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Fanaroff and Martin's Neonatal-Perinatal Medicine E-Book

Fanaroff and Martin's Neonatal-Perinatal Medicine E-Book

Richard J. Martin | Avroy A. Fanaroff | Michele C. Walsh

(2014)

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Book Details

Abstract

Tackle your toughest challenges and improve the quality of life and long-term outcomes of your patients with authoritative guidance from Fanaroff and Martin’s Neonatal-Perinatal Medicine. Drs. Richard J. Martin, Avroy A. Fanaroff, and Michele C. Walsh and a contributing team of leading experts in the field deliver a multi-disciplinary approach to the management and evidence-based treatment of problems in the mother, fetus and neonate. New chapters, expanded and updated coverage, increased worldwide perspectives, and many new contributors keep you current on the late preterm infant, the fetal origins of adult disease, neonatal anemia, genetic disorders, and more.

"...a valuable reference book and a pleasure to read." Reviewed by BACCH Newsletter, Mar 2015

  • Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability.
  • Be certain with expert, dependable, accurate answers for every stage of your career from the most comprehensive, multi-disciplinary text in the field!
  • See nuance and detail in full-color illustrations that depict disorders in the clinical setting and explain complex information.
  • Obtain more global perspectives and best practices with contributions from international leaders in the field of neonatal-perinatal medicine.
  • Get comprehensive guidance on treating patients through a dual focus on neonatology and perinatology. Spot genetic problems early and advise parents of concerns, with a completely new section on this topic.
  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.
  • Stay at the forefront of your field thanks to new and completely revised chapters covering topics such as: Principles and Practice l Immune and Non-immune Hydrops Fetalis l Amniotic Fluid Volume l Enhancing Safe Prescribing in the Neonatal Intensive Care Unit l Role of Imaging in Neurodevelopmental Outcomes of High-Risk Neonates l Patent Ductus Arteriosus l Gastroesophageal Reflux and Gastroesophageal Reflux Diseases in the Neonate.
  • Find and grasp the information you need easily and rapidly with indexing that provides quick access to specific guidance.

Table of Contents

Section Title Page Action Price
e9780323295376v1.pdf 1
Front cover 1
Endsheet 2_Vol.1 2
Fanaroff and Martin’s Neonatal-Perinatal Medicine 3
Copyright page 4
Dedication 5
Contributors 7
Preface 19
Table of Contents 21
1 The Field of Neonatal-Perinatal Medicine 27
1 Growth Of Neonatal-Perinatal Medicine: 28
Perinatal Pioneers 28
The High-Risk Fetus and Perinatal Obstetrics 28
Midwives and Perinatal Care 31
Neonatal Resuscitation: Tales of Heroism and Desperation 31
Apgar and the Language of Asphyxia 31
Foundling Asylums and Infant Care 32
Saving Infants to Man the Army 32
An Ingenious Contrivance, the Couveuse, and Premature Baby Stations 33
Incubators, Baby Shows, and Origins of Neonatal Intensive Care Units 33
Supportive Care and Oxygen Therapy 34
Ventilatory Care: “Extended Resuscitation” 35
Supportive Care: Intravenous Fluid and Blood Transfusions 36
Tools and Supplies for Neonatal Intensive Care Units 36
Pediatric Surgery: Not For Rabbits Anymore 37
Global Neonatal Care 37
Medical Errors and “Patient Safety” as a New Discipline 38
Controlled Clinical Trials, Evidence-Based Medicine, and Research Networks 38
Future of Neonatal Research, Education, and Databases in the Internet Era 38
Some Famous High-Risk Infants 39
Acknowledgment 40
References 40
2 Epidemiology for Neonatologists 42
Births 42
Maternal Mortality 42
Infant Mortality 42
Reversing the Low Birth Weight Explosion 43
References 45
3 The Organization of Perinatal Services 46
Historical Perspective 46
Philosophical Basis of Regionalization 46
Is Regionalization Still Relevant? 48
Impact on Neonatal Morbidity and Mortality 48
Impact on Maternal Morbidity and Mortality 48
Maternal and Neonatal Transport Services 48
Measurements of Effectiveness of Care Organization 49
References 49
4 Medical Ethics in Neonatal Care 50
Principles in Medical Ethics 51
Autonomy 51
Beneficence 51
Nonmaleficence 52
Justice 52
Key Terms and Concepts 53
Communication with Parents 53
Teams and Communication 54
Family-Centered Neonatal Intensive Care 54
Consensual Decision Making 55
Team Consensus in Ethical Issues 55
Clinical Applications in Specific Moral Problems 56
Refusal of Treatment During Pregnancy 56
Prenatal Consultation at the Limits of Viability 56
To Provide Data on Which Decisions Can Be Based 57
To Explore the Values of the Pregnant Patient and Her Partner and Negotiate a Shared Decision Between Them and the Medical Team 57
