Fetal Medicine: Basic Science and Clinical Practice

Description

Covering pertinent basic science and offering today’s most authoritative guidance on clinical management, Fetal Medicine, 3rd Edition, is a must-have resource for obstetricians and other healthcare professionals involved in care of the fetus. An international team of expert contributors delivers the knowledge and background you need to effectively diagnose and treat fetal disorders – everything from prenatal screening and diagnostic tests to common and rare prenatal conditions, early pregnancy loss, ethical issues, and much more. Fetal Medicine: BASIC SCIENCE AND CLINICAL PRACTICE......Page 2 Copyright......Page 3 Foreword......Page 4 Preface......Page 5 List of Contributors......Page 6 Origin of the Early Embryological Terms......Page 13 Embryonic Cells in Culture......Page 14 Computing Sciences and Embryological Terminology......Page 15 Conclusion......Page 16 References......Page 17 The Cytoskeleton......Page 18 Epithelia......Page 20 Mesenchymal Cells......Page 22 Embryonic Induction and Cell Division......Page 24 The Cell Cycle......Page 25 Instructive Interactions......Page 26 Neural Ectoderm and Neural Crest Mesenchyme Interactions: The ‘Fly-Paper Model’ of Skull Development......Page 27 Surface Ectoderm and Somatopleuric Mesenchymal Interactions in the Limb......Page 29 Intraembryonic Mesoderm and Intermediate Mesenchyme Interactions......Page 31 Other Cells Types Affecting or Affected by Local Interactions......Page 32 Conclusion......Page 34 References......Page 35 Human Stage Series......Page 36 The Stage 11 Embryo, Body Plan Stage......Page 37 Obstetric Timing and Staging of Embryos and Fetuses......Page 40 Conclusion......Page 42 References......Page 43 Mechanisms of Teratogenicity......Page 44 Underlying Principles......Page 45 Medication......Page 46 Environmental Agents......Page 48 Selected Infections......Page 49 Selected Recreational Exposures......Page 50 Conclusion......Page 51 References......Page 52 Congenital Uterine Anomaly......Page 55 Normal Intrauterine Pregnancy......Page 56 Early Embryonic Demise......Page 57 Ultrasound Features......Page 58 Recurrent Miscarriage......Page 59 Risk Factors for Ectopic Pregnancy......Page 60 Tubal Ectopic Pregnancy......Page 61 Surgical management......Page 62 Conclusion......Page 63 References......Page 64 Nidation......Page 67 Trophoblast Interaction with Extracellular Matrix......Page 68 Matrix Degradation by Trophoblast......Page 69 Leukocyte Populations in Decidua......Page 70 Maternal KIR–Fetal HLA-C Combinations Influence Reproductive Success......Page 71 Conclusion......Page 73 References......Page 74 The Placenta at Delivery......Page 75 Haemochorial Placental Blood Flow......Page 76 Phenotypes of Extravillous Trophoblast......Page 77 Small Spindle-Shaped Extravillous Trophoblast Cells......Page 79 Transformation of the Uteroplacental Arteries......Page 80 Flow of Maternal Blood into the Intervillous Space......Page 82 Architecture of the Villous Trees......Page 83 Villous Development......Page 84 The Placental Barrier......Page 86 Physiology of Fetoplacental Blood Flow......Page 87 Conclusions......Page 88 References......Page 89 The Placental Exchange Barrier......Page 91 Types of Exchange Mechanisms......Page 92 Factors Affecting Maternofetal Exchange......Page 93 Ions......Page 94 Amino Acids......Page 96 Immunoglobulin G......Page 97 Clinical Considerations: Maternofetal Exchange and Fetal Growth Restriction......Page 98 Conclusions......Page 99 References......Page 100 Placental Pathological Assessment......Page 102 Prenatal Assessment of Specific Placental Pathologies......Page 103 Categories of Placental Pathologies......Page 105 Abnormalities of Placental Perfusion......Page 106 Primary Abnormalities of Villous Development......Page 107 Inflammatory Lesions......Page 108 Tumours and Tumourlike Lesions......Page 109 Conclusion......Page 110 References......Page 111 Brief Overview of Heart Development......Page 112 The Heart Fields......Page 113 Contraction......Page 114 Development of the Chambers and Outflows......Page 115 The Interventricular Septum......Page 116 The Atrioventricular Junction......Page 118 Outflow Tract......Page 119 Conduction Tissue......Page 120 Umbilical Veins......Page 121 The Arterial