the Perinatal Period | 7 | ||
| Factors Affecting Perinatal Health | 8 | ||
| Health States in Pregnancy | 8 | ||
| Health Behaviors | 8 | ||
| Perinatal Medical Care | 8 | ||
| Epidemiologic Study Designs in the Perinatal Period | 8 | ||
| Cohort Studies in Pregnancy/Birth | 8 | ||
| Randomized Controlled Trials | 9 | ||
| Summary and Conclusions | 9 | ||
| Suggested Readings | 10 | ||
| References | 10.e1 | ||
| 2 Biomedical Informatics in Neonatology | 11 | ||
| Background | 11 | ||
| Biomedical and Health Informatics | 12 | ||
| Databases | 13 | ||
| Electronic Health Record | 15 | ||
| Evaluating Therapeutic Recommendations | 17 | ||
| Online Resources | 18 | ||
| Future Directions | 19 | ||
| Suggested Readings | 19 | ||
| References | 19.e1 | ||
| 3 Ethics, Data, and Policy in Newborn Intensive Care | 20 | ||
| Philosophy | 20 | ||
| Getting Good Data | 20 | ||
| Public Policy: the Baby Doe Case | 21 | ||
| Malpractice Cases Against Neonatologists | 21 | ||
| Future Directions | 22 | ||
| Fetal Medicine Centers | 22 | ||
| Expanded Newborn Screening | 22 | ||
| Should Policy Dictate Resuscitation Practices? | 23 | ||
| Summary | 23 | ||
| Suggested Readings | 23 | ||
| References | 24.e1 | ||
| 4 Global Neonatal Health | 25 | ||
| Global Newborn Health – History | 25 | ||
| Global Newborn Health 2000–2015: Addressing Cause-Specific Neonatal Mortality | 26 | ||
| Major Causes of Neonatal Mortality | 30 | ||
| Birth Asphyxia | 30 | ||
| Neonatal Sepsis | 30 | ||
| Preterm Birth | 31 | ||
| Antenatal Corticosteroids | 31 | ||
| Continuous Positive Airway Pressure | 33 | ||
| Surfactant | 33 | ||
| Kangaroo Mother Care | 33 | ||
| Global Newborn Health at the End of the Millennium Development Goals Era | 33 | ||
| Toward a “Grand Convergence” | 36 | ||
| Summary | 38 | ||
| Suggested Readings | 39 | ||
| References | 39.e1 | ||
| II Fetal Growth and Development | 40 | ||
| 5 Development, Function, and Pathology of the Placenta | 40 | ||
| Placental Origin | 40 | ||
| Development of the Placenta | 41 | ||
| Trophoblast Lineage Allocation | 41 | ||
| Trophoblast Differentiation | 41 | ||
| Trophoblast Invasion | 43 | ||
| Placental Functions | 45 | ||
| Transport | 45 | ||
| Metabolism | 46 | ||
| Endocrine Function | 46 | ||
| Steroid Hormones | 46 | ||
| Progesterone | 46 | ||
| Estrogens | 47 | ||
| Glucocorticoids | 48 | ||
| Pituitary-Like Hormones | 48 | ||
| Human Chorionic Gonadotropin | 49 | ||
| Human Chorionic Somatomammotropin | 49 | ||
| Placental Growth Hormone Variant | 49 | ||
| Insulin-Like Growth Factors | 50 | ||
| Other Secreted Growth Factors | 50 | ||
| Inhibin and Activin | 50 | ||
| Proopiomelanocortin Hormones | 50 | ||
| Hypothalamic-Like Hormones | 51 | ||
| Gonadotropin-Releasing Hormone | 51 | ||
| Corticotrophin-Releasing Hormone and Urocortins | 51 | ||
| Thyrotropin-Releasing Hormone | 51 | ||
| Growth Hormone-Releasing Hormone, Somatostatin, and Ghrelin | 51 | ||
| Leptin | 51 | ||
| Oxytocin | 51 | ||
| Additional Placental Secreted Factors | 52 | ||
| Vasoactive Peptides | 52 | ||
| Endogenous Opioid Peptides | 52 | ||
| Cytokines | 52 | ||
| Eicosanoids | 52 | ||
| Immunologic Function | 52 | ||
| Fetal Programming | 53 | ||
| Regulation of Placental Function | 53 | ||
| Nutrient-Sensing Signaling Pathways | 53 | ||
| Epigenetic Regulation in the Placenta | 53 | ||
| Placental Diseases | 55 | ||
| Placental Disorders of Pregnancy | 55 | ||
| Preeclampsia | 55 | ||
| Intrauterine Growth Restriction | 56 | ||
| Preterm Birth | 56 | ||
| Gestational Diabetes | 57 | ||
| Central Nervous System Injury | 57 | ||
| Evaluation of Placental Dysfunction | 57 | ||
| Placental Histopathology | 57 | ||
| Placental Imaging | 58 | ||
| Serum Biomarkers of Placental Disease | 59 | ||
| Serum Analytes | 59 | ||
| Circulating Cell-Free Fetal DNA | 59 | ||
| Extracellular Vesicles | 59 | ||
| Summary | 60 | ||
| Suggested Readings | 60 | ||
| References | 60.e1 | ||
| 6 Abnormalities of Fetal Growth | 61 | ||
| Defining Fetal Growth | 61 | ||
| Patterns of Altered Growth | 62 | ||
| Fetal Causes of Growth Restriction | 63 | ||
| Placental Causes of Growth Restriction | 63 | ||
| Maternal Causes of Growth Restriction | 64 | ||
| Maternal Smoking | 65 | ||
| Short-Term Outcomes of Fetal Growth Restriction | 65 | ||
| Developmental Outcomes of Fetal Growth Restriction: Early Childhood | 65 | ||
| Long-Term Consequences of Fetal Growth Restriction: the Developmental Origins of Adult Disease | 66 | ||
| Programming | 66 | ||
| Epidemiology | 66 | ||
| The Role of Catch-Up Growth | 66 | ||
| Size at Birth, Insulin Secretion, and Insulin Action | 67 | ||
| Epidemiologic Challenges | 67 | ||
| Size at Birth Cannot Be Used as a Proxy for Fetal Growth | 67 | ||
| Genetics versus Environment | 67 | ||
| Cellular Mechanisms of Developmental Programming | 67 | ||
| Molecular Mechanisms of Developmental Programming: Epigenetics | 68 | ||
| Macrosomia | 68 | ||
| Summary | 69 | ||
| Suggested Readings | 69 | ||
| References | 69.e1 | ||
| 7 Multiple Gestations and Assisted Reproductive Technology | 70 | ||
| Epidemiology of Multiples | 70 | ||
| Diagnosing Zygosity and Chorionicity | 71 | ||
| The Effect of Chorionicity | 71 | ||
| Increase in Monozygotic Twins With Assisted Reproductive Technology | 72 | ||
| Age | 73 | ||
| Zona Pellucida Manipulation | 73 | ||
| Blastocyst Transfer | 73 | ||
| Ovulation Induction and Superovulation | 73 | ||
| Fetal Complications Associated With Multiples | 73 | ||
| Maternal Complications | 75 | ||
| Psychosocial Factors | 75 | ||
| Cost | 75 | ||
| Decreasing the Risk of Multiples | 76 | ||
| Multifetal Pregnancy Reduction | 76 | ||
| Summary | 77 | ||
| Acknowledgment | 77 | ||
| Suggested Readings | 77 | ||
| References | 77.e1 | ||
| 8 Prematurity and Stillbirth | 78 | ||
| Demographic Factors and Disparities | 79 | ||
| Environmental Factors | 80 | ||
| Nutrition and Maternal Body Weight | 80 | ||
| Infection and Microbiota | 80 | ||
| Genetic Factors | 80 | ||
| Placental and Pregnancy Factors | 81 | ||
| Prevention of Preterm Birth | 81 | ||
| Stillbirth | 81 | ||
| Looking Forward | 81 | ||
| Suggested Readings | 81 | ||
| References | 81.e1 | ||
| 9 Nonimmune Hydrops | 82 | ||
| Incidence | 82 | ||
| Etiology | 82 | ||
| Pathophysiology | 84 | ||
| Normal Fluid Homeostasis | 84 | ||
| Derangements in Fluid Homeostasis | 85 | ||
| Elevated Central Venous Pressure | 85 | ||
| Decreased Lymphatic Flow | 85 | ||
| Decreased Oncotic Pressure | 85 | ||
| Increased Capillary Leak | 85 | ||
| Prenatal Diagnosis | 85 | ||
| Prenatal Management | 86 | ||
| Neonatal Evaluation | 87 | ||
| Intensive Care of the Infant With Hydrops Fetalis | 87 | ||
| Respiratory Management | 87 | ||
| Fluid and Electrolyte Management | 88 | ||
| Cardiovascular Management | 88 | ||
| Lymphatic Evaluation and Interventions | 88 | ||
| Clinical Course and Outcome | 88 | ||
| Suggested Readings | 88 | ||
| References | 89.e1 | ||
| III Maternal Health | 90 | ||
| 10 Maternal Diabetes | 90 | ||
| Types of Diabetes | 90 | ||
| Type 1 Diabetes | 90 | ||
| Type 2 Diabetes | 90 | ||
| Monogenic Diabetes | 90 | ||
| Gestational Diabetes | 92 | ||
| Diabetic Embryopathy | 92 | ||
| Fetal Growth and Macrosomia | 94 | ||
| Stillbirth and Perinatal Mortality | 95 | ||
| Maternal Preeclampsia | 96 | ||
| Obstetric Management of Diabetes in Pregnancy | 97 | ||
| Preconception Care | 97 | ||
| Medical Therapy for Diabetes in Pregnancy | 97 | ||
| Antenatal Monitoring | 98 | ||
| Delivery Planning | 98 | ||
| Intrapartum Diabetes Management | 99 | ||
| Maternal Obesity | 99 | ||
| Neonatal Complications | 99 | ||
| Hypoglycemia | 99 | ||
| Respiratory Distress | 100 | ||
| Antenatal Corticosteroids for Reduction in Risk of Respiratory Distress Syndrome | 101 | ||
| Hypertrophic Cardiomyopathy | 101 | ||
| Hypocalcemia and Hypomagnesemia | 101 | ||
| Polycythemia | 102 | ||
| Hyperbilirubinemia | 102 | ||
| Breastfeeding | 102 | ||
| Suggested Readings | 103 | ||
| References | 103.e1 | ||
| 11 Maternal Medical Disorders of Fetal Significance | 104 | ||
| General Principles in the Diagnosis and Management of Medical Complications During Pregnancy | 104 | ||
| Diagnostic Radiation | 104 | ||
| Surgery During Pregnancy | 105 | ||
| Medication Usage | 105 | ||
| Autoimmune Disorders | 106 | ||
| Systemic Lupus Erythematosus | 106 | ||
| Antiphospholipid Antibody Syndrome | 107 | ||
| Neonatal Lupus | 108 | ||
| Immune Thrombocytopenia | 109 | ||
| Heart Disease | 109 | ||
| Cardiomyopathy | 109 | ||
| Congenital Heart Disease | 110 | ||
| Coronary Artery Disease | 110 | ||
| Renal Disease | 110 | ||
| Cancer | 111 | ||
| Principles | 111 | ||
| Chemotherapy | 111 | ||
| Radiation Therapy | 112 | ||
| Cervical Cancer | 113 | ||
| Breast Cancer | 113 | ||
| Ovarian Cancer | 113 | ||
| Survivors of Childhood Cancer | 114 | ||
| Maternal Seizure Disorders | 114 | ||
| Perinatal Risk | 114 | ||
| Fetal Hydantoin Syndrome | 115 | ||
| Management | 115 | ||
| Mental Health Disorders | 115 | ||
| Depression | 115 | ||
| Postpartum Psychosis | 117 | ||
| Schizophrenia | 117 | ||
| Suggested Readings | 118 | ||
| References | 118.e1 | ||
| 12 Hypertensive Complications of Pregnancy | 119 | ||
| Classification of Hypertensive Disorders of Pregnancy | 119 | ||
| Chronic Hypertension | 120 | ||
| Antihypertensive Treatment of Chronic Hypertension in Pregnancy | 120 | ||
| Antenatal Fetal Surveillance in Chronic Hypertension | 121 | ||
| Gestational Hypertension | 121 | ||
| Preeclampsia–Eclampsia | 122 | ||
| Etiology | 122 | ||
| Prediction | 123 | ||
| Prevention | 123 | ||
| Antepartum Management | 123 | ||
| Preeclampsia and Fetal Risk | 124 | ||
| Intrapartum Management | 124 | ||
| Eclampsia | 125 | ||
| Suggested Readings | 125 | ||
| References | 125.e1 | ||
| 13 Prenatal Drug Exposure | 126 | ||
| Epidemiology of Perinatal Substance Exposure | 126 | ||
| Prevalence | 126 | ||
| Health Policy | 127 | ||
| Perinatal Exposure to Specific Substances (Tables 13.1–13.2) | 127 | ||
| Alcohol | 127 | ||
| History/Epidemiology | 127 | ||
| Pharmacology and Biologic Actions | 127 | ||
| Complications of Pregnancy | 128 | ||
| Fetal Growth | 129 | ||
| Fetal Alcohol Spectrum Disorders | 129 | ||
| Cigarette Smoking and Nicotine | 131 | ||
| IV Labor and Delivery | 145 | ||
| 14 Antepartum Fetal Assessment | 145 | ||
| General Principles | 145 | ||
| Principles of Testing | 145 | ||
| Fetal Physiology and Behavior | 145 | ||
| Technology | 146 | ||
| Indications and Timing | 146 | ||
| Fetal Assessment in Low-Risk Pregnancies | 146 | ||
| Ultrasound: Pregnancy Dating | 146 | ||
| Ultrasound: Second and Third Trimesters | 147 | ||
| Fetal Movement Counting | 148 | ||
| Fetal Assessment in High-Risk Pregnancies | 148 | ||
| Cardiotocography | 148 | ||
| Nonstress Test | 149 | ||
| Contraction Stress Test | 149 | ||
| Ultrasound | 150 | ||
| Growth Assessment | 151 | ||
| Amniotic Fluid Assessment | 153 | ||
| Biophysical Profile | 153 | ||
| Doppler | 155 | ||
| Summary | 156 | ||
| Suggested Readings | 156 | ||
| References | 157.e1 | ||
| 15 Complicated Deliveries | 158 | ||
| Overview | 158 | ||
| Vaginal Delivery | 158 | ||
| Cesarean Section | 159 | ||
| Operative Vaginal Delivery: Obstetric Forceps and Vacuum Extraction | 159 | ||
| Description of the Obstetric Forceps | 159 | ||
| Indications for Use of Obstetric Forceps | 160 | ||
| Forceps and Potential Neonatal Morbidity | 160 | ||
| Vacuum Delivery: Indications, Uses, and Comparison With Forceps Procedures | 161 | ||
| Shoulder Dystocia | 163 | ||
| Vaginal Breech Delivery | 165 | ||
| Multifetal Delivery | 166 | ||
| Twin Delivery | 166 | ||
| Vertex–Vertex | 166 | ||
| Vertex–Nonvertex | 167 | ||
| Nonvertex–Nonvertex | 167 | ||
| Monochorionic, Monoamniotic Twins | 167 | ||
| Higher-Order Multiple Gestations | 167 | ||
| Vaginal Birth After Cesarean: Neonatal Concerns | 168 | ||
| Cord Accidents | 168 | ||
| Suggested Readings | 169 | ||
| References | 169.e1 | ||
| 16 Obstetric Analgesia and Anesthesia | 170 | ||
| History of Obstetric Anesthesia | 170 | ||
| Anatomy of Labor Pain | 170 | ||
| Changes in Maternal Physiology and the Implications | 171 | ||
| Maternal Circulatory System | 171 | ||
| Maternal Airway and Respiratory Systems | 171 | ||
| Maternal Gastrointestinal System | 171 | ||
| Uterine and Fetal Circulation | 171 | ||
| Analgesic Options for Labor and Vaginal Delivery | 172 | ||
| Nonpharmacologic Analgesia | 172 | ||
| Systemic Medications | 172 | ||
| Inhaled Nitrous Oxide | 173 | ||
| Neuraxial (Regional) Analgesia | 173 | ||
| Neuraxial Local Anesthetics | 173 | ||
| Neuraxial Opioids | 173 | ||
| Neuraxial Techniques for Labor Analgesia | 174 | ||
| Epidural Analgesia | 174 | ||
| Effects on the Progress of Labor and Rate of Operative Delivery | 175 | ||
| Spinal Analgesia | 175 | ||
| Combined Spinal–Epidural Analgesia | 175 | ||
| Contraindications and Complications of Neuraxial Techniques | 175 | ||
| Paracervical Block | 176 | ||
| Pudendal Block | 176 | ||
| Anesthesia for Cesarean Delivery | 176 | ||
| Epidural Anesthesia for Cesarean Delivery | 176 | ||
| Spinal Anesthesia for Cesarean Delivery | 177 | ||
| Local Anesthesia | 177 | ||
| General Anesthesia | 177 | ||
| Induction Agents | 177 | ||
| Nitrous Oxide | 177 | ||
| Inhaled Halogenated Anesthetics | 178 | ||
| Neuromuscular Blocking Agents | 178 | ||
| Summary | 179 | ||
| Suggested Readings | 179 | ||
| References | 179.e1 | ||
| V Genetics | 180 | ||
| 17 The Human Genome and Neonatal Care | 180 | ||
| History of Mapping and Sharing the Genome | 180 | ||
| Defining the Genome and Genomics | 181 | ||
| Mitochondrial DNA | 181 | ||
| Types of Variation in the Human Genome | 181 | ||
| Single Nucleotide Polymorphisms | 181 | ||
| Copy Number Variants | 182 | ||
| Current Variant Counts | 182 | ||
| Regulation of Gene Expression | 182 | ||
| Connecting Genes to Diseases | 183 | ||
| Identification of Disease-Related Genes | 183 | ||
| Making a Diagnosis in the Human Genome Era | 184 | ||
| Applying Exomes and Whole Genome Sequences in Clinical Management | 184 | ||
| Complex Common/Multigenic Diseases of Newborns | 187 | ||