Withholding and Withdrawing Life-Sustaining Medical Treatment in the Neonatal Intensive Care Unit 59
Collaborative, Procedural Framework for End-of-Life Decision Making 59
Specific Issues in End-of-Life Care 60
Brain Death, Donation After Cardiac Death, and Organ Donation 60
Brain Death 60
Donation After Cardiac Death 60
Use of Analgesic Agents at the Time of Withdrawing Life-Sustaining Medical Treatment 61
Palliative Care in the Neonatal Intensive Care Unit 61
Conflict Resolution When Consensus Cannot Be Reached 62
Ethics of Research in the Neonatal Intensive Care Unit 63
Ethical Responsibilities of Neonatal Physicians 64
Acknowledgment 65
References 65
5 Legal Issues in Neonatal-Perinatal Medicine 67
Disclaimer 67
General Legal Principles 68
Legislative Law and Case Law 68
State Law and Federal Law 68
General Structure of the Federal and State Court Systems 68
Supervision of Others 68
Theories of Liability for Attending Physicians 68
Residents and Fellows 69
Physician Assistants 70
Advanced Practice Neonatal Nurses 70
Malpractice 70
Duty 71
Supervising Others 71
Telephone Advice 71
Telemedicine 72
Prenatal Consultation 72
Breach 72
Standard of Care 72
Role of the Expert Witness 73
Res Ipsa Loquitur 73
Causation 74
Damages 74
Burden of Proof 74
Protected (Nondiscoverable) Proceedings 75
Other Tort Actions 75
Wrongful Birth 75
Wrongful Life 75
Wrongful Death 75
Strategies for Avoiding Tort Litigation 76
Trends in Malpractice Legislation 76
Conclusions 77
Live Birth 77
Born-Alive Infants Protection Act 78
Handicapped Newborns 78
Baby Doe 78
Baby Jane Doe 79
Baby K 79
Sun Hudson 80
Conclusions 80
Providing Care Against Parents’ Wishes 81
Miller Case 81
Messenger Case 82
Montalvo Case 82
Conclusions 82
Summary 83
References 84
6 Evaluating and Improving the Quality and Safety of Neonatal Intensive Care 85
The Case for Improvement 85
Brief History of Industrial Quality Improvement 87
Definition and Conceptual Frameworks for Quality 90
Definition 90
Conceptual Framework for Quality 90
Donabedian: Structure, Process, Outcomes 90
Pawson and Tilley: Realistic Evaluation 90
Batalden: Five Knowledge Systems 90
Complexity Theory 91
Translation of Frameworks into Action 91
Model for Improvement 91
Integrated Quality Management 92
Lean 92
Data and Methods for Quality Improvement 92
Data Elements for Assessment 93
Structure and Institutional Context 93
Processes 93
Outcomes 94
Balancing Measures 94
Assessing the Total Impact of a Quality Improvement Initiative 94
Risk Adjustment/Fair Comparisons 95
Data Sources 98
Administrative Data 98
Clinical Data 100
Qualitative Data 100
Quality Measurement and Improvement 100
Data for Selection 101
National Quality Measures 102
Data for Improvement 102
Global Assessments of Perinatal Quality: The Value Compass 103
Global Assessments of Perinatal Quality: The Baby-MONITOR 105
Quality and Safety Applied 105
Local Quality Improvement Applied: An Example 106
Quality Improvement Research 108
Quality and Safety in the International Context 110
Conclusion 110
Acknowledgment 110
References 110
7 Simulation in Neonatal-Perinatal Medicine 115
Simulation-Based Learning 115
Simulation-Based Assessment 120
Simulation-Based Research 120
Simulation as the Basis of Clinical Care 121
The Future of Simulation in Neonatal-Perinatal Medicine 121
References 122
8 Coding and Reimbursement: 124
The Basis of Neonatal Coding and Reimbursement 124
Current Procedural Terminology Coding for Neonatology: The Process 125
Specific Neonatal Codes 125
Inpatient Consultation 126
Normal Newborn Care Codes 126
Intensive Care 127
Neonatal and Pediatric Critical Care 127
Hospital Discharge Services 128
International Coding 128
New Models of Physician Reimbursement 129
Acknowledgment 130
References 130
9 Practicing Evidence-Based Neonatal-Perinatal Medicine 131
Asking a Focused Clinical Question 131
Finding Evidence 132
Sources of Evidence 132
Efficient Strategies for Searching for Evidence 132
Primary Reports 132
Reviews 132
Cochrane Systematic Reviews 133
Critically Appraising Evidence for Its Validity 133
Extracting the Data and Expressing the Effect of Treatment 134
Applying the Results to Patient Care 134
Promoting Evidence-Based Clinical Practice 135
References 136
10 Perinatal and Neonatal Care in Developing Countries 137
Global Initiatives to Reduce Infant Mortality Rate and Neonatal Mortality Rate: From Alma-Ata to Millennium Development Goals 137
The Millennium Development Goals 138
Tracking the Global Progress of Millennium Development Goals 139
Global Burden of Maternal and Neonatal Deaths 139
Maternal Mortality 139
Neonatal Mortality 140
Causes of Global Neonatal Mortality 141
Socioeconomic and Cultural Factors 141
Influence of Political Instability, War, and Conflict 142
Medical Causes of Neonatal Mortality Rate 142
Postnatal Adaptation 142