System......Page 122 Conclusion......Page 126 References......Page 127 Pseudoglandular Stage (5–17 Weeks)......Page 128 Structural Development......Page 129 Functional Development of the Pulmonary Circulation......Page 131 Changes at Birth......Page 132 Control of Fetal Lung Liquid Secretion......Page 133 Control of Fetal Lung Liquid Volume......Page 134 Regulation of Fetal Lung Growth......Page 135 Fetal Lung Hypoplasia......Page 136 Epithelial Cell Differentiation......Page 137 Conclusions......Page 138 References......Page 139 Timeline of Kidney Development......Page 141 The Metanephros......Page 142 Final Nephron Number......Page 143 Causes of Human Renal Anomalies......Page 144 Genetic Factors......Page 145 Potential Adverse Effects of Prematurity......Page 146 Conclusions......Page 147 References......Page 148 Introduction......Page 150 Legal Aspects, Aims and Types of Autopsy......Page 151 Internal Examination......Page 152 Retention of Organs......Page 153 Postmortem Imaging......Page 154 Hypoxic Ischaemic Changes......Page 155 Respiratory Anomalies......Page 156 Musculoskeletal Anomalies......Page 157 Postfetal Intervention......Page 158 Conclusion......Page 159 References......Page 160 Randomised Controlled Trials......Page 161 Evaluation of Screening and Diagnostic Tests......Page 162 Analysing Databases and Survey Data......Page 164 Meta-analysis......Page 165 Conclusion......Page 166 References......Page 167 The Fetus as a Patient......Page 168 The McCullough and Chervenak Model......Page 169 Why the McCullough and Chervenak Model Is Flawed......Page 170 Rationale of Offering Fetal Treatment......Page 171 Saving the Fetus at What Price to the Child......Page 172 Giving the Child a Better Life......Page 173 Ethical Challenges of Fetal Therapy Research......Page 174 Reproductive Autonomy and Parental Responsibility......Page 175 Conclusion......Page 176 References......Page 177 Basic Parameters of Diagnostic and Screening Tests......Page 179 Likelihood Ratios......Page 180 Receiver Operator Characteristic Curves......Page 181 Cost Effectiveness of Prenatal Screening......Page 182 Conclusions......Page 183 References......Page 184 Why Good Practice in Information-Giving Is so Important......Page 185 Conveying Information About Risk......Page 186 Noninvasive Prenatal Testing Using Cell-Free DNA......Page 187 Prenatal Diagnosis of Fetal Anomaly......Page 188 Pregnancy Management After Diagnosis......Page 189 Information Needs When Parents Decide to Continue With an Affected Pregnancy......Page 190 Conclusions......Page 191 References......Page 192 Historical Perspective......Page 194 Prevalence According to Gestational Age......Page 195 Principal Down Syndrome Markers......Page 196 Covariables......Page 197 Markers in More Detail......Page 198 For Localities with High-Quality Ultrasound......Page 199 Detection of Trisomy 18 and 13......Page 200 Ultrasound Markers......Page 201 Anomaly Scan Results......Page 202 Renal Transplant......Page 203 Smith-Lemli-Opitz Syndrome......Page 204 Maternal-Fetal Conditions......Page 205 Cost Effectiveness......Page 206 Risk Calculation Software......Page 207 Conclusions......Page 208 References......Page 209 Anatomical Survey at 11 to 13+6 weeks (Fig. 19.1 and Table 19.1)......Page 212 Increased Nuchal Translucency (Fig. 19.4) and Structural Anomalies......Page 214 First Trimester Fetal Brain and Spine Investigation......Page 215 Most Common Brain and Neural Tube Anomalies......Page 216 Midline Defects......Page 219 Early Markers for Congenital Heart Disease......Page 220 Accuracy of Congenital Heart Disease Detection by Early Ultrasound Investigation......Page 221 How to Perform a Complete Early Fetal Echocardiography......Page 222 Conclusions......Page 223 Thorax, Diaphragm, Abdominal Wall and Bowel......Page 224 Abdominal Wall Defects......Page 225 Rare Intraabdominal and Abdominal Wall Anomalies......Page 227 Genetic Syndromes......Page 228 Conclusion......Page 229 References......Page 230 20 - Evidence for Routine Ultrasound Screening for Fetal Abnormalities in the Second and Third Trimesters......Page 233 RADIUS Trial......Page 234 Eurofetus Study......Page 235 Better Estimate of Gestational Age......Page 237 Equipment......Page 238 Resource Utilisation......Page 239 Conclusions......Page 240 References......Page 241 