| Guidelines and Recommendations for Integration of Genomics Into Practice | 189 | ||
| Prenatal Identification of Genetic Disorders | 189 | ||
| The Future | 189 | ||
| Suggested Readings | 189 | ||
| References | 189.e1 | ||
| 18 Prenatal Diagnosis | 190 | ||
| Background | 190 | ||
| Principles of Prenatal Screening and Diagnosis | 190 | ||
| Invasive Prenatal Diagnostic Procedures | 190 | ||
| Midtrimester Genetic Amniocentesis | 190 | ||
| Chorionic Villus Sampling | 191 | ||
| Percutaneous Umbilical Cord Blood Sampling | 192 | ||
| Genetic Testing of the Fetus | 193 | ||
| Microarray Technology | 194 | ||
| Exome Sequencing | 195 | ||
| Noninvasive Prenatal Screening | 195 | ||
| Maternal Serum Screening | 195 | ||
| Prenatal Fetal Imaging | 196 | ||
| Cell-Free DNA (Noninvasive Prenatal Testing) | 198 | ||
| Preimplantation Genetic Diagnosis/Screening | 199 | ||
| Preimplantation Genetics | 199 | ||
| Summary | 200 | ||
| Suggested Readings | 200 | ||
| References | 200.e1 | ||
| 19 The Dysmorphic Infant | 201 | ||
| History | 201 | ||
| Prenatal | 201 | ||
| Birth | 201 | ||
| Medical | 202 | ||
| Pedigree Analysis and Family History | 202 | ||
| Physical Examination for Dysmorphology | 203 | ||
| Adjunct Studies | 206 | ||
| Literature Review | 207 | ||
| Specialized Laboratory Tests | 209 | ||
| Diagnosis | 209 | ||
| Summary | 209 | ||
| Suggested Readings | 210 | ||
| References | 210.e1 | ||
| 20 Chromosome Disorders | 211 | ||
| Human Karyotype | 211 | ||
| Trisomies | 213 | ||
| Down Syndrome (Trisomy 21) | 213 | ||
| Clinical Features | 213 | ||
| Genetic Counseling | 214 | ||
| Trisomy 18 (Edwards Syndrome) | 215 | ||
| VI Metabolic Disorders of the Newborn | 224 | ||
| 21 Introduction to Metabolic and Biochemical Genetic Diseases | 224 | ||
| Classification of Inborn Errors of Metabolism | 225 | ||
| Signs and Symptoms of Inborn Errors | 226 | ||
| Emergency Treatment | 229 | ||
| Suggested Readings | 229 | ||
| 22 Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism | 230 | ||
| Carbohydrate Metabolism Disorders | 230 | ||
| Galactosemia | 230 | ||
| Epimerase Deficiency Galactosemia | 234 | ||
| Galactokinase Deficiency | 234 | ||
| Glycogen Storage Diseases | 234 | ||
| Hepatic Glycogen Storage Diseases | 234 | ||
| Muscular Glycogen Storage Diseases | 234 | ||
| Fructose Metabolism | 236 | ||
| Urea Cycle Disorders | 236 | ||
| Transient Hyperammonemia of the Newborn | 238 | ||
| Amino Acid Metabolism Disorders | 238 | ||
| Maple Syrup Urine Disease | 238 | ||
| Tyrosinemia Type 1 | 240 | ||
| Nonketotic Hyperglycinemia | 240 | ||
| Hyperhomocystinemias and Remethylation Disorders | 241 | ||
| Phenylketonuria | 241 | ||
| Organic Acidemias | 242 | ||
| Methylmalonic Acidemia | 242 | ||
| Propionic Acidemia | 243 | ||
| Isovaleric Acidemia | 244 | ||
| Multiple Carboxylase Deficiency | 244 | ||
| Glutaric Aciduria Type 1 | 244 | ||
| Fatty Acid Oxidation Disorders | 245 | ||
| Medium-Chain Acyl-CoA Dehydrogenase Deficiency | 245 | ||
| Very Long Chain Acyl-CoA Dehydrogenase Deficiency | 246 | ||
| Short-Chain Acyl-CoA Dehydrogenase Deficiency | 246 | ||
| Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency and Trifunctional Protein Deficiency | 246 | ||
| Primary Carnitine Transporter Deficiency | 246 | ||
| Carnitine Palmitoyltransferase Type I Deficiency | 247 | ||
| Carnitine Acylcarnitine Translocase Deficiency | 247 | ||
| Carnitine Palmitoyltransferase Type II Deficiency | 247 | ||
| Multiple Acyl-CoA Dehydrogenase Deficiency | 247 | ||
| Ketone Metabolism Disorders | 248 | ||
| Primary Lactic Acidosis | 248 | ||
| Pyruvate Dehydrogenase Complex Deficiency | 249 | ||
| Pyruvate Carboxylase Deficiency | 249 | ||
| Electron Transport Chain Defects | 249 | ||
| Benign Infantile Mitochondrial Myopathy, Cardiomyopathy, or Both | 250 | ||
| Lethal Infantile Mitochondrial Disease | 251 | ||
| Leigh Disease: Subacute Necrotizing Encephalomyelopathy | 251 | ||
| Pearson Syndrome | 251 | ||
| Barth Syndrome | 251 | ||
| Early Lethal Lactic Acidosis | 251 | ||
| Suggested Readings | 251 | ||
| References | 252.e1 | ||
| 23 Lysosomal Storage, Peroxisomal, and Glycosylation Disorders and Smith–Lemli–Opitz Syndrome Presenting in the Neonate | 253 | ||
| Lysosomal Storage Disorders | 255 | ||
| Clinical Presentations | 258 | ||
| Niemann–Pick A Disease (Acute, Sphingomyelinase Deficient) | 258 | ||
| Etiology | 258 | ||
| Clinical Features | 258 | ||
| Niemann–Pick C Disease | 259 | ||
| Etiology | 259 | ||
| Clinical Features | 259 | ||
| Gaucher Disease Type 2 (Acute Neuropathic) | 260 | ||
| VII Basic Newborn Care | 273 | ||
| 24 Newborn Resuscitation | 273 | ||
| Transition From Fetal to Extrauterine Life | 274 | ||
| Environment and Preparation | 275 | ||
| Transition and Resuscitation | 277 | ||
| Recommendations and Evidence for Delayed Cord Clamping | 277 | ||
| Cord Milking | 277 | ||
| Breathing During Delayed Cord Clamping | 278 | ||
| Delivery Room Monitoring | 279 | ||
| Assessment | 279 | ||
| Heart Rate | 279 | ||
| Airway Pressure | 279 | ||
| Initial Steps: Temperature Management and Maintaining the Airway | 281 | ||
| Assisting Ventilation | 281 | ||
| Transitional Oxygenation and Oxygen Use | 283 | ||
| Assisting Circulation | 284 | ||
| Apgar Score | 286 | ||
| Specific Problems Encountered During Resuscitation | 286 | ||
| Neonatal Response to Maternal Anesthesia/Analgesia | 286 | ||
| The Use of Early Caffeine | 286 | ||
| Conditions Complicating Resuscitation | 287 | ||
| Limits of Viability | 287 | ||
| Care After Resuscitation | 288 | ||
| Suggested Readings | 288 | ||
| References | 288.e1 | ||
| 25 Newborn Evaluation | 289 | ||
| Initial Newborn Evaluation: Key Elements | 289 | ||
| History | 289 | ||
| Physical Examination Considerations | 290 | ||
| Examination at Birth and Delivery Room Disposition | 291 | ||
| Nursery Admission Examination | 291 | ||
| Targeted or Problem-Directed Evaluation | 291 | ||
| Daily Follow-Up Encounter | 291 | ||
| Nursery Discharge Examination | 291 | ||
| Performance of Examination | 291 | ||
| Approach to the Newborn Examination | 291 | ||
| Environment | 291 | ||
| Evaluation of Gestational Age | 292 | ||
| Determination of Key Metrics | 292 | ||
| Initial Observation | 292 | ||
| Example Examination Sequence | 294 | ||
| Detailed Physical Examination | 294 | ||
| Skin | 294 | ||
| Head | 300 | ||
| Face | 302 | ||
| Ears | 302 | ||
| Eyes | 303 | ||
| Nose | 303 | ||
| Mouth and Oral Cavity | 303 | ||
| Neck | 304 | ||
| Chest Wall | 304 | ||
| Lungs and Respiration | 304 | ||
| Cardiovascular System | 305 | ||
| Abdomen | 306 | ||
| Genitalia and Perineum | 306 | ||
| Back | 307 | ||
| Musculoskeletal System | 307 | ||
| Hips. | 307 | ||
| Neurologic Examination | 307 | ||
| Neonatal Reflexes. | 308 | ||
| Brachial Plexus Injury. | 309 | ||
| Cranial Nerves. | 309 | ||
| Suggested Readings | 310 | ||
| Books | 310 | ||
| Guidelines and Policy Statements | 310 | ||
| Online Resources | 311 | ||
| References | 311.e1 | ||
| 26 Newborn Nursery Care | 312 | ||
| Initial Assessment | 312 | ||
| Routine Testing | 313 | ||
| Glucose | 313 | ||
| Newborn Metabolic Screening | 314 | ||
| Hearing Screening | 314 | ||
| Screening for Critical Congenital Heart Disease | 315 | ||
| Prenatal Ultrasound Screening for Birth Defects | 315 | ||
| Central Nervous System Findings | 315 | ||
| Cardiac Findings | 316 | ||
| Gastrointestinal Findings | 316 | ||
| Urinary Tract Findings | 316 | ||
| Car Seats and the Newborn Car Seat Challenge | 316 | ||
| Routine and Common Medical Treatments | 316 | ||
| Prevention of Ophthalmia Neonatorum and Conjunctivitis | 316 | ||
| Vitamin K | 317 | ||
| Circumcision | 318 | ||
| Hepatitis B Vaccine | 319 | ||
| Ongoing Care | 319 | ||
| Umbilical Cords | 319 | ||
| Umbilical Cord Variants | 319 | ||
| Prevention of Omphalitis | 319 | ||
| Delayed Cord Clamping | 319 | ||
| Umbilical Cord Blood Banking | 319 | ||
| Breastfeeding | 320 | ||
| Benefits of Breastfeeding | 320 | ||
| Support of Breastfeeding | 320 | ||
| Breastfeeding Problems | 320 | ||
| Supplementation of Breastfeeding | 322 | ||
| Contraindications to Breastfeeding | 322 | ||
| Bottle feeding | 322 | ||
| Anticipatory Guidance | 323 | ||
| Sleep Position | 324 | ||
| Discharge and Follow-Up | 324 | ||
| Common Problems During the Nursery Stay | 324 | ||
| Hypothermia and Hyperthermia | 324 | ||
| Hypothermia | 324 | ||
| Hyperthermia | 325 | ||
| Elimination | 325 | ||
| Urination | 325 | ||
| Defecation | 325 | ||
| Jaundice | 325 | ||
| Respiratory Complications | 327 | ||
| Cardiovascular Issues | 328 | ||
| Possible Neonatal Sepsis | 328 | ||
| Group B Streptococcus Screening and Intrapartum Antibiotic Prophylaxis | 329 | ||
| Evaluation of Perinatal Risk Factors | 329 | ||
| Clinical and Laboratory Evaluation | 330 | ||
| Suggested Readings | 330 | ||
| References | 331.e1 | ||
| 27 Newborn Screening | 332 | ||
| Screening Procedure | 333 | ||
| Specimen | 333 | ||
| Specimen Collection | 333 | ||
| Timing of Collection | 333 | ||
| Screening Tests | 336 | ||
| Secondary Tests | 336 | ||
| Physician Contact for Abnormal Results | 336 | ||
| Screened Disorders | 338 | ||
| Metabolic Disorders | 338 | ||
| Amino Acid Disorders | 338 | ||
| Phenylketonuria | 338 | ||
| Maple Syrup Urine Disease | 339 | ||
| Homocystinuria | 339 | ||
| Urea Cycle Disorders | 339 | ||
| Tyrosinemia | 339 | ||
| Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Other Fatty Acid Oxidation Disorders | 340 | ||
| Organic Acid Disorders | 340 | ||
| Galactosemia | 340 | ||
| Biotinidase Deficiency | 341 | ||
| Lysosomal Storage Disorders | 341 | ||
| X-Linked Adrenoleukodystrophy | 342 | ||
| Endocrine Disorders | 342 | ||
| Congenital Hypothyroidism | 342 | ||
| Congenital Adrenal Hyperplasia | 342 | ||
| Sickle Cell Disease | 343 | ||
| Cystic Fibrosis | 343 | ||
| Severe Combined Immunodeficiency | 343 | ||
| Hearing Loss | 343 | ||
| Critical Congenital Heart Disease | 343 | ||
| Specific Issues in Newborn Screening | 344 | ||
| Criteria for Newborn Screening | 344 | ||
| False-positive Results | 344 | ||
| Increased Detection by Screening | 345 | ||
| Missed Cases | 345 | ||
| The Future | 346 | ||
| Suggested Readings | 346 | ||
| References | 346.e1 | ||
| VIII High-Risk Newborn Care | 347 | ||
| 28 Neonatal Transport | 347 | ||
| Regionalization of Neonatal Care, Care in the Community, and Transfer Agreements | 347 | ||
| Historical Perspective | 347 | ||
| Care in the Community and Back Transport | 348 | ||
| Transfer Agreements | 348 | ||
| Transport Communication | 348 | ||
| Medical Supervision | 349 | ||
| Mode of Transport | 349 | ||
| Transport Personnel, Education, and Team Composition | 350 | ||
| Quality Improvement | 351 | ||
| Transport Administration | 351 | ||
| Transport Safety | 352 | ||
| Family-Centered Care | 352 | ||
| Medical Legal Issues | 352 | ||
| Patient Care During Transport | 353 | ||
| Extreme Prematurity and the Limits of Viability | 353 | ||
| Thermoregulation | 354 | ||
| Surfactant | 354 | ||
| Hypoxic Respiratory Failure | 354 | ||
| Neurologic Issues | 355 | ||
| Congenital Heart Disease | 356 | ||
| Supplemental Oxygen | 357 | ||
| Prostaglandin E1 Therapy | 357 | ||
| Vascular Access | 358 | ||
| Surgical Emergencies | 358 | ||
| Congenital Diaphragmatic Hernia | 358 | ||
| Abdominal Wall Defects | 358 | ||
| Esophageal Atresia and Tracheoesophageal Fistula | 359 | ||
| Midgut Volvulus | 359 | ||
| Necrotizing Enterocolitis | 359 | ||
| Meningomyelocele | 359 | ||
| Future Directions | 359 | ||
| Suggested Readings | 360 | ||
| References | 360.e1 | ||
| 29 Temperature Regulation | 361 | ||
| Mechanisms of Heat Loss | 361 | ||
| Evaporation | 361 | ||
| Radiation | 362 | ||
| Convection | 362 | ||
| Conduction | 362 | ||
| Mechanisms of Thermoregulation | 362 | ||
| Nonshivering Thermogenesis | 363 | ||
| Thermal Management Strategies | 364 | ||
| Delivery Room Environment | 364 | ||
| Care of the Extremely Low Birth Weight Infant | 364 | ||
| Warming Babies | 364 | ||
| Incubators Versus Radiant Warmers | 364 | ||
| Weaning to an Open Crib | 365 | ||
| Skin-to-Skin Care | 365 | ||
| Additional Considerations | 365 | ||
| Transport | 365 | ||
| Hypothermia | 365 | ||
| Hyperthermia | 366 | ||
| Bathing | 366 | ||
| Summary | 366 | ||
| Suggested Readings | 367 | ||
| References | 367.e1 | ||
| 30 Fluid, Electrolyte, and Acid–Base Balance | 368 | ||
| Fluid and Electrolyte Balance | 368 | ||
| Developmental Changes Affecting Fluid and Electrolyte Balance in the Fetus and Neonate | 368 | ||
| Developmental Changes in Body Composition and Fluid Compartments | 368 | ||
| Changes During Intrauterine Development | 368 | ||
| Changes During Labor and Delivery | 368 | ||
| Effect of Timing of Cord Clamping | 369 | ||
| Changes in the Postnatal Period | 369 | ||
| Physiology of the Regulation of Body Composition and Fluid Compartments | 369 | ||
| Regulation of the Intracellular Solute and Water Compartment | 369 | ||
| Regulation of the Intracellular–Extracellular Interface: the Interstitial Compartment | 370 | ||
| Regulation of the Extracellular Solute and Water Compartment | 371 | ||
| Maturation of Organs Regulating Body Composition and Fluid Compartments | 371 | ||
| Maturation of the Cardiovascular System | 371 | ||
| Maturation of Renal Function | 371 | ||
| Maturation of the Skin | 372 | ||
| Maturation of End-Organ Responsiveness to Hormones Involved in the Regulation of Fluid and Electrolyte Balance | 372 | ||
| Renin–Angiotensin–Aldosterone System. | 372 | ||
| Vasopressin. | 373 | ||
| Atrial Natriuretic Peptide. | 373 | ||
| Brain (or B-Type) Natriuretic Peptide. | 373 | ||
| Prostaglandins. | 373 | ||
| Prolactin. | 373 | ||
| Management of Fluid and Electrolyte Homeostasis | 373 | ||
| General Principles of Fluid and Electrolyte Management | 373 | ||
| Assessment of Fluid and Electrolyte Status | 373 | ||
| Water Homeostasis and Management | 374 | ||
| Water Losses | 374 | ||
| Management of Water Requirements | 374 | ||
| Treatment of Fluid Overload | 375 | ||
| Treatment of Dehydration | 375 | ||
| Sodium and Potassium Homeostasis and Management | 375 | ||