Birth Asphyxia 142
Management of Post Asphyxial Syndrome 146
Hypothermia 146
Infections 146
Burden of Neonatal Sepsis 147
Diagnosis of Neonatal Sepsis 147
Evidence-Based Interventions to Reduce Maternal Mortality Rates, Infant Mortality Rates, and Neonatal Mortality Rates 147
The Impact of Progress 149
Emerging New Diseases 149
The Burden of the High Cost of Advanced Neonatal Care 150
Long-Term Neurodevelopmental Outcome 150
Ethical Dilemmas 150
Strategies to Improve Global Neonatal and Perinatal Outcome 151
Summary 152
References 152
2 The Fetus 155
11 Genetic Aspects of Perinatal Disease and Prenatal Diagnosis 156
Principles of Inheritance 156
Chromosomal Disorders 156
Maternal Age Considerations 156
Abnormalities of Chromosome Number 156
Triploidy and Tetraploidy. 156
Aneuploidy. 156
Abnormalities of Chromosome Structure 157
Single-Gene Disorders 158
Autosomal Dominant Disorders 158
Advanced Paternal Age. 159
Autosomal Recessive Disorders 159
Sex-Linked Disorders 160
Non-Mendelian Patterns of Inheritance 160
Mitochondrial Inheritance 160
Epigenetics and Uniparental Disomy 161
Trinucleotide Repeat Expansion 162
Multifactorial Inheritance 162
Teratogens 162
Diagnostic Imaging 164
Airline Flights 164
Congenital Anomalies and Ultrasonography 164
Screening Modalities 165
Screening for Aneuploidies 165
First-Trimester Screening 165
Second-Trimester Screening 166
Screening for Multifactorial Disorders 166
Serum α-Fetoprotein 166
Screening for Fetal Aneuploidy Using Cell-Free Fetal DNA from Maternal Serum 166
Screening for Mendelian Disorders 166
Screening for Hemoglobinopathies 166
Carrier Screening for Cystic Fibrosis 167
Jewish Carrier Screening 167
Carrier Screening for Spinal Muscular Atrophy 167
Diagnostic Modalities 167
Chorionic Villus Sampling 167
Amniocentesis 169
Cordocentesis 169
Preimplantation Genetic Diagnosis 169
Technical Advances in Molecular Cytogenetics 169
Assisted Reproductive Technologies 170
Genetic Evaluation and Counseling 171
Conclusion 172
References 172
12 Perinatal Imaging 173
Fetal Imaging Techniques 173
Bioeffects and Safety 175
Ethical Considerations 176
Applications of Ultrasound 177
Genetic Screening 177
Assisted Reproduction 179
First-Trimester Studies 180
Multiple Gestations 180
Pregnancy Evaluation 181
Fetal Growth 182
Placental Abnormalities 182
Placental Location 182
Amniotic Fluid Volume 183
Cervical Length and Pelvic Structures 184
Second-Trimester Ultrasound Study of the Fetus 185
Doppler Ultrasound 186
Doppler Studies of the Growth-restricted Fetus 187
Procedures 187
Fetal Well-Being Assessment 187
Fetal Anomalies 188
Central Nervous System 188
Fetal Ventriculomegaly 188
Meningomyelocele and (Type II) Chiari Malformation 189
The Skull and Brain in Spina Bifida 190
Anencephaly 190
Encephalocele 190
Holoprosencephaly 190
Dandy-Walker Malformation 192
Choroid Plexus Cyst 192
Spine 192
Head and Neck 193
Heart 194
Gastrointestinal Tract 195
Normal Bowel Appearance 195
Esophageal Atresia and Tracheoesophageal Fistula 196
Small Bowel Obstruction 196
Anterior Abdominal Wall Defects 196
Diaphragmatic Hernia and Thoracic Lesions 196
Gallbladder and Bile Ducts 198
Genitourinary Tract 199
Musculoskeletal System 202
Two-Vessel Umbilical Cord 203
Summary 204
References 204
13 Estimation of Fetal Well-Being 207
Antepartum Fetal Surveillance 207
Indications for Surveillance 207
Physiologic Basis for Antenatal Surveillance 207
Patient Assessment of Fetal Movement 208
Nonstress Test 208
Contraction Stress Test 209
Biophysical Profile 209
Amniotic Fluid Volume Assessment 209
Doppler Flow Velocimetry 210
Interpretation of Test Results 212
Evaluation of the Intrapartum Fetus 212
Intrapartum Oxygenation and Neurologic Morbidity 213
Continuous Versus Intermittent Fetal Heart Rate Monitoring 213
Interpretation of Continuous FHR Recordings 214
Baseline Fetal Heart Rate 214
Fetal Heart Rate Variability 214
Accelerations 215
Decelerations 215
Interpretative Systems for Classification of Fetal Heart Rate Patterns 218
Category I 218
Category II 218
Category III 218
Management of Non–Category I FHR Patterns During Labor 218
Summary 219
Acknowledgement 220
References 220
14 Surgical Treatment of the Fetus 222
Fetal Access 222
Percutaneous 222
Fetoscopic 222
Open Hysterotomy 222
Exit Procedure 223
Anesthetic Considerations 223
Anomalies Amenable to Fetal Surgery 224
Congenital Diaphragmatic Hernia 224
Prognostic Criteria 224
Fetal Interventions 224
Neoplasms 226
Congenital Pulmonary Airway Malformations 226
Sacrococcygeal Teratoma 226
Fetal Neck Mass 228
Myelomeningocele 229
Urinary Tract Abnormalities 230
Hydronephrosis 230
Lower Urinary Tract Obstruction 230
Primary Fetal Hydrothorax 231
Abnormalities of Twin Gestations 231
Twin-Twin Transfusion Syndrome 231
Twin Reversed Arterial Perfusion Sequence 233
Polyhydramnios Affecting Runt Twin 233