Fetal Cells in the Maternal Circulation......Page 243 Future Directions......Page 245 Cell-Free Fetal DNA in the Maternal Circulation......Page 246 Massively Parallel Sequencing and Next-Generation Sequencing......Page 247 Single Nucleotide Polymorphism......Page 248 Methylation-Based Technology......Page 249 Methods for Detection of Subchromosomal Abnormalities (Microdeletions and Microduplications)......Page 250 False-Negative Noninvasive Prenatal Testing Results......Page 251 Choice of the Confirmatory Diagnostic Procedure......Page 252 Conclusion......Page 254 References......Page 255 Introduction......Page 258 Fetal Sex Determination......Page 262 Noninvasive Prenatal Diagnosis for Monogenic Disorders......Page 263 Noninvasive Prenatal Diagnosis for Autosomal Dominant Conditions and Exclusion of Paternal or De Novo Mutations......Page 264 Noninvasive Prenatal Diagnosis for Autosomal Recessive and Sex-Linked Disorders......Page 265 Ethical and Social Issues......Page 267 Conclusions......Page 268 References......Page 269 Technique of Amniocentesis......Page 271 Fetal Risks of Amniocentesis......Page 272 Pregnancy Losses After Amniocentesis......Page 273 Technique......Page 274 Safety of Chorionic Villus Sampling in Multiple Pregnancies......Page 275 Fetal Blood Sampling......Page 276 Safety of Fetal Blood Sampling......Page 277 Conclusion......Page 278 References......Page 279 Prenatal Specimens......Page 284 Abnormal Screening Result......Page 285 Noninvasive Prenatal Screening Using Cell-Free Fetal DNA......Page 286 Chromosome Rearrangement or Copy Number Variant in a Parent......Page 287 Aneuploidy......Page 289 Long Contiguous Stretches of Homozygosity......Page 290 Karyotype......Page 291 Rapid Aneuploidy Detection......Page 293 Chromosomal Microarray......Page 294 Genotype–Phenotype Correlation......Page 295 Maternal Cell Contamination......Page 296 Concluding Remarks......Page 297 References......Page 298 Introduction......Page 301 What Is Next-Generation Sequencing, and How Does It Work......Page 302 How Are Next-Generation Sequencing Data, Such as Whole-Exome Sequencing Results, Analysed and Interpreted......Page 304 Multigene Panels......Page 305 Pretest Counselling......Page 306 Conclusions......Page 307 References......Page 308 Genetic Screening Using Molecular Techniques......Page 309 Expanded Carrier Screening......Page 311 Next-Generation Sequencing......Page 312 Premarital Carrier Screening Programs......Page 313 Couple Screening......Page 314 Pretest Counselling......Page 315 Posttest Counselling and Management......Page 316 Conclusions......Page 317 References......Page 318 No Functional α-Globin Genes: Hb Bart Disease or Homozygous α0-Thalassemia......Page 320 One Functional α-Globin Gene: Hb H Disease......Page 321 Homozygous β-Thalassemia......Page 322 Haemoglobin Electrophoresis and High-Performance Liquid Chromatography or Capillary Electrophoresis......Page 323 Workup for Screen-Positive Couples......Page 324 Detection of αo- and α+-Thalassemia Deletion......Page 325 Detection of Nondeletion α+-Thalassemia Mutations......Page 326 Ultrasound Exclusion of Homozygous α0-Thalassemia......Page 327 Other Noninvasive Testing for Homozygous α0-Thalassemia......Page 328 Noninvasive Prenatal Diagnosis for Thalassemia......Page 329 Conclusion......Page 330 References......Page 331 Introduction......Page 332 Ventriculomegaly......Page 333 Anomalies Related to Dorsal Induction Failure......Page 335 The classification of spinal dysraphism has been revised recently as shown in Fig. 28.16.41......Page 339 Anomalies of Prosencephalic Development......Page 341 Posterior Fossa Anomalies......Page 346 Disorders of Cortical Development......Page 349 Congenital Infections......Page 352 Destructive Lesions......Page 354 Vascular Malformations......Page 357 Intracranial Masses: Cysts and Tumours......Page 358 Conclusion......Page 361 References......Page 362 Screening for Congenital Heart Disease......Page 367 Prenatal Therapy......Page 368 Lesion with Abnormal Four-Chamber View......Page 369 Lesions Requiring Views of the Outflow Tracts......Page 377 Lesions Difficult to Detect Prenatally......Page 382 Arrhythmia......Page 384 Conclusion......Page 385 References......Page 386 Thoracic Malformations Detected on Prenatal Ultrasound......Page 388 Congenital