| Hyponatremia | 375 | ||
| Hypernatremia | 376 | ||
| Treatment of Hypernatremia. | 378 | ||
| Potassium Homeostasis and Management | 379 | ||
| Hypokalemia. | 379 | ||
| Treatment of Hypokalemia. | 379 | ||
| Hyperkalemia. | 379 | ||
| Treatment of Hyperkalemia. | 379 | ||
| Clinical Conditions Associated With Fluid and Electrolyte Disturbances | 380 | ||
| Extreme Prematurity | 380 | ||
| Transient Tachypnea of the Newborn | 381 | ||
| Respiratory Distress Syndrome | 381 | ||
| Bronchopulmonary Dysplasia | 381 | ||
| Patent Ductus Arteriosus and Treatment With Indomethacin/Ibuprofen | 382 | ||
| Syndrome of Inappropriate Antidiuretic Hormone Secretion | 382 | ||
| Surgical Conditions | 382 | ||
| Acid–Base Balance | 383 | ||
| Physiology of Acid–Base Balance Regulation | 383 | ||
| Disturbances of Acid–Base Balance in the Newborn | 384 | ||
| General Principles | 384 | ||
| Transitional Physiology After Birth | 385 | ||
| Metabolic Acidosis | 385 | ||
| Respiratory Acidosis | 388 | ||
| Metabolic Alkalosis | 388 | ||
| Respiratory Alkalosis | 389 | ||
| Suggested Readings | 389 | ||
| References | 389.e1 | ||
| 31 Extremely Low-Birth-Weight Infants | 390 | ||
| Epidemiology | 390 | ||
| Perinatal Management | 391 | ||
| Prenatal Consultation | 391 | ||
| General Principles of Care Specific to Extremely Low Birth Weight Infants | 393 | ||
| First Hours | 393 | ||
| Delivery Room | 393 | ||
| Admission to the Neonatal Intensive Care Unit | 394 | ||
| Vascular Access | 395 | ||
| Skin Care | 395 | ||
| Mechanical Ventilation and Noninvasive Respiratory Support | 396 | ||
| Noninvasive Ventilation | 396 | ||
| Conventional Mechanical Ventilation | 397 | ||
| High-Frequency Ventilation | 397 | ||
| Postextubation Continuous Positive Airway Pressure and High-Flow Nasal Cannula Therapy for Respiratory Distress Syndrome and Apnea | 398 | ||
| Adjunctive Therapies to Prevent Bronchopulmonary Dysplasia | 398 | ||
| Vitamin A Supplementation | 398 | ||
| Caffeine | 398 | ||
| Inhaled Nitric Oxide | 398 | ||
| Systemic Corticosteroids | 398 | ||
| Nutritional Management | 399 | ||
| Enteral Nutrition | 399 | ||
| Early Parenteral Nutrition | 399 | ||
| Management and Prevention of Infection | 400 | ||
| Early-Onset Infections | 400 | ||
| Late-Onset Infections | 401 | ||
| Prevention of Nosocomial Infection | 401 | ||
| Neurosensory Complications | 402 | ||
| Developmental and Parental Care | 403 | ||
| Future Directions | 403 | ||
| Suggested References | 403 | ||
| References | 404.e1 | ||
| 32 Late Preterm Infants | 405 | ||
| Definition | 406 | ||
| Pathophysiology and Clinical Course | 407 | ||
| Respiratory | 407 | ||
| Gastrointestinal | 410 | ||
| Nutrition | 410 | ||
| Hypoglycemia | 412 | ||
| Hyperbilirubinemia | 413 | ||
| Infectious Diseases | 413 | ||
| Thermoregulation | 413 | ||
| Neurodevelopment | 414 | ||
| Hospitalization of the Late Preterm Infant | 414 | ||
| Mortality | 414 | ||
| Recommendations | 415 | ||
| Admission Criteria | 415 | ||
| Discharge Criteria | 415 | ||
| Follow-Up After Discharge | 416 | ||
| Readmission to the Hospital | 416 | ||
| Outcomes | 417 | ||
| Future Research | 417 | ||
| Suggested Readings | 418 | ||
| Definition, Epidemiology, and Background | 418 | ||
| Pathophysiology and Clinical Course | 418 | ||
| Mortality | 418 | ||
| Long-Term Outcome | 418 | ||
| References | 418.e1 | ||
| 33 Neonatal Pharmacology | 419 | ||
| Principles of Neonatal Therapeutics | 419 | ||
| Diagnosis | 419 | ||
| Absorption | 419 | ||
| Distribution | 420 | ||
| Metabolism | 420 | ||
| Excretion | 421 | ||
| Pharmacogenetics and Pharmacogenomics | 421 | ||
| Pharmacokinetic Principles | 422 | ||
| Compartment | 422 | ||
| Apparent Volume of Distribution | 422 | ||
| First-Order Kinetics | 423 | ||
| Half-Life | 423 | ||
| Multicompartment First-Order Kinetics | 423 | ||
| Apparent Single-Compartment First-Order Kinetics | 424 | ||
| Zero-Order Kinetics | 424 | ||
| Noncompartmental Analysis | 424 | ||
| Population Pharmacokinetics | 425 | ||
| Target Drug Concentration Strategy | 425 | ||
| Therapeutic Drug Monitoring | 425 | ||
| Pharmacokinetic-Based Dosing | 425 | ||
| Repetitive Dosing and the “Plateau Principle” | 426 | ||
| Clearance | 426 | ||
| Modeling and Simulations | 427 | ||
| Clinical Applications of Pharmacokinetics | 428 | ||
| How to Estimate Dose Adjustments | 428 | ||
| Gentamicin | 428 | ||
| Phenobarbital | 428 | ||
| Drug-Induced Illness | 429 | ||
| Illustrations of Drug-Induced Illnesses in Neonates | 429 | ||
| Reduction and Prevention of Medication Errors in Newborn Care | 429 | ||
| Drug Excretion in Breast Milk | 430 | ||
| Summary | 430 | ||
| Suggested Readings | 431 | ||
| References | 431.e1 | ||
| 34 Neonatal Pain and Stress | 432 | ||
| Historical Timeline | 432 | ||
| Development of Public Policy | 433 | ||
| Recent International Surveys of Clinical Practice | 433 | ||
| Ontogeny and Development of Pain and Stress Responses | 434 | ||
| Assessment of Neonatal Pain and Stress | 434 | ||
| Assessment of the Neonatal Behavioral Responses to Pain | 434 | ||
| Infant Pain Scores | 435 | ||
| Bedside Noninvasive Neurophysiologic Measures to Evaluate Pain and Stress | 436 | ||
| Long-Term Consequences of Neonatal Pain and Stress | 437 | ||
| Clinical Pain and Stress Management Strategies | 437 | ||
| Surgical Anesthesia | 437 | ||
| Fetal Surgery | 437 | ||
| Neonatal Surgery | 437 | ||
| Postoperative Pain Management Strategies | 438 | ||
| Mechanical Ventilation | 438 | ||
| Procedures | 439 | ||
| Blood Sampling and Monitoring | 439 | ||
| Tracheal Intubation | 439 | ||
| Circumcision | 439 | ||
| Other Invasive Procedures | 440 | ||
| Pharmacologic Analgesia | 440 | ||
| Nonopioid Analgesics | 440 | ||
| Nonsteroidal Antiinflammatory Drugs (Indomethacin, Ibuprofen, Ketorolac) | 440 | ||
| Acetaminophen | 440 | ||
| Opioid Analgesics | 440 | ||
| Morphine | 441 | ||
| Fentanyl | 441 | ||
| Enterally Dosed Opioids | 441 | ||
| Mixed Opioid Agonist–Antagonists | 441 | ||
| Long-Term Effects of Neonatal Opioid Exposure | 442 | ||
| Experimental Animal Studies | 442 | ||
| Clinical Studies | 442 | ||
| Topical and Local Anesthetics | 442 | ||
| Sedatives | 443 | ||
| Benzodiazepines | 443 | ||
| Dexmedetomidine | 443 | ||
| Nonpharmacologic Analgesia | 443 | ||
| Summary | 444 | ||
| Suggested Readings | 444 | ||
| References | 445.e1 | ||
| 35 Palliative Care | 446 | ||
| What Is Palliative Care? | 446 | ||
| Paradigms of Palliative Care | 446 | ||
| Scope of the Problem | 447 | ||
| Which Patients Benefit From Palliative Care in the Neonatal Intensive Care Unit? | 447 | ||
| Components of Palliative Care in the Neonatal Intensive Care Unit | 448 | ||
| Grief and Bereavement Support | 449 | ||
| Timing of the News | 449 | ||
| Early Prenatal Diagnosis | 449 | ||
| Late Prenatal Diagnosis | 449 | ||
| Postnatal Diagnosis | 449 | ||
| End-of-Life Care | 450 | ||
| Ethical Concerns | 451 | ||
| Barriers to Palliative Care in the Neonatal Intensive Care Unit | 451 | ||
| Training in Neonatal–Perinatal Palliative Care | 451 | ||
| Research Opportunities/Future Directions | 451 | ||
| Suggested Readings | 452 | ||
| References | 452.e1 | ||
| IX Immunology and Infections | 453 | ||
| 36 Immunology of the Fetus and Newborn | 453 | ||
| Maternal and Placental Immunology | 453 | ||
| Role of Regulatory T Cells in Pregnancy | 455 | ||
| Role of the Microbiome | 456 | ||
| Effect of Pregnancy Complications on the Developing Fetal Immune System | 456 | ||
| Developmental Fetal–Neonatal Immunology | 457 | ||
| Innate Immunity | 457 | ||
| Complement | 457 | ||
| Antimicrobial Proteins and Peptides | 460 | ||
| Innate Lymphoid Cells, Including Natural Killer Cells | 460 | ||
| Polymorphonuclear Neutrophils | 461 | ||
| Monocytes, Macrophages, and Dendritic Cells | 462 | ||
| Adaptive Immunity | 462 | ||
| T Lymphocytes | 462 | ||
| Thymocyte Development | 462 | ||
| Recent Thymic Emigrants and the NaĂŻve T-Cell Compartment | 466 | ||
| NaĂŻve CD4 T-Cell Activation Into Effector Th1, Th2, Th17, and Follicular Helper T Cells | 466 | ||
| Effector CD4 T-Cell Response to Herpes Simplex Virus Infection | 467 | ||
| NaĂŻve CD8 T-Cell Activation Into Cytolytic Effector Cells | 467 | ||
| Antigen-Specific Memory T-Cell Responses | 467 | ||
| Regulatory T Cells | 468 | ||
| γδ T Cells | 468 | ||
| Natural Killer T Cells | 468 | ||
| Mucosal-Associated Invariant T Cells | 469 | ||
| B Lymphocytes | 469 | ||
| B-Cell Development | 469 | ||
| B-Cell Preimmune Selection and Maturation | 471 | ||
| Fetal and Neonatal B-Cell Development and Surface Phenotype | 471 | ||
| B-Cell Activation, Somatic Hypermutation, and Isotype Switching | 471 | ||
| Neonatal Antibody Responses to T-Dependent and T-Independent Antigens | 472 | ||
| Immunoglobulins | 472 | ||
| Immunoglobulin G | 473 | ||
| Immunoglobulin M | 473 | ||
| Immunoglobulin A | 474 | ||
| Immunoglobulin E | 474 | ||
| Immunoglobulin D | 474 | ||
| Polyclonal Immunoglobulin Therapy for Prevention or Treatment of Bacterial Infections | 474 | ||
| Monoclonal Antibody Prophylaxis to Prevent Infection | 475 | ||
| Specific Immunologic Deficiencies of the Newborn and Their Diagnosis | 475 | ||
| Severe Combined Immunodeficiency | 475 | ||
| DiGeorge Syndrome | 477 | ||
| Combined Immune Disorders Involving T Cells and B Cells | 478 | ||
| B-Cell Immunodeficiencies | 478 | ||
| Innate Immune Deficiency Disorders | 478 | ||
| Immunization | 478 | ||
| Maternal Immunization | 478 | ||
| Immunization of the Prematurely Born Infant | 479 | ||
| Neonatal Immunization | 480 | ||
| Acknowledgments | 481 | ||
| Suggested Readings | 481 | ||
| References | 481.e1 | ||
| 37 Viral Infections of the Fetus and Newborn | 482 | ||
| General Diagnostic Approach | 482 | ||
| Herpesviridae | 484 | ||
| Herpes Simplex Virus Infections | 485 | ||
| Virology, Epidemiology, and Clinical Manifestations of Herpes Simplex Virus Disease | 485 | ||
| Neonatal Herpes | 485 | ||
| Diagnosis | 487 | ||
| Treatment and Outcomes | 487 | ||
| Prospects for Prevention | 491 | ||
| Varicella–Zoster Virus | 491 | ||
| Epidemiology of Maternal and Perinatal Varicella–Zoster Virus Infection | 492 | ||
| Pathogenesis and Clinical Manifestations | 492 | ||
| Diagnostic Studies | 493 | ||
| Treatment | 493 | ||
| Prevention | 493 | ||
| Cytomegalovirus | 494 | ||
| Epidemiology | 494 | ||
| Pathogenesis | 495 | ||
| Clinical Presentation, Sequelae, and Prognosis | 495 | ||
| Diagnosis and Infant Assessment | 497 | ||
| Treatment: Antiviral Intervention in the Newborn and the Pregnant Patient | 497 | ||
| Natal Acquisition of Cytomegalovirus Infection: Implications for the Premature Infant | 498 | ||
| Prevention | 499 | ||
| Human Herpesvirus 6 and 7 | 500 | ||
| Kaposi Sarcoma–Associated Herpesvirus and Epstein–Barr Virus | 500 | ||
| Human Parvovirus B19 | 501 | ||
| Epidemiology | 501 | ||
| Pathogenesis | 501 | ||
| Clinical Spectrum | 502 | ||
| Laboratory Evaluation | 502 | ||
| Treatment | 502 | ||
| Prognosis | 503 | ||
| Prevention | 503 | ||
| Rubella | 503 | ||
| Epidemiology | 503 | ||
| Pathogenesis | 504 | ||
| Clinical Spectrum | 504 | ||
| Laboratory Evaluation | 505 | ||
| Treatment and Prognosis | 505 | ||
| Prevention | 505 | ||
| Lymphocytic Choriomeningitis Virus | 506 | ||
| Epidemiology | 506 | ||
| Pathogenesis | 506 | ||
| Clinical Spectrum | 506 | ||
| Laboratory Evaluation | 507 | ||
| Treatment | 507 | ||
| Prognosis | 507 | ||
| Prevention | 507 | ||
| Enteroviruses | 508 | ||
| Epidemiology | 508 | ||
| Etiology and Pathogenesis | 508 | ||
| Clinical Spectrum | 509 | ||
| Laboratory Evaluation | 509 | ||
| Treatment | 510 | ||
| Short-Term and Long-Term Prognosis | 510 | ||
| Prevention | 510 | ||
| Human Parechovirus | 510 | ||
| Zika Virus | 511 | ||
| Epidemiology | 511 | ||
| Pathogenesis | 512 | ||
| Clinical Manifestations | 512 | ||
| Laboratory Evaluation and Diagnostic Studies | 512 | ||
| Treatment | 512 | ||
| Clinical Evaluation and Prognosis | 513 | ||
| Prevention | 513 | ||
| Hepatitis Viruses | 513 | ||
| Hepatitis B Virus | 513 | ||
| Incidence | 513 | ||
| Etiology and Pathogenesis | 514 | ||
| Clinical Spectrum and Laboratory Evaluation | 515 | ||
| Prevention | 515 | ||
| Treatment | 516 | ||
| Prognosis | 516 | ||
| Hepatitis C Virus | 516 | ||
| Incidence | 516 | ||
| Etiology and Pathogenesis | 517 | ||
| Clinical Spectrum and Laboratory Evaluation | 517 | ||
| Treatment | 517 | ||
| Prognosis | 518 | ||
| Prevention | 518 | ||
| Adenovirus | 518 | ||
| Epidemiology and Clinical Manifestations | 518 | ||
| Adenovirus Infections in Newborns | 518 | ||
| Prevention and Intervention | 519 | ||
| Respiratory Viruses | 519 | ||
| Respiratory Syncytial Virus | 519 | ||
| Gastrointestinal Viruses | 520 | ||
| Human Immunodeficiency Virus Infection | 520 | ||
| Introduction | 520 | ||
| Prevention of Mother-to-Child Transmission of Human Immunodeficiency Virus | 521 | ||
| Antepartum | 521 | ||
| Intrapartum | 522 | ||
| Postpartum | 522 | ||
| Treatment of the Human Immunodeficiency Virus–Exposed Infant | 524 | ||
| All Human Immunodeficiency Virus–Exposed Infants | 524 | ||
| Human Immunodeficiency Virus–Infected Infant | 525 | ||
| Summary | 525 | ||
| Suggested Readings | 526 | ||
| References | 526.e1 | ||
| 38 Congenital Toxoplasmosis, Syphilis, Malaria, and Tuberculosis | 527 | ||
| Congenital Toxoplasmosis | 527 | ||
| Epidemiology | 527 | ||
| Pathogenesis, Clinical Presentation, and Natural History | 527 | ||
| Diagnosis | 529 | ||
| Therapy | 530 | ||
| Prognosis | 531 | ||
| Prevention | 531 | ||
| Congenital Syphilis | 532 | ||
| Epidemiology | 532 | ||
| Pathogenesis, Clinical Presentation, and Natural History | 532 | ||
| Diagnosis | 534 | ||
| Treatment | 535 | ||
| Follow-Up | 538 | ||
| Prevention | 538 | ||
| Congenital Malaria | 538 | ||
| Epidemiology | 538 | ||
| Natural History, Pathogenesis, and Clinical Presentation | 540 | ||
| Diagnosis | 543 | ||
| Treatment | 543 | ||
| Prognosis | 544 | ||
| Prevention | 544 | ||
| Congenital Tuberculosis | 545 | ||
| Epidemiology | 545 | ||
| Pathogenesis, Clinical Presentation, and Natural History | 545 | ||