Congenital Heart Disease 233
Amniotic Bands 234
Summary 234
References 234
15 Adverse Exposures to the Fetus 237
Exposures Not Concurrent with Pregnancy 237
Preconceptional Effects 237
Exposures Affecting the Epigenome 237
Exposures Affecting the Ovum 238
Paternal Effects 239
Secondary Fetal Exposure: Maternal Body Burden 240
Polychlorinated Biphenyls 240
Lead. 240
Mercury. 240
Maternal Exposures Concurrent with Pregnancy 240
Occupation and Paraoccupation 240
Air 241
Water 242
Diet 242
Pathways of Fetal Exposure 242
Placenta-Dependent Pathways 242
Placenta-Independent Pathways 242
Radiation 242
Heat 243
Noise 243
Fetal Pharmacokinetics 243
Fetal Distribution 243
Fetal Metabolism 243
Specific Exposures 244
Cigarette Smoke 244
e9780323295376v2 932
Front cover 932
Fanaroff and Martin’s Neonatal-Perinatal Medicine 933
Copyright page 934
Dedication 935
Contributors 937
Preface 949
Table of Contents 951
11 The Central Nervous System 957
58 Normal and Abnormal Brain Development 958
Mechanisms of Brain Development 958
Neural Induction and Neurulation 958
Neuronal Proliferation 959
Neuronal Migration and Cortical Lamination 962
Central Nervous System Organization 965
Subplate Neurons 965
Axonal and Dendritic Growth 966
Synaptogenesis 970
Programmed Cell Death 970
Glial Proliferation and Differentiation, and Myelination 972
Astrocytes. 972
Oligodendrocytes and Myelination. 973
Imaging Characteristics of Myelination. 974
Microglia and Brain Macrophages. 975
Brain Vascular Development 975
Abnormal Brain Development and Disorders 976
Disorders of Neural Tube Formation and Prosencephalic Development 976
Craniorachischisis Totalis, Anencephaly, Myeloschisis, Encephalocele, Myelomeningocele, and Occult Dysraphic States 976
Holoprosencephaly and Agenesis of the Corpus Callosum 977
Dandy-Walker Malformation 979
Abnormalities of Neuronal Proliferation 979
Microcephaly 979
Primary Microcephalies. 980
Microcephaly with Simplified Gyral Pattern. 980
Microlissencephaly 980
Megalencephaly 981
Disorders of Neuronal Migration 981
Classic Lissencephalies (Type I Lissencephalies) 981
LIS1 Mutations (Isolated Lissencephaly and Miller-Dieker Syndrome). 981
DCX Mutations. 981
Tubulin Mutations. 982
ARX Mutations. 982
Lissencephaly with Cerebellar Hypoplasia. 982
Syndromic Lissencephaly. 983
Cobblestone Lissencephalies (Type II Lissencephalies) 983
Type III Lissencephaly 983
X-Linked Periventricular Heterotopia 983
Zellweger Syndrome 984
Effects of Environmental Factors on Neuronal Migration 984
Disorders of Central Nervous System Organization and Maturation 985
References 985
59 White Matter Damage and Encephalopathy of Prematurity 988
Neuropathology of White Matter Injury 988
Historical View 988
Periventricular Leukomalacia 988
Macroscopic Neuropathology 988
Microscopic Neuropathology 988
New Neuropathologic Insights 989
Vulnerability of Oligodendroglia Cell Line. 990
Microglial Activity. 990
Neuronal/Axonal Damage. 990
Subplate Damage. 990
Models of Encephalopathy of Prematurity: Implications for Pathogenesis 991
Hypoperfusion and Hypoxia-Ischemia 991
Infection and Inflammation 992
Excitotoxicity and Oxidative Stress 993
Combined Insults 994
Neuroimaging of White Matter Injury 995
Neonatal Sonography 995
Conventional Magnetic Resonance Imaging 996
Diffusion Magnetic Resonance Imaging 997
Magnetic Resonance Spectroscopy 1000
Impairment of Brain Growth and Long-Term Development 1001
References 1003
60 Intracranial Hemorrhage and Vascular Lesions in the Neonate 1008
Intracranial Hemorrhage 1008
Incidence 1008
Timing of the Hemorrhage 1008
Neuropathology 1008
Germinal Matrix Hemorrhage 1009
Intraventricular Hemorrhage 1009
Parenchymal Hemorrhage 1009
Intracerebellar Hemorrhage 1010
Pathogenesis 1011
Prenatal Factors 1011
Intrapartum Factors 1011
Neonatal Factors 1012
Cardiovascular Factors 1012
Genetic Factors 1012
Diagnosis 1013
Management 1013
Neurodevelopmental Outcome 1015
Prevention 1015
Other Hemorrhages 1017
Cerebral Artery Infarction 1017
Sinovenous Thrombosis 1017
Perinatal Arterial Ischemic Stroke 1019
Incidence 1019
Diagnosis 1019
Risk Factors 1021
Prognosis 1021
References 1022
61 Hypoxic-Ischemic Encephalopathy 1026
Definitions 1026
Hypoxic-Ischemic Encephalopathy 1026
Hypoxia or Anoxia 1026
Ischemia 1026
Perinatal Asphyxia 1026
Pathophysiology 1026
Systemic Adaptation to Hypoxic-Ischemic Insult 1026
Preconditioning 1028
Perinatal Hypoxic-Ischemic Brain Damage 1029
Secondary Neuronal Death 1029
Glutamate Injury (Excitotoxicity) 1029
Free Radical Formation 1029
Apoptosis 1031
Cytokines 1031
Human Studies 1031
Selective Vulnerability 1031
Cellular Susceptibility 1031
Maturity 1031
Vascular Territories 1032
Regional Susceptibility 1032
Types of Hypoxic-Ischemic Insult 1032
Others 1032
Neuropathology 1032
Cerebral Edema 1032
Cellular Responses 1033
Calcification 1033
Chronic Lesions 1033