Pulmonary Airway Malformations......Page 389 Pulmonary Sequestration......Page 390 Pulmonary Hypoplasia and Agenesis......Page 391 Cystic Lung Lesions......Page 392 Cystic Lung Lesions......Page 393 Pulmonary Agenesis and Hypoplasia......Page 394 Conclusion......Page 395 References......Page 396 Aetiology and Pathogenesis......Page 398 Prenatal Diagnosis and Outcome Prediction......Page 399 Antenatal Therapeutic Strategies......Page 402 Experimental Antenatal Treatments......Page 404 Conclusion......Page 405 References......Page 406 Embryologic Development......Page 408 Sonographic Features at 12 Weeks’ Gestation......Page 410 Sonographic Features after 28 Weeks’ Gestation......Page 411 Gastroschisis......Page 412 Exomphalos......Page 413 Bladder and Cloacal Extrophy......Page 414 Dilated Bowel......Page 415 The Liver......Page 416 Intraabdominal Calcification......Page 417 Conclusions......Page 418 References......Page 419 Embryology......Page 421 Normal Sonographic Development of the Fetal Kidneys and Urinary Tract......Page 422 Urinary Tract Anomalies......Page 424 Prenatal Management of Fetal Obstructive Uropathies......Page 428 Renal Abnormalities......Page 434 Anomalies of Position......Page 435 Abnormalities in Renal Size, Structure and Echogenicity......Page 436 Nonhereditary Cystic Kidneys Disease......Page 440 Bladder Malformations......Page 442 References......Page 443 Embryology and Sonographic Appearance of the Normal Fetal Skeleton......Page 445 Maternal Disease......Page 446 Abnormal Findings on Routine Ultrasound......Page 452 Timing of Diagnosis......Page 455 Osteogenesis imperfecta types IIA, IIB and IIC......Page 456 Thanatophoric dysplasia......Page 459 Asphyxiating thoracic dystrophy......Page 460 Ellis-van Creveld syndrome......Page 464 Osteogenesis imperfecta type IV......Page 465 Rhizomelic chondrodysplasia punctata......Page 466 Conradi Hunermann syndrome......Page 467 Other Skeletal Dysplasias Associated With Short, Straight Limbs......Page 468 Acromesomelic dysplasia......Page 469 Kniest dysplasia......Page 470 Limb Deficiency or Congenital Amputations......Page 471 Conclusions......Page 473 References......Page 474 Ultrasound Investigation of the Fetal Face......Page 475 Three-Dimensional Ultrasound of the Fetal Face......Page 476 Cross-Sectional Imaging......Page 477 Rendered Images......Page 478 Facial Clefts......Page 479 Ultrasound Examination of Facial Clefts......Page 480 Ultrasound Examination of Micrognathia......Page 483 Forehead......Page 487 Nose......Page 489 Jaws......Page 490 Mouth......Page 491 Eyes......Page 494 Ears......Page 495 Conclusions......Page 498 References......Page 500 Diagnosis of Hydrops Fetalis by Ultrasound......Page 502 Pathophysiology......Page 503 Cardiovascular Conditions......Page 504 Chromosomal Disorders......Page 505 Haematologic Conditions......Page 507 Lymphatic Dysplasia......Page 508 Metabolic Conditions......Page 509 Clinical Evaluation......Page 510 Fetal Assessment......Page 511 Fetal Therapy......Page 513 Prognosis and Recurrence Risk Counselling......Page 516 Conclusion......Page 517 References......Page 518 Cystic Lymphangioma......Page 520 Antenatal Management......Page 522 Intrapartum Management: The EXIT Procedure......Page 524 Postnatal Management......Page 526 Antenatal Management......Page 527 Conclusion......Page 529 References......Page 531 Lethal Conditions......Page 533 Pre- and Intraoperative Management......Page 535 The Surgical Procedure......Page 536 Postoperative Management......Page 537 Outcomes of Spina Bifida Aperta......Page 542 Outcomes of Congenital Thoracic Malformations......Page 544 Outcomes of Sacrococcygeal Teratoma......Page 545 Conclusions......Page 546 References......Page 547 Epidemiology......Page 549 Classification of Fetal Growth Restriction......Page 550 Fetal Factors......Page 551 Uterine Artery Doppler......Page 552 Ultrasonographic Biometry......Page 553 Ultrasonographic Biometry......Page 554 Confirmation of Gestational Age......Page 556 Ultrasound......Page 557 Potential Interventions......Page 559 Timing of Delivery......Page 560 Summary of Recommendations for Management of Fetal Growth Restriction......Page 561 Counselling......Page 562 Conclusion......Page 563 References......Page 564 Pathogenesis......Page 568 Fetal Response......Page 569 Rh