| Diagnosis | 547 | ||
| Treatment and Management | 549 | ||
| Prevention | 550 | ||
| Suggested Readings | 552 | ||
| Congenital Toxoplasmosis | 552 | ||
| Congenital Syphilis | 552 | ||
| Congenital Malaria | 552 | ||
| Congenital Tuberculosis | 552 | ||
| References | 552.e1 | ||
| 39 Newborn Sepsis and Meningitis | 553 | ||
| Pathogenesis of Early-Onset Neonatal Bacterial Infections | 553 | ||
| Epidemiology of Early-Onset Bacterial Infections | 554 | ||
| Bacterial Pathogens in Early-Onset Infections | 554 | ||
| Group B Streptococcal Infections | 554 | ||
| Transmission of Group B Streptococcus From Mothers to Infants | 555 | ||
| Chemoprophylaxis and Intrapartum Antibiotic Therapy | 555 | ||
| Intrapartum Antibiotic Prophylaxis | 555 | ||
| Group B Streptococcal Sepsis in Neonates | 556 | ||
| Escherichia Coli Infections | 556 | ||
| Listeria Monocytogenes Infections | 557 | ||
| Miscellaneous Bacterial Pathogens | 557 | ||
| Clinical Signs of Bacterial Sepsis | 557 | ||
| Laboratory Testing | 557 | ||
| Microbiologic Cultures | 558 | ||
| Blood Cultures | 558 | ||
| Urine Cultures | 558 | ||
| Cerebrospinal Fluid | 558 | ||
| White Blood Cell Count and Neutrophil Indices | 558 | ||
| Platelet Counts | 559 | ||
| Acute-Phase Reactants and Erythrocyte Sedimentation Rate | 559 | ||
| Prevention | 560 | ||
| Intrapartum Management of Parturients | 560 | ||
| Intravenous Immune Globulin for Prevention of Early-Onset Sepsis | 561 | ||
| Diagnostic Approach to Neonates With Suspected Sepsis | 561 | ||
| Treatment | 563 | ||
| Antimicrobial Therapy | 563 | ||
| Immunologic Therapies for Early-Onset Sepsis | 563 | ||
| Neonatal Bacterial Meningitis | 563 | ||
| Pathology and Clinical Manifestations | 564 | ||
| Diagnosis | 564 | ||
| Therapy | 564 | ||
| Prognosis | 565 | ||
| Suggested Readings | 565 | ||
| References | 565.e1 | ||
| 40 Health Care-Associated Infections | 566 | ||
| Health Care–Associated Infection Surveillance and Data Sources | 566 | ||
| Defining and Diagnosing Neonatal Health Care–Associated Infection | 567 | ||
| Definitions of Central Line–Associated Bloodstream Infection, Ventilator-Associated Pneumonia, and Catheter-Associated Urinary Tract Infection | 567 | ||
| Challenges With Central Line–Associated Bloodstream Infection Diagnosis | 567 | ||
| Challenges With Ventilator-Associated Pneumonia Diagnosis | 568 | ||
| Challenges With Urinary Tract Infection Diagnosis | 568 | ||
| Epidemiology of Health Care–Associated Infection | 568 | ||
| Health Care–Associated Infection Epidemiology in the Newborn Nursery | 568 | ||
| Health Care–Associated Infection Epidemiology in the Neonatal Intensive Care Unit | 568 | ||
| Risk Factors for Development of Health Care–Associated Infection | 571 | ||
| Risk Factors Related to Patient Characteristics | 571 | ||
| Risk Factors Caused by Necessary Medical Interventions | 571 | ||
| Risk Factors Associated With the Neonatal Intensive Care Unit and Hospital Environment | 572 | ||
| Health Care–Associated Infection: Distribution by Pathogen | 573 | ||
| Microbial Resistance | 573 | ||
| Gram-Positive Bacteria | 573 | ||
| Coagulase-Negative Staphylococci | 573 | ||
| Staphylococcus aureus | 573 | ||
| Enterococcus | 574 | ||
| Group B Streptococcus | 574 | ||
| Gram-Negative Bacteria | 574 | ||
| Fungi | 574 | ||
| Viruses | 574 | ||
| Respiratory Syncytial Virus | 574 | ||
| Influenza | 575 | ||
| Rotavirus | 575 | ||
| Enterovirus | 575 | ||
| Adverse Outcomes Related to Health Care–Associated Infection | 575 | ||
| Prevention of Health Care–Associated Infection | 576 | ||
| Overall Approach to Infection Control | 576 | ||
| Guidelines for Hand Hygiene Practices | 576 | ||
| Guidelines for Gloves and Gowns | 577 | ||
| Recent Quality Improvement Efforts at Reduction of Health Care–Associated Infection in Neonatal Intensive Care Units | 577 | ||
| Prevention of Central Line–Associated Bloodstream Infection | 578 | ||
| Prevention of Health Care–Associated Pneumonia | 578 | ||
| Other Aspects of Prevention and Management of Health Care–Acquired Infections | 579 | ||
| Skin Care | 579 | ||
| Human Milk Feedings | 579 | ||
| Catheter Removal Following Central Line–Associated Bloodstream Infection | 579 | ||
| Antibiotic and Adjunctive Therapies | 579 | ||
| Conclusion | 579 | ||
| Suggested Readings | 579 | ||
| References | 580.e1 | ||
| 41 Fungal Infections in the Neonatal Intensive Care Unit | 581 | ||
| Epidemiology | 581 | ||
| Infections Caused by Candida Species | 582 | ||
| Congenital Candidiasis | 582 | ||
| Local Infections With Candida Species | 582 | ||
| Diaper Dermatitis | 582 | ||
| Funisitis | 582 | ||
| Urinary Tract Infection | 582 | ||
| Peritonitis | 582 | ||
| Systemic Infection | 583 | ||
| Candidemia Associated With Central Venous Catheters | 583 | ||
| Disseminated Candidiasis | 583 | ||
| Antifungal Therapy for Systemic Infection | 583 | ||
| Antifungal Prophylaxis | 584 | ||
| Infections Ascribable to Other Fungi | 584 | ||
| Invasive Fungal Dermatitis | 584 | ||
| Line Infections Caused by Lipophilic Organisms | 584 | ||
| Miscellaneous Fungal Infections | 585 | ||
| Aspergillus Species | 585 | ||
| Trichosporon beigelii | 585 | ||
| Suggested Readings | 585 | ||
| References | 585.e1 | ||
| X Respiratory System | 586 | ||
| 42 Lung Development | 586 | ||
| Key Events in Lung Development | 586 | ||
| Development of Airways and Gas Exchange Surfaces | 586 | ||
| Composition of Airways and Alveoli | 588 | ||
| Proximal Airways | 588 | ||
| Distal Airways | 588 | ||
| Alveolar Epithelium | 589 | ||
| Surfactant | 589 | ||
| Development of the Pulmonary Vasculature | 591 | ||
| Development of Pulmonary Host Defense | 591 | ||
| Development of Detoxification Systems | 592 | ||
| Mechanisms of Lung Development | 592 | ||
| Branching Morphogenesis | 592 | ||
| Stretch and Mechanotransduction | 593 | ||
| Static Stretch: Fetal Lung Fluid Production | 593 | ||
| Cyclic Stretch: Fetal Breathing Movements | 593 | ||
| Alveolarization | 594 | ||
| Interdependence of Alveolar and Vascular Development | 594 | ||
| Molecular Basis for Lung Development | 594 | ||
| Growth Factors in Lung Development | 594 | ||
| Transcription Factors in Lung Development | 596 | ||
| Novel Concepts in Lung Development | 596 | ||
| Stem/Progenitor Cells in the Lung | 596 | ||
| Epithelial to Mesenchymal Transition | 596 | ||
| Epigenetic Regulation of Lung Development and Maturation | 598 | ||
| Summary | 598 | ||
| Suggested Readings | 598 | ||
| References | 599.e1 | ||
| 43 Control of Breathing | 600 | ||
| Animal Models of Control of Breathing | 600 | ||
| Overview of Respiratory Control | 601 | ||
| Muscles of Respiration | 601 | ||
| Respiratory Rhythmogenesis | 601 | ||
| Neuroanatomy of the Central Respiratory Network | 602 | ||
| Neurochemical Control of Respiration | 603 | ||
| Neurotransmitters | 603 | ||
| Neuromodulators | 605 | ||
| Genetic Mutations Affecting Respiratory Control | 605 | ||
| Peripheral Inputs That Modulate the Central Respiratory Network | 607 | ||
| Bronchopulmonary Reflexes | 607 | ||
| Slowly Adapting Stretch Receptors: Major Modulators of Respiratory Timing | 607 | ||
| Rapidly Adapting Receptors: Cough, Augmented Breaths | 608 | ||
| C-Fiber Receptors: Apnea, Bronchoconstriction, Rapid Shallow Breathing | 608 | ||
| Laryngeal Reflexes | 609 | ||
| Chemical Control of Breathing | 609 | ||
| Central Chemosensitivity | 609 | ||
| Maturation of CO2/H+ Sensitivity of Central Chemoreceptors | 610 | ||
| Peripheral Arterial Chemoreceptors | 611 | ||
| Maturation of CO2/H+ Chemosensitivity of Peripheral Arterial Chemoreceptors | 612 | ||
| Maturation of O2 Sensitivity of Peripheral Arterial Chemoreceptors | 612 | ||
| Hypoxic Ventilatory Depression: Consequences for the Neonate | 612 | ||
| Effect of Sleep State on Breathing | 613 | ||
| Apnea of Prematurity | 613 | ||
| Therapeutic Approaches | 614 | ||
| Continuous Positive Airway Pressure | 614 | ||
| Methylxanthines | 614 | ||
| Gastroesophageal Reflux and Apnea of Prematurity | 615 | ||
| Resolution and Consequences of Neonatal Apnea | 616 | ||
| Suggested Readings | 616 | ||
| References | 617.e1 | ||
| 44 Neonatal Pulmonary Physiology | 618 | ||
| Lung Mechanics and Lung Volumes | 618 | ||
| Elastic Recoil | 618 | ||
| Resistance | 619 | ||
| Inertance | 620 | ||
| Dynamic Interaction | 620 | ||
| Work of Breathing | 620 | ||
| Measurements of Respiratory System Mechanics | 620 | ||
| Alveolar Ventilation | 623 | ||
| Ventilation–Perfusion Relationships | 625 | ||
| Heart–Lung Interaction | 626 | ||
| Effects of the Lung on the Heart | 626 | ||
| Effects of Changes in Intrathoracic Pressure on the Heart | 626 | ||
| Negative Intrathoracic Pressure | 626 | ||
| Positive Intrathoracic Pressure | 627 | ||
| Effect of Lung Inflation on Pulmonary Vascular Resistance | 627 | ||
| Effects of the Heart on the Lung | 628 | ||
| Pulmonary Edema | 628 | ||
| Increased Driving Pressure | 629 | ||
| Increased Permeability | 629 | ||
| Decreased Lymphatic Drainage | 629 | ||
| Alveolar Space | 630 | ||
| Symptoms of Pulmonary Edema | 630 | ||
| Treatment of Pulmonary Edema | 631 | ||
| Suggested Readings | 631 | ||
| References | 631.e1 | ||
| 45 Neonatal Respiratory Therapy | 632 | ||
| Respiratory Monitoring | 632 | ||
| Breathing Frequency, Apnea, and Heart Rate Monitoring | 632 | ||
| Ventilation Monitoring | 632 | ||
| Blood Gas Monitoring | 633 | ||
| Blood Gas Sampling | 633 | ||
| Transcutaneous Blood Gas Monitoring | 633 | ||
| End-Tidal Carbon Dioxide Monitoring | 633 | ||
| Arterial Oxygen Saturation Measured by Pulse Oximetry | 634 | ||
| Oxygen Therapy | 634 | ||
| Principles | 634 | ||
| Methods of Administration | 634 | ||
| Treatment Strategies | 635 | ||
| Noninvasive Respiratory Support | 636 | ||
| Nasal Continuous Positive Airway Pressure | 636 | ||
| Devices for Application of Nasal Continuous Positive Airway Pressure | 637 | ||
| Complications | 637 | ||
| Noninvasive Ventilation | 637 | ||
| Synchronization of Noninvasive Ventilation | 638 | ||
| Potential Drawbacks | 638 | ||
| High-Flow Nasal Cannula | 638 | ||
| Drawbacks | 638 | ||
| Invasive Mechanical Ventilation | 638 | ||
| Indications | 638 | ||
| Inspired Gas Conditioning | 639 | ||
| Conventional Positive Pressure Ventilation | 640 | ||
| Principles | 640 | ||
| Modes of Conventional Positive Pressure Ventilation | 641 | ||
| Intermittent Mandatory Ventilation | 641 | ||
| Synchronized Intermittent Mandatory Ventilation | 642 | ||
| Assist/Control Ventilation | 643 | ||
| Pressure Support Ventilation | 644 | ||
| Volume-Targeted Ventilation | 644 | ||
| Volume-Controlled Ventilation. | 644 | ||
| Pressure-Regulated Volume-Controlled Ventilation. | 644 | ||
| Volume Guarantee Ventilation. | 644 | ||
| Proportional Assist Ventilation | 645 | ||
| Neurally Adjusted Ventilatory Assist | 645 | ||
| Targeted Minute Ventilation | 645 | ||
| High-Frequency Ventilation | 645 | ||
| Gas Transport During High-Frequency Ventilation | 645 | ||
| Devices for High-Frequency Ventilation | 646 | ||
| Ventilator Settings During High-Frequency Ventilation | 646 | ||
| Clinical Use of High-Frequency Ventilation | 646 | ||
| High-Frequency Ventilation in Respiratory Distress Syndrome | 646 | ||
| High-Frequency Ventilation in Persistent Pulmonary Hypertension of the Newborn | 647 | ||
| Other Indications for High-Frequency Ventilation | 647 | ||
| Side Effects of High-Frequency Ventilation | 647 | ||
| Weaning of Infants off Mechanical Ventilation | 647 | ||
| Synchronized Patient-Triggered Ventilation for Weaning | 647 | ||
| Volume Monitoring and Volume-Targeted Ventilation During Weaning | 648 | ||
| Weaning of Infants off High-Frequency Ventilation | 648 | ||
| Permissive Hypercapnia | 648 | ||
| Dead Space Reduction | 648 | ||
| Automated and Computer-Assisted Weaning | 648 | ||
| Extubation | 648 | ||
| Nasal Continuous Positive Airway Pressure and Noninvasive Ventilation for Extubation | 649 | ||
| Respiratory Stimulants for Extubation | 649 | ||
| Acute Complications of Respiratory Support | 649 | ||
| Pulmonary Gas Leaks | 649 | ||
| Pulmonary Interstitial Emphysema | 649 | ||
| Pneumothorax | 650 | ||
| Pneumopericardium | 650 | ||
| Pneumoperitoneum | 650 | ||
| Intravascular Gas | 651 | ||
| Airway Complications | 651 | ||
| Ventilator-Associated Pneumonia | 651 | ||
| Ventilator- and Oxygen-Associated Neurologic Sequelae | 651 | ||
| Future Directions | 651 | ||
| Suggested Readings | 651 | ||
| References | 652.e1 | ||
| 46 Respiratory Disorders in the Preterm Infant | 653 | ||
| Respiratory Distress Syndrome | 653 | ||
| Risk Factors | 653 | ||
| Pathophysiology of Respiratory Distress Syndrome | 653 | ||
| Purpose of Surfactant | 654 | ||
| Origin and Composition of Surfactant | 656 | ||
| Clinical Signs of Respiratory Distress Syndrome | 657 | ||
| XI Cardiovascular System | 724 | ||
| 50 Developmental Biology of the Heart | 724 | ||
| Overview of Cardiac Developmental Anatomy | 724 | ||
| Cell Types Within the Heart and Their Origins | 726 | ||
| Formation of the Embryonic Cardiac Crescent and Heart Tube | 727 | ||
| Looping and Laterality of the Heart Tube | 728 | ||
| Abnormalities in Cardiac Looping | 729 | ||
| Ventricular Inlet Septation: Endocardial Cushions | 730 | ||
| Ventricular Outflow Tract Septation: Endocardial Cushions and Neural Crest | 731 | ||
| Separation of Aorta and Pulmonary Artery: Normal Dextroposition | 733 | ||
| Cardiac Valve Formation | 733 | ||
| Development of the Ventricles and Ventricular Septum | 734 | ||
| Development of the Atria and Atrial Septum | 735 | ||
| Systemic and Pulmonary Vein Development | 736 | ||
| Aortic Arch Development | 737 | ||
| Coronary Arteries | 737 | ||
| Conduction System | 739 | ||
| Physiology of Transition | 739 | ||
| Conclusion | 739 | ||
| Suggested Readings | 740 | ||
| References | 740.e1 | ||
| 51 Cardiovascular Compromise in the Newborn | 741 | ||
| Principles of Developmental Cardiovascular Physiology and Pathophysiology, Phases, and Causes of Neonatal Shock | 743 | ||
| Principles of Oxygen Delivery | 743 | ||
| Developmental Regulation of Cardiac Output and Its Determinants | 746 | ||