Assessment Tools 1033
Clinical Examination 1033
Neurophysiology 1033
EEG 1033
Evoked Potentials 1037
Neuroimaging 1038
Chemical Biomarkers 1039
Management 1040
Primary Prevention 1040
Resuscitation 1040
Systemic Management 1040
Renal System 1041
Cardiovascular System 1041
Hepatic and Gastrointestinal Systems 1041
Hematologic System 1041
Brain-Oriented Management 1041
Glucose 1041
Seizures 1042
Cerebral Edema 1043
Corticosteroids 1043
Specific Neuroprotective Strategies 1043
Hypothermia 1043
Other Strategies 1043
Prognostic Factors 1045
Apgar Scores and Condition at Birth 1045
Acidosis 1045
Severity of Encephalopathy 1045
Hypoxic-Ischemic Encephalopathy and Less Severe Neurodisability 1046
Acknowledgment 1046
References 1046
62 Seizures in Neonates 1049
Diagnosis: Clinical Versus Electroencephalographic 1049
Clinical Seizure Criteria 1049
Subtle Seizure Activity 1049
Clonic Seizures 1050
Multifocal (Fragmentary) Clonic Seizures 1052
Tonic Seizures 1052
Myoclonic Seizures 1052
Nonepileptic Behaviors of Neonates 1052
Tremulousness or Jitteriness Without Electrographic Correlates 1052
Neonatal Myoclonus Without Electrographic Seizures 1053
Neonatal Dystonia/Dyskinesia Without Electrographic Seizures 1055
Electrographic Seizure Criteria 1055
Ictal Electroencephalographic Patterns: A More Reliable Marker for Seizure Onset, Duration, and Severity 1055
Seizure Duration and Topography 1055
Brainstem Release Phenomena 1056
Subcortical Seizures and Electroclinical Dissociation 1057
Incidence of Neonatal Seizures 1057
Interictal Electroencephalographic Pattern Abnormalities 1057
Major Etiologies for Seizures 1058
Asphyxia-Related Events 1058
Metabolic Derangements 1060
Hypoglycemia 1060
Hypocalcemia 1060
Hyponatremia and Hypernatremia 1060
Cerebrovascular Lesions 1060
Infection 1061
Central Nervous System Malformations 1061
Inborn Errors of Metabolism 1064
Drug Withdrawal and Intoxication 1064
Progressive Neonatal Epileptic Syndromes 1064
Benign Familial Neonatal Seizures 1064
Diagnostic Algorithm 1065
Treatment 1065
Novel Drug Approaches 1066
Single/Synergistic Treatments for General Neonatal Disease States 1066
Treatments That Alter Neurotransmission 1067
Selective Alteration of a Specific Receptor 1068
Efficacy of Treatment 1068
Discontinuation of Drug Use 1068
Consequences of Neonatal Seizures 1068
Prognosis 1069
References 1070
63 Hypotonia and Neuromuscular Disease in the Neonate 1072
Diagnosis 1072
Neonatal Neuromuscular Disorders 1073
Spinal Muscular Atrophies 1073
Hereditary Motor and Sensory Neuropathies 1075
Hereditary Sensory and Autonomic Neuropathies 1075
Neuromuscular Junction Disorders 1076
Congenital Muscular Dystrophy 1078
Congenital Myotonic Dystrophy 1080
Other Muscular Dystrophies 1081
Congenital Myopathies 1081
Nemaline Myopathy 1081
Central Core Disease 1082
Multi-Minicore Myopathy 1082
Myotubular Myopathy 1082
Metabolic and Multisystem Disorders 1083
Mitochondrial Myopathies 1083
Disorders of Glycogen Metabolism 1083
Pompe Disease (Type II Glycogen Storage Disease) 1083
Debrancher Enzyme Deficiency (Type III Glycogen Storage Disease) 1083
McArdle Disease (Type V Glycogen Storage Disease) 1084
Phosphofructokinase Deficiency (Type VII Glycogen Storage Disease) 1084
Primary Carnitine Deficiency 1084
Peroxisomal Disorders 1084
References 1084
64 Disorders in Head Shape and Size 1086
Examination of the Head 1086
The Small Head 1086
Primary Microcephaly 1087
Genetic Defects 1087
Neurulation and Cleavage Anomalies 1087
Migrational Anomalies 1088
Congenital Infections 1090
Biochemical Disorders 1090
Radial Microbrain and Micrencephaly Vera 1090
Secondary Microcephaly 1091
Craniosynostosis 1091
Evaluation and Treatment of the Small Head 1091
The Large Head 1092
Macrencephaly 1092
Isolated Macrencephaly 1092
Macrencephaly and Growth Disorders 1092
Neurocutaneous Syndromes 1093
Chromosomal Disorders 1093
Degenerative Disorders 1094
Metabolic Disorders 1094
Enlargement of the Cerebrospinal Fluid Spaces 1094
Background 1094
Aqueductal Stenosis 1095
Dandy-Walker Malformation 1096
Chiari II Malformation 1096
Posthemorrhagic Hydrocephalus 1097
External Hydrocephalus 1098
Hydranencephaly 1099
Intracranial Cysts 1100
Presence or Enlargement of Other Structures 1100
Neoplasms 1100
Vascular Lesions 1100
Trauma 1101
Infection 1101
The Abnormally Shaped Head 1102
Craniosynostosis 1102
Nonsyndromic Craniosynostosis 1102
Sagittal Craniosynostosis. 1102
Unilateral Coronal Craniosynostosis. 1104
Bilateral Coronal Craniosynostosis. 1104
Metopic Craniosynostosis. 1105
Syndromic Craniosynostosis 1105
Crouzon Syndrome. 1106
Apert Syndrome. 1106
Pfeiffer Syndrome. 1107
Saethre-Chotzen Syndrome. 1108
Deformational Plagiocephaly 1108
Diagnosis 1108
Treatment 1109
References 1109
65 Myelomeningocele and Related Neural Tube Defects 1112
Defining Anatomy 1112