Variants......Page 570 Kell......Page 571 Other Rare Antigens......Page 572 Indirect Coombs Test......Page 574 Fetal Genotype Testing......Page 575 Management of Previously Affected Pregnancies......Page 576 Intrauterine Transfusion......Page 577 Transfusion Interval......Page 578 Conclusion......Page 579 Autoimmune or Idiopathic Thrombocytopenic Purpura......Page 584 Obstetric Management......Page 585 Natural History......Page 586 Pathophysiology......Page 587 Diagnostics......Page 589 Obstetric Management......Page 591 Conclusion......Page 594 e1References......Page 595 Virology......Page 598 Congenital Infection......Page 599 Epidemiology......Page 603 Fetal Infection......Page 604 Management......Page 605 Fetal Infection......Page 606 Prevention......Page 607 Congenital Infection......Page 608 Management Options......Page 609 Maternal Infection......Page 610 Fetal Infection......Page 611 Prevention......Page 612 Maternal Infection......Page 613 Treatment......Page 614 Conclusion......Page 615 References......Page 616 Semiquantitative Ultrasound Assessment of Amniotic Fluid Volume......Page 622 Amniotic Fluid Volume and Perinatal Outcome......Page 623 Amniotic Fluid Assessment in Multiple Pregnancies......Page 624 Oligohydramnios......Page 625 Cause of Polyhydramnios......Page 626 Conclusion......Page 627 References......Page 628 Chorionicity......Page 629 Noninvasive Prenatal Testing Performance in Twin Pregnancies......Page 630 Considerations for Aneuploidy Screening in Twin Pregnancies......Page 631 Invasive Prenatal Diagnosis......Page 632 Disorders of Fetal Growth in Multifetal Gestations......Page 633 Single Intrauterine Fetal Death......Page 635 Twin–Twin Transfusion Syndrome......Page 639 Twin-Reversed Arterial Perfusion......Page 646 Conjoined Twins......Page 647 Monoamniotic Twins......Page 648 Selective Feticide......Page 649 Conclusion......Page 650 References......Page 651 What Can We Learn From Animal Models......Page 657 In Utero Transplantation......Page 658 Drug Development......Page 660 Conclusion......Page 662 References......Page 663 The Potential Advantages and Disadvantages of Fetal Gene Therapy......Page 665 Selecting the Right Disease for Fetal Gene Therapy......Page 667 Practical Considerations for Clinical Fetal Gene Therapy......Page 670 Potential Adverse Consequences of Fetal Gene Therapy......Page 673 Clinical Translation of Fetal Gene Therapy......Page 674 Conclusion......Page 676 Kermack and Forsdahl......Page 679 Mechanisms of the Developmental Origins of Health and Disease......Page 680 Postnatal ‘Catch-up’ Growth......Page 681 The Fetal Insulin Hypothesis......Page 682 Genomic Variation and Epigenetics......Page 683 Infant Nutrition......Page 685 Conclusion......Page 686 References......Page 687 Current Status of Pharmacotherapy in Pregnancy......Page 689 Absorption......Page 690 Distribution......Page 691 Metabolism......Page 692 Placental Transport......Page 693 Functional Impact of Xenobiotics on the Fetus......Page 694 Conclusion......Page 695 References......Page 696 Delivery Room Management......Page 697 Brain Injury in the Preterm Infant......Page 698 Cerebellar Injury......Page 699 Long-Term Follow-Up in in Extreme Preterm Children......Page 702 Neurologic, Motor and Cognitive Outcome......Page 703 Conclusions......Page 704 References......Page 706 Answer 3......Page 707 Answer 1......Page 708 Question 1......Page 709 Answer 2......Page 710 Answer 1......Page 711 Answer 4......Page 712 Answer 1......Page 713 Answer 5......Page 714 Question 1......Page 715 Answer 2......Page 717 Answer 3......Page 718 Answer 4......Page 720 Answer 2......Page 722 Answer 1......Page 723 Answer 1......Page 724 Answer 2......Page 725 Question 2......Page 727 Answer 1......Page 728 Question 3......Page 729 Question 2......Page 730 Question 2......Page 731 Question 3......Page 732 Answer 4......Page 733 Answer 3......Page 734 Answer 4......Page 735 Question 2......Page 736 Answer 1......Page 737 Answer 3......Page 738 Question 3......Page 739 Answer 4......Page 740 Question 4......Page 741 Answer 1......Page 742 Answer 3......Page 743 Answer 4......Page 744 Answer 4......Page 745 Answer 1......Page 746 Answer 2......Page 747 Answer 1......Page 748 Question 4......Page 749 Answer 2......Page 750 Answer 3......Page 751 Answer 3......Page 752