Fetal and Neonatal Pathology (eBook)

Preface 6
Contents 7
Contributors 10
The Clinicians’ View of Fetal and Neonatal Necropsy 12
The Purpose of the Necropsy 12
The Fetal Necropsy: An Obstetrician’s Perspective 13
Prenatal Diagnosis of Congenital Abnormalities 17
Falling Rate of Necropsy 18
The Role of the Postmortem in Training and Audit 19
Neonatal Necropsy: A Neonatologist’s Perspective 19
Counseling 21
Authorization 21
Trends in Neonatal Necropsy Rates 22
The Necropsy’s Impact on Funeral Arrangements 26
Communication 26
Benefits of the Neonatal Necropsy 26
Training 26
Conclusion 27
The Perinatal Necropsy 31
Importance of Negative Findings 32
Necropsy and Audit 32
Adequate Clinical Information 33
Place of Structured Request Forms in Perinatal Pathology 36
Growth and Development 36
Equipment for Perinatal Necropsy 38
Postmortem Examination 39
Postmortem Imaging 40
Photography 43
External Examination 44
Examination of Body Cavities 44
Evisceration 47
Abdominal Vessels and Genitourinary System 49
Thoracic and Upper Abdominal Viscera 49
Examination of the Heart 50
Head and Cranial Contents 50
Spinal Cord 55
Skeleton 55
Histological Examination 56
Microbiological Examination 57
Cytogenetics 58
Molecular Genetics 58
Sampling for Biochemical Investigations 58
Examination of the Placenta 58
Macroscopic Examination 59
Weight and Measurement 59
Membranes 60
Umbilical Cord 60
Placental Surface 60
Slicing the Placenta 61
The Postmortem Report 61
The Placenta 65
Development of the Placenta 65
Villous Structure: Vasculature and Histology 68
Development of the Membranes 70
Development of the Umbilical Cord 71
Development of the Uteroplacental Circulation 71
Indications for Placental Examination 72
Multiple Pregnancy 72
Abnormalities in Development and Placentation 72
Placental Macroscopic Abnormalities 73
Placental Microscopic Abnormalities 80
Umbilical Cord 83
Amniochorial Membranes 88
Placenta Following Intrauterine Fetal Death 89
Placenta in Fetal Abnormalities 89
Placenta in Sudden Infant Death Syndrome 91
Placenta in Maternal Disorders 91
Placental Inflammation 101
Acute Chorioamnionitis 101
Chronic Villitis 104
Other Idiopathic Chronic Inflammatory Lesions 108
Spontaneous Abortion and the Pathology of Early Pregnancy 113
Spontaneous Abortion 113
Mosaicism, Uniparental Disomy, and Genomic Imprinting 121
Ectopic Pregnancy 123
Heterotopic Pregnancy 125
Gestational Trophoblastic Disease 125
Invasive Mole, Placental Site Trophoblastic Tumor, Choriocarcinoma, Epithelioid Trophoblastic Tumor 128
Congenital Abnormalities: Prenatal Diagnosis and Screening 134
Definitions 134
Causes of Congenital Malformations 135
Prenatal Diagnosis 142
Information for the Pathologist 153
Genetic Metabolic Disease 173
General Principles of Inborn Errors of Metabolism 173
Laboratory Investigations in Genetic Metabolic Disease 174
Clinical Presentations of Inborn Errors of Metabolism in Fetal Life 177
Clinical Presentations of Inborn Errors of Metabolism in the Neonatal Period 180
Protocol for Postmortem Diagnosis of Inborn Errors of Metabolism 192
Conclusion 192
Appendix 7.1: On-Line Information Services 193
Perinatal Hematology 195
Maternal and Fetal Bleeding 196
Maternal Factors 198
Deficiencies, Drugs, and Toxins 204
Fetal and Neonatal Factors 204
Epidemiology of Fetal and Neonatal Death 215
Accuracy of Perinatal Death Statistics 215
Epidemiological Analyses 217