| Preload | 746 | ||
| Contractility | 746 | ||
| Afterload | 746 | ||
| Changes in Preload, Contractility, and Afterload During Transition | 746 | ||
| Developmental Regulation of Systemic Blood Pressure | 747 | ||
| Developmental Regulation of Organ Blood Flow and Its Autoregulation and Vital Organ Assignment | 748 | ||
| Cerebral Blood Flow Autoregulation | 748 | ||
| Vital Organ Assignment | 748 | ||
| Developmental Regulation of Cerebral Oxygen Demand–Delivery Coupling | 748 | ||
| Phases of Shock | 749 | ||
| Pathogenesis of Neonatal Shock | 749 | ||
| Etiologic Factors | 749 | ||
| Hypovolemia | 749 | ||
| Myocardial Dysfunction | 750 | ||
| Abnormal Peripheral Vasoregulation | 750 | ||
| Clinical Presentations of Shock in Neonates Associated With Multiple Etiologic Factors | 750 | ||
| Transitional Circulatory Compromise of the Very Preterm Neonate | 750 | ||
| Low Preload and Immediate Umbilical Cord Clamping | 750 | ||
| Myocardial Dysfunction and High Afterload | 751 | ||
| Patent Ductus Arteriosus | 751 | ||
| Respiratory Support and Hemodynamics | 751 | ||
| Ischemia–Reperfusion | 751 | ||
| Vital Organ Assignment | 753 | ||
| Vasopressor-Resistant Hypotension | 754 | ||
| Sepsis | 754 | ||
| Pulmonary Hypertension With or Without Meconium Aspiration Syndrome | 754 | ||
| Diagnosis of Circulatory Compromise | 754 | ||
| Heart Rate and Blood Pressure | 754 | ||
| Capillary Refill Time | 756 | ||
| Core–Peripheral Temperature Difference | 756 | ||
| Low Urine Output and Hyperkalemia | 756 | ||
| Lactic Acid, pH, and Base Excess | 757 | ||
| Organ Blood Flow | 757 | ||
| Near-Infrared Spectroscopy | 757 | ||
| Echocardiographic Systemic Blood Flow Measures | 757 | ||
| Measurement of Systemic Blood Flow by Electrical Impedance Velocimetry | 758 | ||
| Treatment of Neonatal Shock | 758 | ||
| Association Between Systemic Hypotension, Hypoperfusion, and Their Treatment and Mortality or Neurodevelopmental Impairment | 758 | ||
| Volume Administration | 759 | ||
| Dopamine and Dobutamine | 760 | ||
| Hemodynamic Effects of Dopamine | 760 | ||
| Hemodynamic Effects of Dobutamine | 761 | ||
| Dopamine Versus Dobutamine | 761 | ||
| Epithelial and Neuroendocrine Effects | 762 | ||
| Epinephrine, Norepinephrine, and Other Cardiovascular Agents and Hormones | 763 | ||
| Epinephrine | 763 | ||
| Norepinephrine | 763 | ||
| Milrinone | 763 | ||
| Vasopressin | 763 | ||
| Steroid Administration | 764 | ||
| Steroid Administration as Primary or Rescue Treatment | 764 | ||
| Rationale for Hydrocortisone Treatment | 764 | ||
| Clinical Applications of Hydrocortisone | 764 | ||
| Short-Term Side Effects | 765 | ||
| Long-Term Side Effects | 765 | ||
| Supportive Measures | 766 | ||
| Suggested Readings | 767 | ||
| References | 767.e1 | ||
| 52 Persistent Pulmonary Hypertension | 768 | ||
| Normal Fetal Pulmonary Vascular Development and Transition | 768 | ||
| Pathophysiology of Persistent Pulmonary Hypertension of the Newborn | 770 | ||
| Other Causes of Neonatal Pulmonary Hypertension | 772 | ||
| Congenital Diaphragmatic Hernia | 772 | ||
| Alveolar Capillary Dysplasia | 772 | ||
| Pulmonary Hypertension in Premature Infants | 772 | ||
| Clinical Evaluation of Persistent Pulmonary Hypertension of the Newborn | 773 | ||
| General Management | 774 | ||
| Oxygen | 776 | ||
| Inhaled Nitric Oxide | 776 | ||
| Other Therapeutic Agents | 776 | ||
| Phosphodiesterase Inhibitors | 776 | ||
| Prostanoids | 776 | ||
| Endothelin Receptor Antagonists | 777 | ||
| Outcomes | 777 | ||
| Summary | 778 | ||
| Suggested Readings | 778 | ||
| References | 778.e1 | ||
| 53 Fetal and Neonatal Echocardiography | 779 | ||
| Application of Ultrasound to Cardiac Imaging | 779 | ||
| Physics of Ultrasound | 779 | ||
| Basic Imaging Components | 779 | ||
| M-Mode | 779 | ||
| Two-Dimensional Imaging | 780 | ||
| Doppler | 780 | ||
| Neonatal Echocardiography: Goals of Imaging | 782 | ||
| Fetal-to-Neonatal Transitional Physiology: Echocardiographic Assessment | 783 | ||
| Suspected Congenital Heart Disease | 783 | ||
| Assessment of the Ductus Arteriosus | 783 | ||
| Evaluation of Persistent Pulmonary Hypertension | 783 | ||
| Neonatal Imaging Techniques | 784 | ||
| Limitations of Neonatal Echocardiography | 785 | ||
| Fetal Echocardiography: Goals of Imaging | 785 | ||
| Fetal Imaging Techniques | 785 | ||
| Limitations of Fetal Echocardiography | 787 | ||
| Other Cardiovascular Imaging Modalities | 787 | ||
| Transesophageal Echocardiography | 787 | ||
| Intracardiac Echocardiography | 787 | ||
| Three-Dimensional Echocardiography | 788 | ||
| Computed Tomography and Magnetic Resonance Imaging | 788 | ||
| Summary | 788 | ||
| Suggested Readings | 788 | ||
| 54 Patent Ductus Arteriosus in the Preterm Infant | 790 | ||
| Diagnosis | 790 | ||
| Incidence | 791 | ||
| Regulation of Ductus Arteriosus Patency | 791 | ||
| Balance Between Vasoconstriction and Vasorelaxation | 791 | ||
| In Utero Regulation | 791 | ||
| Postnatal Regulation | 792 | ||
| Developmental Regulation | 793 | ||
| Genetic Regulation | 794 | ||
| Anatomic Closure—Histologic Changes | 794 | ||
| Relationship Between Vasoconstriction and Anatomic Closure | 795 | ||
| Hemodynamic and Pulmonary Alterations | 796 | ||
| Treatment | 797 | ||
| Treatment Options for Closing a PDA | 797 | ||
| Indomethacin and Intracranial Hemorrhage | 798 | ||
| PDA and Neonatal Morbidity: To Close or Not to Close | 799 | ||
| A Personalized Approach | 799 | ||
| Suggested Readings | 799 | ||
| References | 800.e1 | ||
| 55 Congenital Heart Disease | 801 | ||
| General Considerations | 801 | ||
| Fetal-to-Postnatal Transition | 801 | ||
| Nomenclature | 802 | ||
| Clinical Evaluation of the Newborn | 803 | ||
| Laboratory Assessment of the Neonate | 803 | ||
| Genetics and Congenital Heart Disease | 804 | ||
| Heart Transplantation | 805 | ||
| Ventricular Assist Devices | 806 | ||
| Murmurs in the Newborn—Congenital Cardiac Lesions | 806 | ||
| Patent Ductus Arteriosus and Aortopulmonary Window | 806 | ||
| Ventricular Septal Defect | 806 | ||
| Atrial Septal Defects | 808 | ||
| Atrioventricular Septal Defects | 809 | ||
| Peripheral Pulmonic Stenosis | 810 | ||
| Pulmonic Stenosis | 810 | ||
| Aortic Stenosis | 811 | ||
| Cyanosis in the Newborn | 811 | ||
| Transposition of the Great Arteries | 811 | ||
| Double Outlet Right Ventricle | 812 | ||
| Truncus Arteriosus | 812 | ||
| Total Anomalous Pulmonary Venous Return | 814 | ||
| Tetralogy of Fallot | 815 | ||
| Tetralogy of Fallot Absent Pulmonary Valve | 815 | ||
| Pulmonary Atresia With Intact Ventricular Septum | 816 | ||
| Tricuspid Atresia | 818 | ||
| Ebstein Anomaly of the Tricuspid Valve | 818 | ||
| Lesions That Present Primarily With Heart Failure | 819 | ||
| Hypoplastic Left Heart Syndrome | 819 | ||
| Obstructed Total Anomalous Pulmonary Venous Return | 820 | ||
| Cor Triatriatum | 822 | ||
| Mitral Stenosis | 822 | ||
| Critical Aortic Stenosis | 823 | ||
| Coarctation of the Aorta | 823 | ||
| Interrupted Aortic Arch | 824 | ||
| Anomalous Origin of the Left Coronary Artery From the Pulmonary Artery | 825 | ||
| Systemic Arterial Malformations | 825 | ||
| Cardiomyopathy | 826 | ||
| Suggested Readings | 827 | ||
| References | 827.e1 | ||
| 56 Perinatal Arrhythmias | 828 | ||
| Conduction System of the Human Heart | 828 | ||
| Sinus Node | 828 | ||
| Atrioventricular Node | 828 | ||
| His–Purkinje System | 829 | ||
| Abnormalities in Cardiac Conduction | 829 | ||
| First-Degree Atrioventricular Block | 829 | ||
| Second-Degree Atrioventricular Block | 829 | ||
| Third-Degree Atrioventricular Block | 829 | ||
| Ventricular Preexcitation | 829 | ||
| Abnormalities in Cardiac Rhythm | 829 | ||
| Ectopic Beats | 830 | ||
| Premature Atrial Complexes | 830 | ||
| Premature Ventricular Complexes | 830 | ||
| Tachyarrhythmias | 830 | ||
| Orthodromic Reciprocating Tachycardia | 830 | ||
| Permanent Form of Junctional Reciprocating Tachycardia | 832 | ||
| Atrial Ectopic Tachycardia | 832 | ||
| Junctional Ectopic Tachycardia | 833 | ||
| Neonatal Atrial Flutter | 833 | ||
| Ventricular Tachycardia | 833 | ||
| Management Considerations for Neonatal Tachyarrhythmias | 834 | ||
| Bradyarrhythmias | 835 | ||
| Blocked Premature Atrial Complex | 835 | ||
| Long QT Syndrome | 835 | ||
| Congenital Complete Atrioventricular Block | 836 | ||
| Fetal Rhythms | 837 | ||
| Benign Arrhythmias | 838 | ||
| Management of Benign Arrhythmias | 838 | ||
| Fetal Tachycardias | 838 | ||
| Orthodromic Reentrant Tachycardia | 838 | ||
| Atrial Flutter | 838 | ||
| Sustained Ventricular Tachycardia | 840 | ||
| Rare Tachycardias | 841 | ||
| Sinus Tachycardia | 841 | ||
| Arrhythmia Medications | 841 | ||
| Fetal Bradycardia | 841 | ||
| Benign Fetal Bradycardia | 841 | ||
| Ion Channelopathies | 841 | ||
| Atrioventricular Block | 842 | ||
| Suggested Readings | 843 | ||
| References | 843.e1 | ||
| 57 Long-Term Neurologic Outcomes in Children With Congenital Heart Disease | 844 | ||
| Structural and Developmental Abnormalities of the Brain in Congenital Heart Disease | 844 | ||
| Fetal Circulation in Congenital Heart Disease: Effects on Cerebral Blood Flow | 844 | ||
| Preoperative Evidence of Delayed Brain Development by Magnetic Resonance Imaging | 846 | ||
| Fetal Brain Magnetic Resonance Imaging Identifies Developmental Abnormalities in Congenital Heart Disease | 846 | ||
| Trajectory of Brain Development in Congenital Heart Disease | 847 | ||
| Acquired Brain Injury With Congenital Heart Disease: Characteristics and Risk Factors | 847 | ||
| Risk Factors for Preoperative Brain Injury | 847 | ||
| Risk Factors for Intraoperative Brain Injury | 847 | ||
| Risk Factors for Postoperative Brain Injury | 849 | ||
| Brain Immaturity as a Risk Factor for Brain Injury | 850 | ||
| Neurodevelopmental Outcomes | 850 | ||
| Immediate Neurologic Outcomes After Surgical Repair | 850 | ||
| Short-Term and Long-Term Neurologic Outcomes After Surgical Repair | 850 | ||
| Genetic Susceptibility to Neurodevelopmental Abnormalities | 850 | ||
| Neurodevelopmental Signature of Congenital Heart Disease | 851 | ||
| Conclusions | 851 | ||
| Suggested Readings | 851 | ||
| References | 851.e1 | ||
| XII Neurologic System | 852 | ||
| 58 Central Nervous System Development | 852 | ||
| Neuronal Production and Migration | 852 | ||
| Programmed Neuronal Death | 854 | ||
| Organization of the Central Nervous System | 854 | ||
| Subplate Neurons | 854 | ||
| Axonal and Dendritic Growth | 854 | ||
| Synaptogenesis | 854 | ||
| Glial Proliferation, Differentiation, and Myelination | 855 | ||
| Astrocytes | 855 | ||
| Oligodendrocytes and Myelination | 855 | ||
| Microglia | 855 | ||
| The Environment and Epigenetics | 855 | ||
| Suggested Readings | 856 | ||
| References | 856.e1 | ||
| 59 Congenital Malformations of the Central Nervous System | 857 | ||
| Prosencephalic Cleavage and Related Events | 857 | ||
| Normal Prosencephalic Development | 857 | ||
| Disorders of Structures Derived From the Prosencephalon | 857 | ||
| Aprosencephaly and Atelencephaly | 857 | ||
| Holoprosencephaly | 858 | ||
| Diagnosis | 859 | ||
| Clinical Features | 860 | ||
| Epidemiology and Etiology | 860 | ||
| Genotype–Phenotype Variability | 860 | ||
| Environmental Factors | 860 | ||
| Agenesis of the Corpus Callosum | 860 | ||
| XIII Nutrition | 991 | ||
| 67 Breastfeeding | 991 | ||
| Rates of Breastfeeding in the United States | 991 | ||
| Interventions to Support Breastfeeding Initiation, Exclusivity, and Continuation | 992 | ||
| The Evidence to Support Breastfeeding | 994 | ||
| Studies Supporting Benefits of Breastfeeding | 994 | ||
| Nutritional Aspects | 994 | ||
| Nutritional Implications for the Premature Infant | 996 | ||
| Host Defense: Prevention of Infections | 996 | ||
| Chronic Conditions of Childhood | 999 | ||
| Neurobehavioral Aspects | 1000 | ||
| Infant and Childhood Mortality | 1000 | ||
| Maternal Benefits | 1000 | ||
| Societal Impact of Breastfeeding | 1001 | ||
| Contraindications to Breastfeeding | 1001 | ||
| Anatomy and Physiology of Lactation | 1001 | ||
| Management of Breastfeeding | 1003 | ||
| Hospital Care | 1003 | ||
| Initial Management | 1003 | ||
| Latch On | 1003 | ||
| The First 2 Weeks to 2 Months | 1004 | ||
| Growth of the Breastfed Infant | 1004 | ||
| Tongue Tie | 1004 | ||
| Breastfeeding the Late Preterm Infant | 1005 | ||
| Breastfeeding the Very Low Birth Weight Premature Infant | 1005 | ||
| Maternal Breastfeeding Issues | 1005 | ||
| Nipple Pain | 1005 | ||
| Engorgement and Blocked Ducts | 1005 | ||
| Mastitis | 1005 | ||
| Low Milk Supply | 1005 | ||
| Contraception | 1006 | ||
| Maternal Employment Outside the Home | 1006 | ||
| Jaundice and Breastfeeding | 1006 | ||
| Breast-Nonfeeding Jaundice | 1006 | ||
| Breast Milk Jaundice | 1007 | ||
| Collection and Storage of Human Milk | 1007 | ||
| Donor Human Milk | 1007 | ||
| Conclusion | 1008 | ||
| Suggested Readings | 1008 | ||
| Suggested Educational Resources on the Web | 1008 | ||
| References | 1008.e1 | ||
| 68 Enteral Nutrition for the High-Risk Neonate | 1009 | ||
| Macronutrient Requirements | 1009 | ||
| Protein | 1009 | ||
| Energy | 1010 | ||
| Carbohydrates | 1010 | ||
| Fat | 1010 | ||
| Micronutrients, Vitamins, Minerals, and Trace Element Requirements | 1011 | ||
| Calcium and Phosphorus | 1011 | ||
| Magnesium | 1011 | ||
| Trace Elements | 1011 | ||
| Zinc | 1011 | ||
| Copper | 1012 | ||
| Selenium | 1012 | ||
| Iron | 1012 | ||
| Sodium and Potassium | 1012 | ||
| Vitamins | 1013 | ||
| Vitamin A | 1013 | ||
| Vitamin D | 1013 | ||
| Vitamin E | 1013 | ||
| Vitamin K | 1013 | ||
| Options for Enteral Nutrition | 1013 | ||
| Human Milk | 1014 | ||
| Maternal Milk | 1014 | ||
| Human Milk Nutrient Content | 1014 | ||
| Protein | 1014 | ||
| Fat | 1015 | ||
| Carbohydrate | 1015 | ||
| Essential Fatty Acids | 1015 | ||
| Carnitine | 1015 | ||
| Human Milk Enzymes | 1015 | ||
| Vitamins and Minerals | 1015 | ||
| Donor Human Milk | 1015 | ||
| Differences Between Maternal and Donor Human Milk | 1017 | ||
| Initiation, Mode, and Advancement of Enteral Feedings | 1017 | ||
| Tube Feeding | 1017 | ||