Embryology and Pathogenesis 1112
Specific Types 1112
Clinical Expression 1112
Treatment 1113
References 1113
66 Hearing Loss in the Newborn Infant 1115
Background 1115
Normal Hearing and Hearing Loss 1115
Tests for Hearing Loss 1115
Early Intervention Services 1117
Etiology of Hearing Loss 1117
Risk Factors 1118
Medical Workup for Hearing Loss and Care Coordination 1119
Middle Ear Disease 1119
Communication Options 1119
Audiologic Devices 1119
Hearing Aids 1119
Frequency Modulated Systems 1120
Cochlear Implants 1120
Continued Surveillance 1120
Stress and Impact on the Family 1120
References 1121
67 Assessment and Optimization of Neurobehavioral Development in Preterm Infants 1123
Neurobehavioral Maturation 1123
Behavioral States 1123
Sensory Functions and Interaction 1125
Sensory Function and Pain 1126
Muscle Tone, Movements, and Reflexes 1126
Sucking and Swallowing 1126
Neurobehavioral Assessment Tools 1126
The Neonatal Behavioral Assessment Scale and Related Methods 1128
General Movements 1128
The Dubowitz Neurological Assessment 1128
Methods to Assess Sucking and Swallowing 1130
Techniques for Optimizing Neurodevelopment 1130
Antenatal Care 1130
Neonatal Medical Care 1130
Developmental Care 1134
NIDCAP 1134
Skin-to-Skin Care 1134
Parenting Interventions 1135
Acknowledgement 1137
References 1137
68 Early Childhood Neurodevelopmental Outcomes of High-Risk Neonates 1140
Medical Problems 1142
Physical Growth 1142
Neurodevelopmental Outcome 1143
Transient Neurologic Problems 1143
Major Neurologic Sequelae 1143
Assessment of Functional Outcomes 1145
Timing of Follow-up Visits 1146
Developmental and Neurologic Testing 1146
Methodologic Considerations in Neurodevelopmental Outcome Studies 1147
School-Age Outcome 1147
School-Age Behavioral Problems 1148
Young Adult Outcomes 1148
Children Born at the Threshold of Viability 1149
Early Intervention 1150
References 1150
69 Role of Imaging in Neurodevelopmental Outcomes of High-Risk Neonates 1154
Cranial Ultrasound 1154
Intraventricular Hemorrhage, Periventricular Hemorrhagic Infarction, and White Matter Injury 1154
Normal Cranial Ultrasound and Outcomes 1155
Potential Limitations to Interpretation: Reliability, Accuracy, and Imaging Protocols 1155
Magnetic Resonance Imaging 1156
White Matter Injury 1156
Areas of the Brain and Findings of Interest 1156
Neonatal Magnetic Resonance Imaging to Predict Early Childhood Neurodevelopmental Outcomes 1158
Later Childhood Outcomes and Need for Further Study 1158
References 1159
12 The Respiratory System 1163
70 Lung Development and Maturation 1164
A Brief History 1164
Lung Structural Development 1164
Embryonic Period 1164
Pseudoglandular Stage 1164
Canalicular Stage 1165
Saccular and Alveolar Stages 1167
Fetal Lung Fluid 1169
Pulmonary Hypoplasia 1169
Alveolar Macrophages 1170
Surfactant Metabolism 1170
Composition 1170
Synthesis and Secretion 1171
Surfactant Pool Sizes 1172
Alveolar Life Cycle of Surfactant 1174
Pulmonary Alveolar Proteinosis 1174
Physiologic Effects of Surfactant in the Preterm Lung 1174
Alveolar Stability 1174
Pressure-Volume Curves 1175
Lung Maturation and Lung Maturity Testing 1175
Surfactant Appearance with Development 1175
Induced Lung Maturation 1177
Glucocorticoids and Lung Maturation 1178
Intrauterine Infection and Lung Maturation 1179
References 1180
71 Assessment of Neonatal Pulmonary Function 1182
Clinical Observations 1182
Respiratory Rate 1182
Retractions 1182
Nasal Flaring 1182
Grunting 1182
Cyanosis 1183
Cardiovascular Assessment 1183
Blood Gas Measurements 1183
Invasive Blood Gas Measurements 1183
Partial Pressure of Alveolar Oxygen and Carbon Dioxide 1183
Partial Pressure of Arterial Oxygen 1184
Partial Pressure of Arterial Carbon Dioxide 1185
Noninvasive Blood Gas Measurements 1185
Carbon Dioxide 1185
Oxygen 1185
Pulse Oximetry: Optimal Oxygen Saturation Target Range. 1185
Pulse Oximetry: Screening for Critical Congenital Heart Disease. 1186
Pulse Oximetry: Perfusion Index. 1186
Hyperoxia-Hyperventilation Test 1186
Evaluation of Shunting 1186
Respiratory Function 1186
Physiologic Measurements 1187
Airflow 1187
Lung Volume 1187
Pressure 1188
Respiratory Mechanics 1188
Compliance 1188
Resistance 1190
Time Constant 1191
Forced Expiratory Maneuvers 1191
Work of Breathing 1192
Limitations 1192
Clinical Applications 1193
References 1194
72 Respiratory Distress Syndrome in the Neonate 1196
Incidence 1196
Pathophysiology 1196
Heritability of Respiratory Distress Syndrome 1197
Prevention: Pharmacologic Acceleration of Pulmonary Maturation 1198
Clinical Features 1199
Radiographic Findings 1200
Treatment 1200
Positive-Pressure Ventilation 1200
Surfactant Therapy 1201
Inhaled Nitric Oxide Therapy 1203
Assessment of Blood Gas Status 1203
Arterial Sampling 1203
Noninvasive Monitoring: Pulse Oximetry 1204
Noninvasive Carbon Dioxide Monitoring 1204