Studies of Perinatal Mortality 218
Causes of Perinatal Death 218
Classification Systems 219
Avoidability of Death 224
Cause or Association 224
Maternal and Environmental Factors Associated with Perinatal Death 225
Genetics 229
Conclusion 229
Macerated Stillbirth 235
Changes Associated with Maceration 235
Limitations of Examination 237
Histological Examination 238
Additional Investigations 238
Pathological Findings in Macerated Stillbirths 241
Maternal Disorders Associated with Stillbirths 245
Stillbirth and Multiple Gestation 247
Conclusion 247
Prematurity 251
Causes of Prematurity 251
The Preterm Infant 256
Respiratory Problems 257
Brain Injury in the Preterm Infant 261
Nutrition of the Preterm Infant 263
Retinopathy of Prematurity 265
Infection 266
Outcome for the Extremely Preterm Infant 267
Pathology of Twinning 274
Zygosity and Chorionicity 274
Birth Weight Discordance 275
Vanished Twin 276
Malformations in Monozygotic Twins 276
Conjoined Twins 277
Monochorionic Placentas and Their Complications 277
Acardiac Twin or Twin Reversed Arterial Perfusion 280
Monoamniotic Twins 281
Intrapartum Problems 284
Intrapartum Asphyxia 285
Birth Trauma 296
Fetal Hydrops 308
Clinical Presentation 308
Causes and Associations of Fetal Hydrops 309
Distribution and Control of Fetal Fluid 313
Mechanisms of Fetal Hydrops 314
Investigation of Fetal Hydrops 315
Prenatal Therapy for Fetal Hydrops 316
Pathological Findings 318
Histological Examination 324
The Placenta 326
Significance of Pathological Abnormalities 328
Congenital Tumors 338
Etiology 341
Investigation of Congenital Tumors 346
Teratomas 346
Congenital Neuroblastoma 349
Hematological Tumors 351
Congenital Soft Tissue Tumors 355
Renal Tumors 361
Liver Tumors 365
Tumors of the Central Nervous System 366
Gonads 367
Skin Tumors 368
Other Organ-Specific Tumors 368
Maternal Malignant Disease in Pregnancy 368
The Impact of Infection During Pregnancy on the Mother and Baby 390
Congenital Infections 390
Infection and Preterm Birth 390
Specific Maternal Infections 393
Abnormal Vaginal Tract Flora 396
Sexually Transmitted Infections in Women and Adverse Pregnancy and Neonatal Outcomes 399
Specific Bacterial Infections 406
Specific Protozoan Infections 410
Specific Viral Infections 413
Iatrogenic Disease 435
Maternal Medication During Pregnancy 435
Complications of the Intrapartum Period 440
Prenatal Diagnosis 443
Complications of Neonatal Therapy 448
Infection 456
Complications of Pharmacological Interventions in Neonatal Lung Disease 456
The Alimentary Tract and Exocrine Pancreas 477
Development 477
Oral Cavity 478
Stomach 481
Small Intestine 482
Colon and Rectum 492
Abdominal Wall Defects and Hernias 497
Exocrine Pancreas 501
Biliary System 512
Liver and Gallbladder 512
Normal Development of the Liver 512
Vasculature 512
Functional Development of the Liver and Physiological Adaptations at Birth 513
Abnormalities of Development of the Liver and Bilary Tract 514
The Jaundiced Neonate 518
The Neonate with Liver Failure 525
Trauma and Iatrogenic Conditions Including Total Parenteral Nutrition 532
Tumors 534
Gallbladder 536
Miscellaneous Conditions 536
The Respiratory System 542
Examination of the Respiratory System 542
Normal Development 543
Lung Development and Control 545
Biochemical and Physiological Maturation 546
Pulmonary Vascular Changes at Birth 546
Developmental Anomalies 547
The Cardiovascular System 582