| Human Milk Fortification | 1018 | ||
| Standard Fortification | 1018 | ||
| Adjustable Fortification | 1019 | ||
| Target (or Individualized) Fortification | 1019 | ||
| Infant Nutrition and Growth | 1019 | ||
| Assessing Growth and Body Composition in Infants | 1020 | ||
| Growth and Developmental Outcomes in Preterm Infants | 1020 | ||
| Postdischarge Nutrition for the Premature Infant | 1021 | ||
| Suggested Readings | 1021 | ||
| References | 1022.e1 | ||
| 69 Parenteral Nutrition for the High-Risk Neonate | 1023 | ||
| Components of Parenteral Nutrition | 1023 | ||
| Protein | 1023 | ||
| Energy | 1025 | ||
| Glucose | 1025 | ||
| Lipids | 1026 | ||
| Electrolytes, Minerals, Trace Elements, and Vitamins | 1027 | ||
| Complications of Parenteral Nutrition | 1028 | ||
| Use of Parenteral Nutrition in the Neonatal Intensive Care Unit: A Practical Approach | 1029 | ||
| Acknowledgment | 1030 | ||
| Suggested Readings | 1030 | ||
| References | 1031.e1 | ||
| XIV Gastrointestinal System | 1032 | ||
| 70 Gastrointestinal Tract Development | 1032 | ||
| Structural and Functional Development | 1032 | ||
| Foregut | 1032 | ||
| Esophagus | 1032 | ||
| Stomach | 1032 | ||
| Liver and Pancreas | 1033 | ||
| Midgut and Hindgut | 1034 | ||
| Small Intestine | 1034 | ||
| Colon | 1035 | ||
| Mucosal Immune System Development | 1036 | ||
| Gastrointestinal Microbiota | 1036 | ||
| Digestive Physiology | 1037 | ||
| Carbohydrate Digestion | 1037 | ||
| Protein Digestion | 1037 | ||
| Fat Digestion | 1037 | ||
| Suggested Readings | 1037 | ||
| References | 1038.e1 | ||
| 71 Structural Anomalies of the Gastrointestinal Tract | 1039 | ||
| Disorders of the Oral Cavity | 1039 | ||
| Mouth | 1039 | ||
| Tongue | 1040 | ||
| Salivary Glands | 1040 | ||
| Disorders of the Neck | 1040 | ||
| Branchial Anomalies | 1041 | ||
| Thyroid | 1041 | ||
| Other Neck Masses | 1041 | ||
| Disorders of the Esophagus | 1042 | ||
| Esophageal Atresia | 1042 | ||
| Epidemiology | 1042 | ||
| Etiology and Associated Anomalies | 1042 | ||
| Classification | 1042 | ||
| Diagnosis | 1042 | ||
| Preoperative Management | 1043 | ||
| Operation | 1043 | ||
| Postoperative Management | 1044 | ||
| Outcomes | 1044 | ||
| Laryngotracheoesophageal Cleft | 1044 | ||
| Congenital Esophageal Stenosis | 1045 | ||
| Esophageal Duplication Cyst | 1045 | ||
| Esophageal Perforation | 1045 | ||
| Disorders of the Stomach | 1046 | ||
| Pyloric Atresia | 1046 | ||
| Gastric Duplication | 1047 | ||
| Pyloric Stenosis | 1047 | ||
| Gastric Perforation | 1047 | ||
| Disorders of the Intestine | 1048 | ||
| Malrotation and Volvulus | 1048 | ||
| Intestinal Atresia | 1049 | ||
| Duodenal Atresia | 1049 | ||
| Jejunoileal and Colon Atresia | 1050 | ||
| Meconium Ileus | 1050 | ||
| Enteric Duplication Cysts | 1051 | ||
| Intussusception | 1051 | ||
| Disorders of the Colon | 1051 | ||
| Neonatal Appendicitis | 1051 | ||
| Hirschsprung Disease | 1051 | ||
| Meconium Plug | 1052 | ||
| Anorectal Disorders | 1052 | ||
| Suggested Readings | 1053 | ||
| References | 1053.e1 | ||
| 72 Innate and Mucosal Immunity in the Developing Gastrointestinal Tract | 1054 | ||
| Development of the Gastrointestinal Tract | 1054 | ||
| Fetal Development | 1054 | ||
| Role of Amniotic Fluid in Early Gastrointestinal Development | 1055 | ||
| Mucosal Immunity in the Developing Gastrointestinal Tract | 1056 | ||
| Physical and Chemical Barriers | 1057 | ||
| Epithelial Cell Layer and Tight Junctions | 1058 | ||
| Specialized Epithelial Immune Cells | 1059 | ||
| Monocytes, Macrophages, Dendritic Cells, and Mast Cells | 1059 | ||
| Gut-Associated Lymphoid Tissue and Adaptive Immunity | 1060 | ||
| Antigen Sampling and Presentation | 1060 | ||
| Microfold Cell and Dendritic Cell Pathway | 1060 | ||
| Receptor-Mediated Endocytosis and Processing: Toll-Like and Nucleotide-Binding Oligomerization Domain Receptors | 1060 | ||
| T-Helper 1/T-Helper 2 Polarization | 1061 | ||
| Exogenous Exposures and Their Impact on Innate Intestinal Immune Defenses | 1061 | ||
| Bacterial Colonization | 1061 | ||
| Mode of Delivery | 1062 | ||
| Diet | 1062 | ||
| Environment | 1063 | ||
| Antibiotic Use | 1063 | ||
| The Intestinal Microbiota, Gut Immunity, and Inflammation | 1063 | ||
| Diet: Human Milk and Infant Formula | 1063 | ||
| Impact of Altered Mucosal Immunity on Early and Later Disease | 1064 | ||
| Prematurity and Necrotizing Enterocolitis | 1064 | ||
| Inadequate Physical and Chemical Barriers | 1064 | ||
| Abnormal Colonization of the Preterm Gut | 1064 | ||
| Necrotizing Enterocolitis | 1065 | ||
| Atopic Diseases | 1065 | ||
| Inflammatory Bowel Disease, Celiac Disease, and Type 1 Diabetes | 1066 | ||
| Obesity | 1067 | ||
| Conclusion | 1067 | ||
| Acknowledgements | 1067 | ||
| Suggested Readings | 1067 | ||
| References | 1067.e1 | ||
| 73 Abdominal Wall Defects | 1068 | ||
| Umbilical Cord Abnormalities | 1068 | ||
| Noncoiled Umbilical Cord | 1068 | ||
| Single Umbilical Artery | 1068 | ||
| Umbilical Vessel Dilatations | 1068 | ||
| Umbilical Cord Cysts | 1069 | ||
| Umbilical Cord Hematomas | 1069 | ||
| Umbilical Abnormalities | 1069 | ||
| Delayed Separation of the Umbilical Cord | 1069 | ||
| Umbilical and Periumbilical Infections | 1069 | ||
| Umbilical Granulomas | 1069 | ||
| Persistent Remnants of Urachus and Omphalomesenteric Duct | 1069 | ||
| Abdominal Wall Defects | 1070 | ||
| Gastroschisis | 1071 | ||
| Omphalocele | 1074 | ||
| Other Abdominal Wall Defects | 1075 | ||
| Body Stalk Anomaly | 1075 | ||
| Bladder Exstrophy | 1076 | ||
| Cloacal Exstrophy | 1076 | ||
| Prune Belly Syndrome | 1076 | ||
| Abdominal Wall Hernias | 1076 | ||
| Diastasis Recti | 1076 | ||
| Epigastric Hernia | 1076 | ||
| Umbilical Hernia | 1076 | ||
| Inguinal Hernia and Hydrocele | 1077 | ||
| Suggested Readings | 1077 | ||
| References | 1078.e1 | ||
| 74 Neonatal Gastroesophageal Reflux | 1079 | ||
| Background | 1079 | ||
| Normal Anatomy and Physiology | 1079 | ||
| Abnormal Physiology: Gastroesophageal Reflux Disease | 1079 | ||
| Diagnosis | 1080 | ||
| Objective Measures | 1080 | ||
| 24-Hour pH Monitoring | 1080 | ||
| 24-Hour Combined pH and Multichannel Intraluminal Impedance | 1080 | ||
| Manometry | 1080 | ||
| Gastric Scintigraphy | 1080 | ||
| Upper Gastrointestinal Series | 1080 | ||
| Indications for Medical and Surgical Management of Gastroesophageal Reflux Disease | 1081 | ||
| Options for Interventions | 1081 | ||
| Pharmacologic Agents | 1081 | ||
| Surgical Intervention | 1082 | ||
| Conclusion | 1082 | ||
| Suggested Readings | 1082 | ||
| References | 1082.e1 | ||
| 75 The Intestinal Microbiome | 1083 | ||
| Historical Perspectives | 1083 | ||
| Beyond Culture | 1083 | ||
| Technologies | 1083 | ||
| Other “Omics” | 1084 | ||
| Actions of the Intestinal Microbiome | 1085 | ||
| Intestinal Inflammation and Immune Function | 1085 | ||
| The Bioreactor Function | 1085 | ||
| Development of the Intestinal Microbiome | 1086 | ||
| The Nonsterile Fetal Environment | 1086 | ||
| Maternal Intestinal Host–Microbial Interactions | 1087 | ||
| The Fetal–Maternal Microbiome Source | 1087 | ||
| The Infant Microbiome | 1088 | ||
| Mode of Delivery | 1088 | ||
| Intestine-Derived Inflammation | 1088 | ||
| Total Parenteral Nutrition | 1088 | ||
| Effect of Diet | 1088 | ||
| Effects of Antibiotics on Intestinal Microbiota | 1088 | ||
| Effects of H2 Blockers | 1088 | ||
| Summary | 1088 | ||
| Suggested Readings | 1089 | ||
| References | 1089.e1 | ||
| 76 Necrotizing Enterocolitis and Short Bowel Syndrome | 1090 | ||
| Necrotizing Enterocolitis | 1090 | ||
| Epidemiology | 1090 | ||
| Risk Factors | 1090 | ||
| Prematurity and Low Birth Weight | 1090 | ||
| Formula Feeding | 1091 | ||
| Congenital Heart Disease | 1091 | ||
| Blood Transfusions | 1091 | ||
| Infectious Agents | 1091 | ||
| Pathogenesis | 1091 | ||
| Bowel Ischemia | 1091 | ||
| Abnormal Bacterial Colonization | 1091 | ||
| Impaired Gut Barrier Function and Proinflammatory Response | 1091 | ||
| Clinical Presentation | 1092 | ||
| Treatment | 1094 | ||
| Medical Management | 1094 | ||
| Surgical Management | 1094 | ||
| Laparotomy Versus Peritoneal Drain Placement | 1094 | ||
| Surgical Options | 1095 | ||
| Outcomes | 1095 | ||
| Prevention | 1095 | ||
| Exclusive Use of Human Milk | 1095 | ||
| Probiotics | 1096 | ||
| Short Bowel Syndrome | 1096 | ||
| Suggested Readings | 1097 | ||
| References | 1097.e1 | ||
| 77 Disorders of the Liver | 1098 | ||
| Introduction to Neonatal Liver Disease | 1098 | ||
| Cholestatic Liver Disease | 1099 | ||
| Biliary Atresia | 1100 | ||
| Alagille Syndrome (Arteriohepatic Dysplasia) | 1101 | ||
| α-1 Antitrypsin Deficiency | 1102 | ||
| Cystic Fibrosis Liver Disease | 1103 | ||
| Disorders of Bile Acid Synthesis | 1103 | ||
| Progressive Familial Intrahepatic Cholestasis | 1103 | ||
| Congenital Hepatic Fibrosis | 1104 | ||
| Infections | 1104 | ||
| Parenteral Nutrition–Associated Liver Disease | 1104 | ||
| Metabolic Liver Disease | 1104 | ||
| Disorders of Carbohydrate Metabolism | 1104 | ||
| Galactosemia | 1104 | ||
| Hereditary Fructose Intolerance | 1105 | ||
| Glycogen Storage Diseases | 1106 | ||
| Disorders of Amino Acid Metabolism | 1106 | ||
| Tyrosinemia Type 1 | 1106 | ||
| Maple Syrup Urine Disease | 1106 | ||
| Disorders of Organic Acid Metabolism | 1107 | ||
| Fatty Acid Oxidation Defects | 1107 | ||
| Urea Cycle Defects | 1107 | ||
| Mitochondrial Hepatopathies | 1107 | ||
| Lysosomal Storage Disorders | 1107 | ||
| Gestational Alloimmune Liver Disease | 1108 | ||
| Vascular Malformations | 1108 | ||
| Arteriovenous Malformations | 1109 | ||
| Congenital Portosystemic Shunts | 1109 | ||
| Hereditary Hemorrhagic Telangiectasia | 1109 | ||
| Infantile Hepatic Hemangiomas | 1111 | ||
| Liver Masses | 1112 | ||
| Hepatoblastoma | 1112 | ||
| Congenital Hepatic Cysts | 1112 | ||
| Suggested Readings | 1112 | ||
| References | 1112.e1 | ||
| XV Hematologic System and Disorders of Bilirubin Metabolism | 1113 | ||
| 78 Developmental Hematology | 1113 | ||
| Introduction to Embryonic Hematopoiesis | 1113 | ||
| Stem Cell Biology | 1113 | ||
| Developmental Aspects of Erythropoiesis | 1114 | ||
| Primitive and Definitive Erythropoiesis | 1114 | ||
| Switch of the Primary Site of Erythropoiesis | 1115 | ||
| Yolk Sac | 1115 | ||
| Aortogonadomesonephron | 1116 | ||
| Liver | 1116 | ||
| Bone Marrow | 1116 | ||
| Factors Influencing the Sites of Erythropoiesis | 1116 | ||
| Extramedullary Hematopoiesis | 1116 | ||
| Ontogeny of Erythrocytes | 1116 | ||
| Developmental Changes in the Regulation of Erythropoiesis | 1117 | ||
| Ontogeny, Organization, and Structure of Hemoglobins | 1117 | ||
| Changes in Hemoglobin Synthesis With Development | 1117 | ||
| Red Blood Cell Transfusion | 1117 | ||
| Bilirubin Metabolism | 1118 | ||
| Developmental Aspects of Megakaryocytopoiesis | 1118 | ||
| Sites of Megakaryocyte Production | 1118 | ||
| Megakaryocyte Precursors | 1119 | ||
| Control of Megakaryocytopoiesis | 1119 | ||
| Thrombopoietin | 1119 | ||
| Developmental Changes in Platelet Count | 1119 | ||
| Platelet Transfusions | 1119 | ||
| Developmental Aspects of Granulocytopoiesis | 1120 | ||
| Overview of Hematopoietic Cytokines | 1120 | ||
| Acknowledgment | 1120 | ||
| Suggested Readings | 1120 | ||
| References | 1120.e1 | ||
| 79 Neonatal Bleeding and Thrombotic Disorders | 1121 | ||
| The Neonatal Hemostatic System | 1121 | ||
| Developmental Hemostasis | 1121 | ||
| Bleeding Disorders in the Neonate | 1122 | ||
| Laboratory Investigation | 1123 | ||
| Hemophilia | 1123 | ||
| von Willebrand Disease | 1124 | ||
| Other Rare Inherited Coagulation Disorders | 1124 | ||
| Acquired Coagulation Disorders | 1125 | ||
| Vitamin K Deficiency | 1125 | ||
| Disseminated Intravascular Coagulation | 1125 | ||
| Liver Disease | 1126 | ||
| Neonatal Thrombosis | 1126 | ||
| Epidemiology | 1126 | ||
| Risk Factors for Neonatal Thromboembolism | 1126 | ||
| Prothrombotic Disorders: Pathophysiology and Their Role in Neonatal Thromboembolism | 1126 | ||
| Locations of Neonatal Thromboses, Imaging Modalities to Diagnose Them, and Management Guidelines for Specific Thromboses | 1127 | ||
| Arterial Thromboses | 1127 | ||
| Perinatal Arterial Ischemic Stroke | 1127 | ||
| Iatrogenic/Spontaneous Arterial Thromboses | 1129 | ||
| Venous Thrombosis | 1130 | ||
| Catheter-Related Thrombosis (Umbilical Venous Catheters and Peripherally Inserted Central Venous Catheters) | 1130 | ||
| Intracardiac Thromboses and Thromboses in Infants With Complex Congenital Heart Disease | 1132 | ||
| Renal Vein Thrombosis | 1133 | ||
| Portal Vein Thrombosis | 1133 | ||
| Cerebral Sinovenous Thrombosis | 1133 | ||
| Prothrombotic Laboratory Evaluation for Clinically Symptomatic Neonatal Thromboses | 1134 | ||
| Management of Thrombosis | 1135 | ||
| Unfractionated Heparin | 1136 | ||
| Low-Molecular-Weight Heparin | 1137 | ||
| Recombinant Tissue Type Plasminogen Activator | 1137 | ||
| Surgery | 1138 | ||
| New Anticoagulants | 1138 | ||
| Conclusion | 1138 | ||
| Suggested Readings | 1138 | ||
| References | 1138.e1 | ||
| 80 Neonatal Platelet Disorders | 1139 | ||
| Fetal and Neonatal Platelet Production | 1139 | ||
| Platelet Counts During Development and Reference Ranges | 1139 | ||
| Platelet Function and Primary Hemostasis | 1139 | ||
| Thrombocytosis in the Neonate | 1141 | ||
| Thrombocytopenia in the Neonate | 1141 | ||
| Approach to the Thrombocytopenic Neonate—Evaluation and Classification | 1141 | ||
| Early-Onset Thrombocytopenia (Fig. 80.2, Box 80.1) | 1141 | ||
| Late-Onset Thrombocytopenia (Fig. 80.3, Box 80.1) | 1143 | ||
| Immune Thrombocytopenia | 1144 | ||
| Neonatal Alloimmune Thrombocytopenia | 1144 | ||
| Laboratory Investigation | 1144 | ||
| Management | 1144 | ||
| Management of the Neonate With Suspected Neonatal Alloimmune Thrombocytopenia (Pregnancy Unknown to the Mother) | 1144 | ||
| Management of the Neonate With Known Neonatal Alloimmune Thrombocytopenia | 1145 | ||
| Management of Pregnant Women With Previous History of Neonatal Alloimmune Thrombocytopenia | 1145 | ||
| Autoimmune Thrombocytopenia | 1145 | ||