Acid-Base Therapy 1204
Cardiovascular Management 1205
Antibiotics 1205
Blood Transfusion 1205
References 1205
73 Assisted Ventilation and Its Complications 1209
Continuous Positive Airway Pressure and Noninvasive Ventilation 1209
Physiology of CPAP 1209
Nasal Continuous Positive Airway Pressure 1209
Methods of Generating Continuous Positive Airway Pressure 1210
Flow-Driven CPAP. 1210
Bubble CPAP. 1210
Ventilator-Derived CPAP. 1210
Clinical Indications for CPAP in Newborns 1210
Practical Problems of NCPAP 1211
Complications of CPAP 1211
High-Flow Nasal Cannula 1211
Noninvasive Nasal Ventilation 1211
Clinical Indications for NIPPV 1211
Indications for Assisted Ventilation 1212
General Principles of Assisted Ventilation 1212
Oxygenation 1212
Ventilation 1213
Time Constant 1213
Classification of Mechanical Ventilators 1214
Control Variables (Ventilatory Modalities) 1214
Phase Variables (Ventilatory Modes) 1214
Modes of Ventilation 1215
Intermittent Mandatory Ventilation 1215
Synchronized Intermittent Mandatory Ventilation 1215
Assist/Control Ventilation 1215
Pressure Support Ventilation 1215
Proportional Assist Ventilation 1216
Pressure-Targeted Modalities 1216
Volume-Targeted Modalities 1217
Volume-Controlled Ventilation. 1217
Hybrid Volume-Targeted Ventilation. 1218
Volume Guarantee Ventilation. 1218
Pressure-Regulated Volume Control Ventilation. 1219
Volume-Assured Pressure Support Ventilation. 1219
Volume Support Ventilation. 1219
Pressure Augmentation. 1219
Suggested Ventilatory Management Guidelines 1219
Weaning Infants from Assisted Ventilation 1220
Weaning Strategies 1221
Weaning and Ventilator Modes 1221
SIMV and PSV 1221
Assessment for Extubation 1222
Postextubation Care 1222
High-Frequency Ventilation 1222
High-Frequency Jet Ventilation 1222
High-Frequency Oscillatory Ventilation 1223
Monitoring of Ventilated Infants 1223
Clinical Evaluation 1223
Assessment of Gas Exchange 1223
Blood Gases and Acid-Base Balance. 1223
Base Deficit. 1224
Capnometry or End-Tidal Carbon Dioxide Monitoring. 1224
Radiography and Other Chest Imaging 1224
Real-Time Pulmonary Graphic Monitoring 1225
Volume and Pressure Waveforms. 1225
Flow Waveform. 1225
Pulmonary Mechanics (Loops). 1226
Complications of Assisted Ventilation 1227
Airway 1227
Upper Airway 1228
Trachea 1228
Lungs 1228
Ventilator-Associated Pneumonia 1228
Air Leaks 1229
Ventilator-Induced Lung Injury 1230
Bronchopulmonary Dysplasia (Chronic Lung Disease) 1230
Miscellaneous Complications 1231
Imposed Work of Breathing 1231
Patent Ductus Arteriosus 1231
Neurologic Complications 1231
Intraventricular Hemorrhage and Periventricular Leukomalacia. 1231
Retinopathy of Prematurity 1232
References 1232
74 Neonatal Respiratory Disorders 1235
Developmental Diseases 1235
Pulmonary Underdevelopment: Pulmonary Agenesis, Aplasia, and Hypoplasia 1235
Congenital Diaphragmatic Hernia 1237
Capillary Alveolar Dysplasia 1239
Congenital Pulmonary Lymphangiectasia 1239
Chylothorax 1240
Congenital Cystic Pulmonary Malformations 1240
Congenital Cystic Adenomatoid Malformation 1240
Bronchopulmonary Sequestration 1242
Bronchogenic Cyst 1243
Congenital Lobar Emphysema 1243
Pulmonary Arteriovenous Malformation 1244
Acquired Neonatal Pulmonary Diseases 1244
Meconium Aspiration Syndrome 1244
Pathophysiology 1244
Clinical Features 1245
Management 1246
In the Delivery Room. 1246
In the Neonatal Intensive Care Unit. 1247
Other Aspiration Syndromes 1247
Neonatal Pneumonia 1248
Etiology 1248
Clinical Presentation 1248
Management 1249
Transient Tachypnea of the Newborn 1249
Pulmonary Hemorrhage 1250
Pulmonary Air Leak Syndromes 1251
Pathophysiology 1251
Clinical Presentation 1251
Diagnosis 1252
Management 1253
Rib Cage Abnormalities 1254
Asphyxiating Thoracic Dystrophy (Jeune Syndrome) 1254
Thanatophoric Dwarfism 1254
Phrenic Nerve Injury 1255
Acknowledgment 1255
References 1255
75 Neonatal Apnea and the Foundation of Respiratory Control 1259
Fetal Breathing 1259
Postnatal Development of Respiratory Control 1259
Neonatal Breathing Pattern 1259
Hypercapnia and Acidosis 1260
Hypoxia 1260
Laryngeal and Pulmonary Afferent Reflexes 1260
Neurotransmitters and Neuromodulators 1261
Neonatal Apnea 1262
Definition and Epidemiology 1262
Pathogenesis 1262
Clinical Associations 1264
Gastroesophageal Reflux and Neonatal Apnea 1265
Treatment 1265
Continuous Positive Airway Pressure 1265
Xanthine Therapy 1266
Other Therapeutic Approaches 1266
Resolution and Consequences of Apnea of Prematurity 1266
Apnea and Sudden Infant Death Syndrome 1267
Acknowledgment 1268
References 1268
76 Upper Airway Lesions in the Neonate 1269
Nasal and Nasopharyngeal Lesions 1269
Pyriform Aperture Stenosis 1269
Nasolacrimal Duct Cysts 1269
Choanal Atresia 1269
Intranasal Tumors 1270
Mucosal Obstruction 1270
Continuous Positive Airway Pressure Trauma 1270
Oral and Oropharyngeal Lesions 1270