Development of the Heart 582
The Fetal Circulation and Changes at Birth 584
Examination of the Normal and Malformed Heart 586
Structural Congenital Heart Disease 590
Other Abnormalities 609
Structural Heart Disease in the Fetus 609
Inflammation 610
Myocardial Ischemia and Infarction 612
Cardiomyopathy 613
Tumors 619
Vascular System 621
The Cardiac Conduction System 623
The Urinary System 633
Development 633
Malformations of the Kidney 637
Congenital Nephrotic Syndrome 648
Hereditary Abnormalities of Renal Tubular Transport 648
Renal Hypoperfusion 648
Renal Infection 651
Renal Glomerular Lesions in Cyanotic Congenital Heart Disease 652
Congenital Abnormalities of the Renal Pelvis and Ureter 652
Congenital Abnormalities of the Bladder 653
Congenital Abnormalities of the Urethra 655
Acquired Diseases of Immature Kidneys 656
The Reproductive System 662
Normal Development 662
Male sexual differentiation 666
Female sexual differentiation 666
Pathology 667
Abnormal Virilization 669
Other Genital Abnormalities 670
The Endocrine System 673
Fetal Hormones and Fetal Growth 674
Fetal Hormones and the Placenta 674
Pituitary–Hypothalamic Axis 675
Adrenal Glands 678
Thyroid Gland 686
Parathyroid Glands 690
Endocrine Pancreas 692
The Reticuloendothelial System 707
Spleen 707
Thymus 709
Malformations of the Nervous System and Hydrocephalus 713
Early Central Nervous System Development 713
Malformations Related to Early Central Nervous System Development 714
Acquired Diseases of the Nervous System 730
Pathological Reactions in the Human Fetal Brain 730
Hemorrhage 734
Acquired Parenchymal Damage 738
Infections of the Nervous System 746
Metabolic Disorders 751
Skeletal Muscle and Peripheral Nerves 758
Development of Skeletal Muscle 758
Neuromuscular Disorders Affecting the Fetus and Neonate 759
The Concept of Fetal Akinesia and the Pena- Shokeir Phenotype 760
Arthrogryposis 760
Primary Fetal Neuromuscular Disorders 765
Prenatal Diagnosis of Neuromuscular Disease 776
Investigation of Neuromuscular Disease 777
The Skeletal System 781
Osteochondrodysplasias 782
FGFR3-Related Lethal Skeletal Dysplasias—The Achondroplasia Group 784
Thanatophoric Dysplasia with Bowed Femora with or Without Cloverleaf Skull ( Type I) 784
Thanatophoric Dysplasia with a Straight Femur with or Without a Cloverleaf Skull ( Type II) 787
Collagen Type I Disorders Osteogenesis Imperfecta
Type II Collagenopathies 791
Achondrogenesis Type II ( Langer- Saldino Dysplasia) 792
Torrance Dysplasia, Hypochondrogenesis, and Spondyloepiphyseal Dysplasia Congenita 793
Diastrophic Dysplasia Group 795
Short Rib Dysplasias with or Without Polydactyly 796
Short Rib-Polydactyly Type I and III ( Saldino- Noonan and Verma- Naumoff) 796
Short Rib-Polydactyly Type II ( Majewski) 797
Short Rib-Polydactyly Type IV ( Beemer– Langer) 797
Other Generalized Skeletal Abnormalities Associated with Perinatal Death 798
Fractures 801
Osteomyelitis 801
The Skin 806
Development of the Skin 806
Skin Function 808
Disorders of Development 809
Dermal Developmental Disorders 810
Developmental Abnormalities of Pigment 811
Common Neonatal Skin Conditions 811
Congenital Infections with Skin Manifestations 819
Congenital Genetically Determined Diseases 820
Other Genetic Diseases 826
Skin Disorders with Disordered Immune Responses 827
Skin Infiltrations and Tumour- Like Lesions 829
The Special Senses 836
The Eye 836
The Ear 854
Taste 858
Index 862