| Maternal Management | 1146 | ||
| Congenital Thrombocytopenias | 1146 | ||
| Management of Neonatal Thrombocytopenia | 1147 | ||
| Platelet Transfusions in the Neonatal Intensive Care Unit | 1147 | ||
| Alternative Tests to Guide Platelet Transfusions | 1149 | ||
| Nontransfusional Therapies | 1149 | ||
| Platelet Function Disorders | 1149 | ||
| Etiology/Pathophysiology | 1149 | ||
| Clinical Presentation | 1150 | ||
| Diagnosis | 1150 | ||
| Treatment | 1151 | ||
| Suggested Readings | 1151 | ||
| References | 1151.e1 | ||
| 81 Neonatal Erythrocyte Disorders | 1152 | ||
| Reference Intervals | 1152 | ||
| Neonatal Anemia | 1158 | ||
| Anemia Caused by Failure of Erythrocyte Production | 1159 | ||
| Anemia of Prematurity | 1159 | ||
| The “Late” Anemia of Rhesus Hemolytic Disease | 1160 | ||
| Neonatal Iron Deficiency | 1160 | ||
| Diamond–Blackfan Anemia and Somewhat Related Conditions | 1161 | ||
| Neonatal Anemia Caused by Hemorrhage | 1161 | ||
| Prenatal Hemorrhage | 1161 | ||
| Perinatal Hemorrhage | 1163 | ||
| Postnatal Hemorrhage | 1164 | ||
| Anemia Caused by Hemolysis | 1165 | ||
| Immune-Mediated Hemolytic Disease of the Neonate | 1165 | ||
| Rhesus | 1165 | ||
| ABO | 1168 | ||
| Kell | 1169 | ||
| Kidd | 1169 | ||
| Duffy | 1169 | ||
| MNS | 1169 | ||
| Maternal Disease | 1169 | ||
| Nonimmune-Mediated, Acquired Hemolytic Disease of the Neonate | 1169 | ||
| Hereditary Hemolytic Anemias Caused by Red Blood Cell Cytoskeletal Mutations | 1169 | ||
| Hereditary Spherocytosis | 1169 | ||
| Hereditary Elliptocytosis | 1173 | ||
| Hereditary Pyropoikilocytosis | 1173 | ||
| Hereditary Hemolytic Anemias Caused by Red Blood Cell Enzyme Abnormalities | 1173 | ||
| Glucose 6-Phosphate Dehydrogenase Deficiency | 1174 | ||
| Pyruvate Kinase Deficiency | 1174 | ||
| Neonatal Hemolysis Associated With Unstable Hemoglobins | 1174 | ||
| Neonatal Hemolysis Associated With Alpha or Gamma Thalassemia | 1174 | ||
| Alpha Thalassemia | 1175 | ||
| Gamma Thalassemia | 1175 | ||
| Neonatal Polycythemia/Hyperviscosity and Methemoglobinemia | 1175 | ||
| Polycythemia/Hyperviscosity | 1175 | ||
| Methemoglobinemia | 1176 | ||
| Treatment Considerations | 1177 | ||
| Treatment of Anemia | 1177 | ||
| Treatment of Hyperviscosity | 1179 | ||
| Suggested Readings | 1179 | ||
| References | 1179.e1 | ||
| 82 Neonatal Transfusion | 1180 | ||
| Overview | 1180 | ||
| Red Blood Cell Transfusion | 1180 | ||
| Component | 1180 | ||
| Preparation | 1180 | ||
| Indications | 1181 | ||
| Risks of Red Blood Cell Transfusion | 1182 | ||
| Immunologic Complications | 1182 | ||
| Transfusion-Related Acute Lung Injury | 1183 | ||
| Nonimmunologic Complications | 1183 | ||
| Infection | 1183 | ||
| Transfusion-Associated Circulatory Overload | 1183 | ||
| Hypothermia | 1183 | ||
| Metabolite Derangements | 1183 | ||
| Fatal Transfusion Reactions | 1183 | ||
| Platelet Transfusion | 1184 | ||
| Component | 1184 | ||
| XVI Neoplasia | 1219 | ||
| 85 Congenital Malignant Disorders | 1219 | ||
| Epidemiology, Etiology, and Diagnosis of Neonatal Malignancy | 1219 | ||
| Epidemiology: Incidence and Mortality | 1219 | ||
| Etiology | 1219 | ||
| Genetic Predisposition Syndromes and Congenital Defects | 1219 | ||
| Transplacental Tumor Passage | 1222 | ||
| Twin-to-Twin Transmission | 1222 | ||
| Environmental Factors | 1222 | ||
| Diagnosis and Evaluation | 1222 | ||
| Specific Neoplasms | 1222 | ||
| Neuroblastoma | 1222 | ||
| Overview | 1222 | ||
| Etiology | 1222 | ||
| Presentation | 1223 | ||
| Unusual Presentations | 1224 | ||
| Catecholamine Secretion | 1225 | ||
| Diagnosis | 1225 | ||
| Pathologic Classification | 1225 | ||
| Genetic Prognostic Factors: Tumor Biology | 1225 | ||
| Staging | 1226 | ||
| Treatment | 1226 | ||
| Prenatal Diagnosis | 1227 | ||
| Newborn Screening | 1227 | ||
| Congenital Leukemia | 1227 | ||
| Epidemiology | 1227 | ||
| Clinical Manifestations | 1227 | ||
| Laboratory Manifestations | 1227 | ||
| Differential Diagnosis | 1227 | ||
| Cellular Morphology and Immunophenotype | 1228 | ||
| Genetics | 1228 | ||
| Treatment and Prognosis | 1229 | ||
| Transient Myeloproliferative Disorders and Leukemia in Patients With Down Syndrome | 1229 | ||
| Transient Myeloproliferative Disorder | 1229 | ||
| Germ Cell Tumors | 1230 | ||
| Pathology | 1230 | ||
| Evaluation | 1230 | ||
| Sacrococcygeal Teratomas | 1230 | ||
| Differential Diagnosis | 1230 | ||
| Treatment | 1230 | ||
| Renal Neoplasms | 1231 | ||
| Congenital Mesoblastic Nephroma | 1231 | ||
| Wilms Tumor | 1231 | ||
| Clinical Manifestations | 1231 | ||
| Hereditary Associations and Congenital Anomalies | 1231 | ||
| Prognostic Factors | 1232 | ||
| Evaluation and Staging | 1232 | ||
| Treatment | 1232 | ||
| Rhabdoid Tumor of the Kidney | 1232 | ||
| Persistent Nephrogenic Rests and Nephroblastomatosis | 1232 | ||
| Retinoblastoma | 1232 | ||
| Genetics | 1232 | ||
| XVII Renal and Genitourinary Systems | 1238 | ||
| 86 Renal Development | 1238 | ||
| Factors Influencing Organogenesis | 1238 | ||
| Development of the Renal Vascular Bed | 1239 | ||
| Renal Morphogenesis | 1239 | ||
| Glomerular Development | 1243 | ||
| Ureteral Growth and Development | 1245 | ||
| Renin–Angiotensin System Interaction for Programing Fetal Development | 1247 | ||
| Fetal Programing of Renal Function and Perinatal Environmental Factors Influence Development of Renal Function and Adult Renal Disease | 1247 | ||
| Conclusion | 1249 | ||
| Suggested Readings | 1249 | ||
| 87 Developmental Abnormalities of the Kidneys | 1250 | ||
| Abnormalities of Kidney Number | 1250 | ||
| Unilateral Renal Agenesis | 1250 | ||
| Bilateral Renal Agenesis | 1251 | ||
| Abnormalities of Renal Position | 1251 | ||
| Ectopic Kidney | 1251 | ||
| Horseshoe Kidney | 1252 | ||
| Abnormalities of Renal Organization | 1252 | ||
| Multicystic Dysplastic Kidney | 1252 | ||
| Isolated Renal Dysplasia | 1253 | ||
| Renal Coloboma Syndrome | 1253 | ||
| Brachio–Oto–Renal Syndrome | 1253 | ||
| Hypothyroidism–Deafness–Renal Dysplasia Syndrome | 1253 | ||
| VACTERL | 1253 | ||
| Eagle–Barrett Syndrome | 1253 | ||
| Abnormalities With Renal Overgrowth | 1255 | ||
| Abnormalities Predominated by Renal Cysts | 1255 | ||
| Ciliopathies | 1255 | ||
| Autosomal Recessive Polycystic Kidney Disease | 1255 | ||
| Autosomal Dominant Polycystic Kidney Disease | 1256 | ||
| Tuberous Sclerosis Complex | 1256 | ||
| Bardet–Biedl Syndrome | 1257 | ||
| Jeune Syndrome | 1257 | ||
| Nephronophthisis | 1257 | ||
| Meckel–Gruber Syndrome | 1257 | ||
| Joubert Syndrome and Joubert-Related Disorders | 1257 | ||
| Orofaciodigital Syndrome | 1258 | ||
| Cranioectodermal Dysplasia | 1258 | ||
| Renal–Hepatic–Pancreatic Dysplasia | 1258 | ||
| Glomerulocystic Kidney Disease | 1258 | ||
| Renal Tubular Dysgenesis | 1258 | ||
| Renal Teratogens | 1258 | ||
| Inborn Errors of Metabolism | 1259 | ||
| Multiple Acyl-CoA Dehydrogenase Deficiency | 1259 | ||
| Smith–Lemli–Opitz Syndrome | 1259 | ||
| Zellweger Syndrome | 1259 | ||
| Congenital Disorders of Glycosylation | 1259 | ||
| Acknowledgments | 1259 | ||
| Suggested Readings | 1259 | ||
| References | 1259.e1 | ||
| 88 Developmental Abnormalities of the Genitourinary System | 1260 | ||
| Early Kidney and Urinary Tract Embryologic Development | 1260 | ||
| Anomalies of the Kidney | 1261 | ||
| Renal Agenesis | 1261 | ||
| Renal Ectopia and Fusion | 1262 | ||
| Supernumerary Kidney | 1262 | ||
| Cystic Disease of the Kidney | 1262 | ||
| Renal Tumors | 1263 | ||
| Renal Vein Thrombosis | 1264 | ||
| Adrenal Hemorrhage | 1264 | ||
| Anomalies of the Ureters | 1264 | ||
| Duplication of the Ureters | 1264 | ||
| Ureteral Ectopia | 1264 | ||
| Ureterocele | 1264 | ||
| Ureteropelvic Junction Obstruction | 1265 | ||
| Ureterovesical Obstruction | 1266 | ||
| Vesicoureteral Reflux | 1266 | ||
| Anomalies of the Bladder | 1266 | ||
| Bladder Exstrophy | 1266 | ||
| Cloacal Exstrophy | 1267 | ||
| Patent Urachus | 1267 | ||
| Posterior Urethral Valves | 1268 | ||
| Genital Abnormalities in Males | 1268 | ||
| Cryptorchidism | 1268 | ||
| Hypospadias and Chordee | 1269 | ||
| Other Penile Anomalies | 1269 | ||
| Webbed Penis | 1269 | ||
| Buried Penis | 1269 | ||
| Micropenis | 1269 | ||
| Aphallia | 1270 | ||
| Epispadias | 1270 | ||
| Urethral Duplication | 1270 | ||
| Differences in Sex Development | 1270 | ||
| Phimosis | 1270 | ||
| Testicular Tumors | 1270 | ||
| Testicular Torsion | 1271 | ||
| Urinary Tract Infections | 1271 | ||
| Myelodysplasia | 1271 | ||
| Prune-Belly Syndrome | 1271 | ||
| Anorectal Malformation | 1271 | ||
| Female Genital Anomalies | 1271 | ||
| Female Genital Tract Development | 1271 | ||
| Hydrocolpos and Hydrometrocolpos | 1272 | ||
| Vaginal Agenesis | 1272 | ||
| Cloacal Anomalies and Urogenital Sinus | 1273 | ||
| MĂĽllerian Duplication Anomalies | 1273 | ||
| Introital Masses in Children | 1273 | ||
| References | 1273.e1 | ||
| 89 Clinical Evaluation of Renal and Urinary Tract Disease | 1274 | ||
| Prenatal Evaluation of Renal and Urinary Tract Disease | 1274 | ||
| Prenatal Diagnosis | 1274 | ||
| Prenatal Renal Ultrasound | 1274 | ||
| Fetal Magnetic Resonance Imaging | 1275 | ||
| Amniotic Fluid and Chorionic Villus Sampling | 1275 | ||
| Prenatal Management of Renal and Urinary Tract Disease | 1276 | ||
| Goals of Management and Prognostic Factors | 1276 | ||
| Interventions | 1276 | ||
| Postnatal Evaluation of Renal and Urinary Tract Disease | 1276 | ||
| Prenatal and Perinatal History | 1276 | ||
| Family History | 1276 | ||
| Physical Examination | 1276 | ||
| Hypertension | 1276 | ||
| Micturition | 1277 | ||
| Abdominal Masses | 1277 | ||
| Edema | 1277 | ||
| Ascites | 1277 | ||
| Laboratory Tests | 1277 | ||
| Serum Estimates of Glomerular Filtration Rate | 1277 | ||
| Other Serum Chemistries | 1277 | ||
| Urine | 1278 | ||
| Urinary Tract Infection | 1278 | ||
| Concentrating/Diluting | 1278 | ||
| Proteinuria | 1278 | ||
| Other Urinary Findings (Hematuria, Hemoglobinuria, Myoglobinuria, Uricosuria) | 1278 | ||
| Imaging | 1278 | ||
| Renal Ultrasound | 1278 | ||
| Computed Tomography Scan | 1279 | ||
| Magnetic Resonance Imaging | 1279 | ||
| Voiding Cystourethrography | 1279 | ||
| Nuclear Medicine | 1279 | ||
| Suggested Readings | 1279 | ||
| References | 1279.e1 | ||
| 90 Acute Kidney Injury and Chronic Kidney Disease | 1280 | ||
| Acute Kidney Injury | 1280 | ||
| Epidemiology | 1282 | ||
| Infants With Perinatal Asphyxia | 1282 | ||
| Infants Undergoing Cardiac Pulmonary Bypass Surgery | 1283 | ||
| Infants Requiring Extracorporeal Membrane Oxygenation | 1283 | ||
| Very Low Birth Weight and Extremely Low Birth Weight Neonates | 1283 | ||
| Pathophysiology of Neonatal Acute Kidney Injury | 1283 | ||
| Prerenal | 1283 | ||
| Intrinsic Acute Kidney Injury | 1284 | ||
| Ischemic Acute Kidney Injury | 1284 | ||
| Nephrotoxic Acute Kidney Injury | 1285 | ||
| Postrenal Acute Kidney Injury | 1286 | ||
| Evaluation and Management of Neonatal Acute Kidney Injury | 1286 | ||
| Step 1: Understand the Cause of Acute Kidney Injury | 1286 | ||
| Step 2: Intervene to Preserve or Prevent Further Acute Kidney Injury | 1287 | ||
| Step 3: Provide Renal Support | 1288 | ||
| Renal Support Therapy With Dialysis | 1289 | ||
| Indications for Dialysis Initiation | 1289 | ||
| Access | 1289 | ||
| Peritoneal Dialysis | 1290 | ||
| Hemodialysis | 1290 | ||
| Acute Kidney Injury as a Cause of Long-Term Chronic Kidney Disease | 1290 | ||
| Renal Vascular Disease in the Newborn | 1291 | ||
| Renal Arterial Thrombus | 1291 | ||
| Incidence and Etiology | 1291 | ||
| Clinical Presentation | 1291 | ||
| Diagnosis | 1291 | ||
| Treatment | 1291 | ||
| Prognosis | 1292 | ||
| Renal Vein Thrombosis | 1292 | ||
| Incidence and Etiology | 1292 | ||
| Clinical Presentation | 1292 | ||
| Diagnosis | 1292 | ||
| Treatment | 1292 | ||
| Prognosis | 1293 | ||
| Renal Cortical and Medullary Necrosis | 1293 | ||
| Incidence and Etiology | 1293 | ||
| Pathophysiology | 1293 | ||
| Clinical Presentation | 1293 | ||
| Diagnosis | 1293 | ||
| Management and Prognosis | 1293 | ||
| Chronic Kidney Disease | 1293 | ||
| Epidemiology | 1293 | ||
| Clinical Sequelae | 1294 | ||
| Pathophysiology of Anemia | 1294 | ||
| Management of Anemia | 1294 | ||
| Growth and Development | 1295 | ||
| Nutrition | 1295 | ||
| Nutritional Assessment | 1295 | ||
| Nutritional Management | 1296 | ||
| Acid–Base and Electrolytes | 1296 | ||
| Renal Osteodystrophy | 1298 | ||
| Renal Replacement Therapy | 1298 | ||
| Peritoneal Dialysis | 1298 | ||
| Hemodialysis | 1298 | ||
| Transplantation | 1298 | ||
| Outcomes | 1298 | ||
| Hospitalization | 1298 | ||
| Survival | 1299 | ||
| Ethics of Initiating or Withdrawing Renal Replacement Therapy | 1300 | ||
| Suggested Readings | 1300 | ||
| References | 1300.e1 | ||
| 91 Glomerulonephropathies and Disorders of Tubular Function | 1301 | ||
| Glomerulonephropathies | 1301 | ||
| Congenital Nephrotic Syndrome | 1301 | ||
| Primary Congenital Nephrotic Syndromes | 1301 | ||
| Finnish-Type Congenital Nephrotic Syndrome (MIM | 1301 | ||
| Congenital Nephrotic Syndrome Type 2 (MIM | 1302 | ||
| Wilms Tumor Suppressor Gene Mutation Syndromes (MIM | 1302 | ||
| Pierson Syndrome (MIM | 1302 | ||
| Other Primary Causes of Congenital Nephrotic Syndrome (MIM | 1302 | ||
| Management of Primary Congenital Nephrotic Syndromes | 1303 | ||
| Secondary Causes of Congenital Nephrotic Syndrome | 1304 | ||
| Other Glomerular Diseases | 1304 | ||
| Renal Tubular Disorders | 1304 | ||
| Renal Tubular Acidosis | 1304 | ||
| Fanconi Syndrome | 1304 | ||
| Nephropathic Cystinosis (MIM | 1305 | ||
| Other Causes of Fanconi Sydrome | 1305 | ||
| Isolated Proximal Renal Tubular Acidosis (Type 2 RTA) | 1305 | ||
| Distal Renal Tubular Acidosis (Type 1 RTA) | 1305 | ||
| Hyperkalemic Tubulopathies (Type 4 RTA) | 1305 | ||
| Hypoaldosteronism | 1305 | ||
| Pseudohypoaldosteronism Type 1 | 1305 | ||
| Gordon Syndrome (Pseudohypoaldosteronism Type 2) | 1306 | ||
| Hypokalemic Tubulopathies | 1306 | ||
| Bartter Syndrome (MIM | 1306 | ||
| Gitelman Syndrome (MIM | 1306 | ||
| Liddle Syndrome (MIM | 1306 | ||
| Other Tubulopathies | 1306 | ||