Lymphatic Malformations 1271
Tongue Cysts 1271
Laryngeal Lesions 1272
Laryngomalacia 1273
Bifid or Absent Epiglottis 1273
Laryngeal Cysts 1273
Vocal Cord Paralysis 1274
Laryngeal Web 1275
Congenital Subglottic Stenosis 1275
Subglottic Hemangioma 1275
Laryngeal Cleft 1276
Congenital High Airway Obstruction Syndrome 1276
Intubation Trauma 1276
Conclusion 1277
References 1277
77 Bronchopulmonary Dysplasia in the Neonate 1279
Clinical Presentation 1279
Pathology 1281
Pathogenesis 1282
Prematurity 1282
Mechanical Trauma 1282
Oxygen Toxicity 1282
Infection and Inflammation 1283
Pulmonary Edema and Patent Ductus Arteriosus 1283
Airway Damage 1284
Other Factors 1284
Prediction of Bronchopulmonary Dysplasia 1284
Pulmonary Function 1284
Management 1285
Respiratory Support 1285
Fluid Management 1286
Bronchodilator Therapy 1286
Nutrition 1286
Control of Infection 1287
Corticosteroids 1287
Pulmonary Vasodilators 1288
Infant Stimulation 1288
Parental Support 1288
Outcome 1288
Prevention 1289
References 1289
78 Therapy for Cardiorespiratory Failure in the Neonate 1292
Extracorporeal Membrane Oxygenation 1292
Basic Techniques 1292
Venovenous Extracorporeal Membrane Oxygenation 1294
Personnel Needs 1294
Criteria for Patient Selection 1294
Gestational Age of 34 Weeks or Older 1294
No Major Intracranial Hemorrhage 1295
Absence of Complex Congenital Heart Disease 1295
Less than 10 to 14 Days of Assisted Ventilation 1295
Reversible Lung Disease 1295
The Dilemma of Congenital Diaphragmatic Hernia 1295
Failure of Maximal Medical Therapy 1298
Extracorporeal Membrane Oxygenation Referral 1299
Extracorporeal Membrane Oxygenation Follow-Up 1300
Cost Analysis 1301
Alternative Uses for Extracorporeal Membrane Oxygenation 1301
Extracorporeal Membrane Oxygenation Present and Future 1301
Nitric Oxide Therapy 1301
Physiology and Pharmacology 1302
Nitric Oxide Toxicity 1303
Neonatal Studies of Inhaled Nitric Oxide 1303
Term Infants 1303
Premature Infants 1304
Alternative Treatments and Avenues for Future Research 1305
References 1306
13 The Cardiovascular System 1309
79 Cardiac Embryology 1310
Overview of Normal Heart Development 1310
Scientific Basis of Cardiogenesis 1313
Precardiac to Cardiac Tissues: Commitment and Formation of Primary Axes 1313
The Tubular and Looping Heart 1313
Septation 1314
Endocardial Development: Formation of Cushion Tissue 1314
Neural Crest Contribution to Cardiogenesis 1314
Development of the Cardiac Conduction System 1315
Epicardium 1316
Lymphatics 1316
Cell Division and Cell Death 1317
Human Genetics 1317
Therapy 1317
References 1318
80 Pulmonary Vascular Development 1320
Fetal Pulmonary Vascular Development 1320
Structural Development 1320
Mediators of Fetal Pulmonary Vascular Tone 1321
Pulmonary Vascular Transition 1321
Vasoactive Mediators of the Pulmonary Vascular Transition 1322
Abnormalities of Pulmonary Vascular Development 1323
Persistent Pulmonary Hypertension of the Newborn 1323
Congenital Diaphragmatic Hernia 1325
Alveolar Capillary Dysplasia 1325
Bronchopulmonary Dysplasia 1326
Clinical Therapy of Persistent Pulmonary Hypertension of the Newborn 1327
General Care 1327
Pulmonary Vasodilator Therapy 1327
Prostanoids 1328
Milrinone 1328
Endothelin Receptor Antagonists 1328
Outcome and Follow-Up 1328
Neurodevelopmental Sequelae 1328
References 1328
81 Genetic and Environmental Contributions to Congenital Heart Disease 1332
Chromosomal Defects 1332
Genomic Defects 1332
Single Gene Defects 1333
Environmental Toxins 1334
Maternal Diseases 1334
Influence of Genetics, Gender, and Race 1334
Major Associated Noncardiac Defects 1335
Acknowledgment 1335
References 1335
82 Prenatal Diagnosis of Congenital Heart Disease 1337
Historical Perspective 1337
Overview of Fetal Circulation and Cardiac Adaptation at Birth 1337
Indications for Fetal Echocardiogram 1338
Performance of a Fetal Echocardiogram 1338
Fetal Pathology 1341
Impact of Prenatal Diagnosis 1342
Fetal Therapies 1342
Novel Approaches to Prenatal Diagnosis of Congenital Heart Disease 1343
References 1343
83 Patent Ductus Arteriosus 1345
Pathogenesis 1345
Pathophysiology 1346
Clinical Presentation 1346
Diagnostic Evaluation 1347
Management 1347
References 1349
84 Congenital Defects of the Cardiovascular System 1352
Cyanotic Heart Defects: Poor Mixing 1352
d-Transposition of the Great Arteries 1352
Anatomy and Pathophysiology 1352
Associated Defects 1352
Clinical Presentation 1352
Laboratory Evaluation 1352
Management and Prognosis 1352
History. 1353
Arterial Switch Operation. 1353
Cyanotic Defects: Restricted Pulmonary Blood Flow 1353
Tetralogy of Fallot 1353
Anatomy and Pathophysiology 1353
Associated Defects 1353
Clinical Presentation 1353
Laboratory Evaluation 1354
Management and Prognosis 1354
Tricuspid Atresia 1354
Anatomy and Pathophysiology 1354
Associated Defects 1354
Clinical Presentation 1354