| Nephrogenic Diabetes Insipidus (MIM | 1306 | ||
| Suggested Readings | 1307 | ||
| References | 1307.e1 | ||
| 92 Urinary Tract Infections and Vesicoureteral Reflux | 1308 | ||
| Urinary Tract Infection | 1308 | ||
| Epidemiology | 1308 | ||
| Pathophysiology | 1308 | ||
| Presentation | 1309 | ||
| Bacteriology | 1309 | ||
| Risk Factors | 1309 | ||
| Diagnosis | 1310 | ||
| Urine Sample | 1310 | ||
| Imaging | 1311 | ||
| Treatment of Urinary Tract Infection | 1311 | ||
| Antibiotic Resistance | 1312 | ||
| Treatment of Vesicoureteral Reflux | 1312 | ||
| Continuous Antibiotic Prophylaxis | 1312 | ||
| Conclusion | 1313 | ||
| Suggested Readings | 1313 | ||
| References | 1313.e1 | ||
| 93 Neonatal Hypertension | 1314 | ||
| Factors That Influence Neonatal Blood Pressure | 1314 | ||
| Definition of Hypertension | 1314 | ||
| Incidence of Hypertension | 1315 | ||
| Etiology and Pathophysiology | 1315 | ||
| Renovascular Causes | 1316 | ||
| Bronchopulmonary Dysplasia | 1317 | ||
| Congenital and Acquired Renal Disease | 1318 | ||
| Genetic Causes | 1319 | ||
| Miscellaneous Causes | 1319 | ||
| Diagnostic Evaluation | 1320 | ||
| Blood Pressure Measurement | 1320 | ||
| History and Physical Examination | 1320 | ||
| Diagnostic Testing | 1320 | ||
| Treatment | 1321 | ||
| Prognosis | 1322 | ||
| Suggested Readings | 1322 | ||
| References | 1323.e1 | ||
| XVIII Endocrine Disorders | 1324 | ||
| 94 Developmental Endocrinology | 1324 | ||
| Endocrine Systems | 1324 | ||
| Endocrine Organ Development and Perinatal Transition | 1325 | ||
| The Maternal–Placental–Fetal Unit | 1325 | ||
| Hypothalamic and Pituitary Development | 1326 | ||
| Diseases of Hypothalamic or Pituitary Maldevelopment | 1328 | ||
| Adrenal Gland Development | 1328 | ||
| Thyroid Gland Development | 1329 | ||
| Reproductive Axis Development | 1329 | ||
| Development of the Endocrine Pancreas | 1330 | ||
| Development of the Parathyroid Glands and Fetal Mineral Homeostasis | 1330 | ||
| Hormonal Regulation of Fetal Growth | 1331 | ||
| Insulin | 1331 | ||
| Insulin-Like Growth Factor 1 | 1331 | ||
| Insulin-Like Growth Factor 2 | 1331 | ||
| Epidermal Growth Factor–Transforming Growth Factor System | 1331 | ||
| Placental Factors | 1331 | ||
| Developmental Origin of Health and Disease | 1331 | ||
| Suggested Readings | 1332 | ||
| References | 1332.e1 | ||
| 95 Disorders of Calcium and Phosphorus Metabolism | 1333 | ||
| Homeostatic Control of Calcium and Magnesium | 1333 | ||
| Homeostatic Control of Phosphorus | 1334 | ||
| Parathyroid–Renal Hormonal Axis | 1334 | ||
| Parathyroid Hormones | 1334 | ||
| Vitamin D | 1335 | ||
| Calcitonin | 1336 | ||
| Perinatal Mineral Metabolism | 1336 | ||
| Pregnancy | 1337 | ||
| The Neonate | 1337 | ||
| Neonatal Hypocalcemia | 1337 | ||
| Clinical Findings | 1338 | ||
| Early Neonatal Hypocalcemia | 1338 | ||
| Late Neonatal Hypocalcemia | 1339 | ||
| Hypocalcemia Caused by Hypoparathyroid Syndromes | 1339 | ||
| Neonatal Hypocalcemia Associated With Maternal Hyperparathyroidism | 1341 | ||
| Neonatal Hypocalcemia Associated With Hypomagnesemia or Renal Tubular Acidosis | 1341 | ||
| Hypocalcemia Resulting From Vitamin D Disorders | 1341 | ||
| Phosphate-Induced Hypocalcemia | 1342 | ||
| Other Causes of Neonatal Hypocalcemia | 1342 | ||
| Treatment | 1342 | ||
| Hypocalcemic Crisis. | 1343 | ||
| Nonemergency Treatment. | 1343 | ||
| Magnesium Administration. | 1343 | ||
| Vitamin D Treatment. | 1343 | ||
| Recombinant Parathyroid Hormone Analogue. | 1343 | ||
| Neonatal Hypercalcemia | 1343 | ||
| Neonatal Hyperparathyroid Syndromes Associated With CaSR Mutations | 1344 | ||
| Neonatal Hyperparathyroidism Not Associated With CASR mutations | 1345 | ||
| Williams Syndrome and Idiopathic Infantile Hypercalcemia | 1345 | ||
| Neonatal Hypercalcemia Associated With Subcutaneous Fat Necrosis | 1345 | ||
| Hypercalcemia Due to Iatrogenic Causes | 1346 | ||
| Other Causes of Neonatal Hypercalcemia | 1346 | ||
| Treatment | 1346 | ||
| Neonatal Disorders of Serum Magnesium | 1346 | ||
| Metabolic Bone Disease in Newborns and Infants | 1347 | ||
| Metabolic Bone Disease of Prematurity | 1347 | ||
| Clinical Findings of Metabolic Bone Disease of Prematurity | 1348 | ||
| Mineral Deficiency in Metabolic Bone Disease | 1348 | ||
| Imaging for Metabolic Bone Disease | 1348 | ||
| Laboratory Evaluation | 1349 | ||
| Vitamin D–Deficiency Rickets | 1349 | ||
| Renal Osteodystrophy | 1349 | ||
| Inherited Metabolic Bone Disease in Infancy | 1350 | ||
| Suggested Readings | 1350 | ||
| References | 1350.e1 | ||
| 96 Disorders of the Adrenal Gland | 1351 | ||
| The Adrenal Gland | 1351 | ||
| Embryology | 1351 | ||
| Morphology | 1351 | ||
| Fetal and Adult Adrenal Functions | 1351 | ||
| Control of Glucocorticoid and Mineralocorticoid Production | 1354 | ||
| Molecular Basis of Adrenal Development | 1354 | ||
| Assessing Adrenal Function in the Newborn | 1355 | ||
| Primary Adrenal Disorders | 1355 | ||
| Steroidogenic Defects Caused by Adrenal Enzyme Deficiency | 1355 | ||
| Disorders That Lead to Virilization in Females | 1355 | ||
| 21-Hydroxylase Deficiency | 1355 | ||
| Pathophysiology. | 1355 | ||
| Clinical Signs and Symptoms. | 1356 | ||
| Epidemiology. | 1356 | ||
| Molecular Genetics. | 1356 | ||
| Management Issues. | 1356 | ||
| 11β-Hydroxylase Deficiency | 1357 | ||
| XIX Craniofacial and Orthopedic Conditions | 1417 | ||
| 100 Craniofacial Malformations | 1417 | ||
| Micrognathia/Robin Sequence | 1417 | ||
| Epidemiology | 1417 | ||
| Phenotype | 1417 | ||
| Intensive Care Unit Concerns | 1417 | ||
| Management | 1420 | ||
| Stickler Syndrome | 1421 | ||
| Orofacial Clefting | 1421 | ||
| Epidemiology | 1421 | ||
| Anatomy | 1422 | ||
| Phenotype | 1422 | ||
| ICU Concerns | 1423 | ||
| Management | 1423 | ||
| Syndromes Associated With Cleft Lip and/or Palate | 1423 | ||
| 22q11.2 Deletion Syndrome | 1424 | ||
| Epidemiology and Genetics | 1424 | ||
| Phenotype | 1424 | ||
| Evaluation and Management | 1424 | ||
| Craniosynostosis | 1424 | ||
| Definitions/Epidemiology | 1424 | ||
| Single Suture Synostosis | 1425 | ||
| Multiple Suture Synostosis | 1426 | ||
| ICU Concerns | 1428 | ||
| Evaluation | 1429 | ||
| Management | 1430 | ||
| Disorders of the First and Second Branchial Arches | 1430 | ||
| Craniofacial Microsomia | 1430 | ||
| Epidemiology and Genetics | 1430 | ||
| Phenotype | 1430 | ||
| Other Branchial Arch Malformations | 1431 | ||
| Moebius Syndrome | 1431 | ||
| Treacher Collins Syndrome | 1431 | ||
| Intensive Care Unit Concerns | 1431 | ||
| Management | 1432 | ||
| CHARGE Syndrome | 1433 | ||
| Epidemiology and Genetics | 1433 | ||
| Phenotype | 1433 | ||
| Intensive Care Unit Concerns | 1433 | ||
| Management | 1434 | ||
| Macroglossia/Beckwith– Wiedemann Syndrome | 1434 | ||
| Epidemiology and Genetics | 1434 | ||
| Phenotype | 1434 | ||
| Intensive Care Unit Concerns | 1434 | ||
| Management | 1435 | ||
| Frontonasal Dysplasia, Hypertelorism, Encephalocele | 1435 | ||
| Embryology | 1435 | ||
| Phenotype and Genetics | 1435 | ||
| Intensive Care Unit Concerns | 1436 | ||
| Management | 1436 | ||
| Prenatal Screening for Fetal Face Anomalies | 1436 | ||
| Suggested Readings | 1437 | ||
| References | 1437.e1 | ||
| 101 Common Neonatal Orthopedic Conditions | 1438 | ||
| Developmental Dysplasia of the Hip | 1438 | ||
| Torticollis | 1440 | ||
| Foot Deformities | 1442 | ||
| Torsional and Angular Deformities of the Lower Extremities | 1444 | ||
| Congenital Vertebral Malformations | 1446 | ||
| Obstetric Trauma | 1447 | ||
| Neonatal Osteomyelitis and Septic Arthritis | 1448 | ||
| Suggested Readings | 1449 | ||
| References | 1449.e1 | ||
| 102 Skeletal Dysplasias and Heritable Connective Tissue Disorders | 1450 | ||
| Clinical Spectra of Disorders With Common Molecular Bases | 1450 | ||
| Approach to Diagnosis | 1450 | ||
| Clinical and Molecular Evaluation | 1452 | ||
| Disorders of Bone Fragility | 1454 | ||
| Osteogenesis Imperfecta Types II and III | 1454 | ||
| Presentation | 1454 | ||
| Radiographic Features | 1454 | ||
| Etiology | 1455 | ||
| Inheritance | 1455 | ||
| XX Dermatologic Conditions | 1468 | ||
| 103 Newborn Skin Development | 1468 | ||
| Epidermis | 1468 | ||
| Dermoepidermal Junction | 1468 | ||
| Dermis and Subcutis | 1469 | ||
| Appendages | 1469 | ||
| Specialized Skin Cells | 1469 | ||
| Epidermal Stem Cells | 1470 | ||
| Impact of Prematurity | 1470 | ||
| Care of Newborn Skin | 1470 | ||
| Morphologic Approach to Skin Pathology | 1471 | ||
| Collodion Membrane | 1471 | ||
| Vesicopustular and Bullous Eruptions | 1472 | ||
| Blueberry Muffin Baby | 1472 | ||
| Erythroderma | 1473 | ||
| Birthmarks With Neurologic Implications | 1473 | ||
| Suggested Readings | 1474 | ||
| References | 1474.e1 | ||
| 104 Congenital and Hereditary Disorders of the Skin | 1475 | ||
| Ichthyoses | 1475 | ||
| Collodion Baby | 1475 | ||
| Autosomal Recessive Congenital Ichthyosis: Harlequin Ichthyosis, Lamellar Ichthyosis, and Nonbullous Congenital Ichthyosiform Erythroderma | 1476 | ||
| Epidermolytic Ichthyosis | 1481 | ||
| Diagnosis of Ichthyoses | 1481 | ||
| Prognosis and Treatment of Ichthyoses | 1482 | ||
| Epidermolysis Bullosa | 1482 | ||
| Classification of Epidermolysis Bullosa | 1482 | ||
| Epidermolysis Bullosa Simplex | 1482 | ||
| Junctional Epidermolysis Bullosa | 1482 | ||
| Dystrophic Epidermolysis Bullosa | 1483 | ||
| Diagnosis of Epidermolysis Bullosa | 1485 | ||
| Management of Epidermolysis Bullosa | 1485 | ||
| Incontinentia Pigmenti | 1486 | ||
| Cutaneous Findings | 1486 | ||
| Extracutaneous Findings | 1486 | ||
| Diagnosis | 1486 | ||
| Prognosis and Treatment | 1487 | ||
| Focal Dermal Hypoplasia (Goltz Syndrome) | 1487 | ||
| Ehlers–Danlos Syndrome | 1487 | ||
| Cutis Laxa | 1488 | ||
| Ectodermal Dysplasias | 1488 | ||
| Hypohidrotic Ectodermal Dysplasia | 1488 | ||
| Management of Ectodermal Dysplasias | 1489 | ||
| Disorders With Generalized Hypopigmentation | 1490 | ||
| Diagnosis of Oculocutaneous Albinism | 1490 | ||
| Treatment of Oculocutaneous Albinism | 1490 | ||
| Disorders With Localized Hypopigmentation | 1491 | ||
| Piebaldism | 1491 | ||
| Porphyrias | 1492 | ||
| Congenital Erythropoietic Porphyria | 1492 | ||
| Erythropoietic Protoporphyria and X-Linked Erythropoietic Protoporphyria | 1493 | ||
| Hepatoerythropoietic Porphyria | 1494 | ||
| Suggested Readings | 1494 | ||
| References | 1494.e1 | ||
| 105 Infections of the Skin | 1495 | ||
| Staphylococcus aureus Infections | 1495 | ||
| Impetigo | 1495 | ||
| Clinical Findings | 1495 | ||
| Etiology | 1495 | ||
| Diagnosis | 1495 | ||
| Treatment | 1495 | ||
| Staphylococcal Scalded Skin Syndrome | 1496 | ||
| Clinical Findings | 1496 | ||
| Etiology | 1496 | ||
| XXI Eyes and Ears | 1536 | ||
| 108 Eye and Vision Disorders | 1536 | ||
| General Examination Techniques | 1536 | ||
| The Newborn Eye Examination: Approach and Equipment | 1536 | ||
| Inspection (the I in I-ARM) | 1538 | ||
| Acuity and Visual Development (the A in I-ARM) | 1539 | ||
| Pupillary Response and the Red Reflex (the R in I-ARM) | 1540 | ||
| Motility and Alignment (the M in I-ARM) | 1540 | ||
| Common Diagnostic Problems | 1542 | ||
| Leukocoria and Abnormal Red Reflex | 1542 | ||
| Cataract | 1542 | ||
| Retinoblastoma | 1543 | ||
| Persistent Hyperplastic Primary Vitreous (Persistent Fetal Vasculature) | 1543 | ||
| Coloboma | 1544 | ||
| Corneal Clouding | 1544 | ||
| Red Eye/Eye Discharge | 1545 | ||
| Motility Abnormalities and Nystagmus | 1546 | ||
| Ptosis and Other Eyelid and Lacrimal Abnormalities | 1547 | ||
| Ocular Trauma in the Neonatal Period | 1548 | ||
| Retinal Hemorrhages and Abusive Head Injury | 1549 | ||
| Retinopathy of Prematurity | 1550 | ||
| Classification of Retinopathy of Prematurity | 1551 | ||
| Prevalence and Incidence of Retinopathy of Prematurity | 1552 | ||
| Pathogenesis of Retinopathy of Prematurity | 1552 | ||
| Prediction of Retinopathy of Prematurity | 1552 | ||
| Prevention of Retinopathy of Prematurity | 1552 | ||
| Detection of Serious Disease | 1553 | ||
| Telemedicine and Retinopathy of Prematurity | 1553 | ||
| Treatment of Retinopathy of Prematurity | 1554 | ||
| Common Ophthalmic Manifestations of Systemic Diseases | 1554 | ||
| Role of the Neonatal Healthcare Provider | 1554 | ||
| Suggested Readings | 1557 | ||
| References | 1557.e1 | ||
| 109 Ear and Hearing Disorders | 1558 | ||
| Normal Hearing | 1558 | ||
| Permanent Hearing Loss—The Challenge | 1558 | ||
| Hearing Disorders | 1558 | ||
| Methods for Newborn Hearing Screening | 1559 | ||
| Risk Factors for Permanent Hearing Loss in Infants and Children (Table 109.4) | 1560 | ||
| Family Factors | 1561 | ||
| Risk Factor 1 | 1561 | ||
| Risk Factor 2 | 1561 | ||
| Neonatal | 1561 | ||
| Risk Factor 3 | 1561 | ||
| Risk Factor 4 | 1561 | ||
| Stigmata, Syndromes, and Neurodegenerative Disorders | 1561 | ||
| Risk Factors 5 and 6 | 1561 | ||
| Risk Factors 7 and 8 | 1561 | ||
| Neonatal or Postneonatal | 1562 | ||
| Risk Factors 9, 10, and 11 | 1562 | ||
| Risk Factor 9 | 1562 | ||
| Risk Factors 10 and 11 | 1562 | ||
| After Newborn Hearing Screening: Audiology Diagnostic Protocols | 1562 | ||
| Medical Workup for Hearing Loss | 1562 | ||
| Multidisciplinary Team | 1562 | ||
| Communication Options | 1563 | ||
| Amplification | 1563 | ||
| Hearing Aids | 1563 | ||
| Frequency-Modulated Systems | 1563 | ||
| Cochlear Implants | 1563 | ||
| Comprehensive Early Intervention | 1563 | ||
| Neonatal Intensive Care Unit Infants and Hearing Loss | 1564 | ||
| The Brain, Language Outcomes, and Access to Language | 1565 | ||
| Suggested Readings | 1566 | ||
| References | 1566.e1 | ||
| Index | 1567 | ||
| A | 1567 | ||
| B | 1570 | ||
| C | 1573 | ||
| D | 1578 | ||
| E | 1580 | ||
| F | 1583 | ||
| G | 1585 | ||
| H | 1588 | ||
| I | 1594 | ||
| J | 1597 | ||
| K | 1597 | ||
| L | 1597 | ||
| M | 1599 | ||
| N | 1603 | ||
| O | 1607 | ||
| P | 1608 | ||
| Q | 1614 | ||
| R | 1614 | ||
| S | 1616 | ||
| T | 1620 | ||
| U | 1623 | ||
| V | 1624 | ||
| W | 1626 | ||
| X | 1627 | ||
| Y | 1627 | ||
| Z | 1627 | ||
| Inside Back Cover | IBC1 |