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Book Details
Abstract
With a foreword by John T. Queenan, MD, Professor and Chair Emeritus of Obstetrics and Gynecology, Georgetown University School of Medicine, Washington.
Fetal medicine has emerged as a separate subspecialty over the last 30 years as a result of major advances in a number of areas, in particular ultrasound imaging, cytogenetics, molecular biology and biochemistry. The widespread use of antenatal screening and diagnostic tests has led to an increased need for obstetricians to have knowledge and skills in fetal medicine. This book provides the information that underpins training programmes in fetal medicine and integrates science and clinical disciplines in a practical and useful way.
- Basic science sections provide clinicians with a vital introduction to the new language of science that will help them understand new and development treatment options.
- Clinical sections include: the latest advances in prenatal screening; a systems-based presentation of the diagnosis and management of fetal malformations; complete coverage of common and rare fetal conditions including growth restriction, endocrine and platelet disorders, early pregnancy loss, and twins/multiple pregnancy.
- Highly illustrated with over 500 ultrasound scans and line drawings.
- International team of expert contributors.
- Features new self-assessment section.
- Written by an international team of experts.
- Shorter, more focused on fetal medicine
- Clinical sections written in an up-to-date, problem-based style
- Case studies and vignettes to illustrate clinical points
- More focus on important basic-science concepts, such as maternofetal cell trafficking, and the relevance to clinical management
- Expansion of information on bereavement due to fetal loss
- New self-assessment section
Table of Contents
| Section Title | Page | Action | Price |
|---|---|---|---|
| Front cover | Cover | ||
| Fetal medicine: Basic science and clinical practice | iii | ||
| Copyright page | iv | ||
| Contents | v | ||
| Foreword | vii | ||
| Preface | viii | ||
| Contributors | ix | ||
| SECTION 1 Early fetal development | 1 | ||
| Chapter 1 Early concepts and terminology | 3 | ||
| THE ORIGIN OF THE TRADITIONAL LANGUAGE OF EMBRYOLOGY | 3 | ||
| RECENT NOMENCLATURE OF EARLY DEVELOPMENT AND SPECIFICATION OF CELL ORIGIN | 4 | ||
| ANIMAL MODELS OF DEVELOPMENT | 5 | ||
| REFERENCES | 5 | ||
| Chapter 2 Cellular mechanisms and embryonic tissues | 6 | ||
| GENERAL CHARACTERISTICS OF ALL CELLS | 6 | ||
| EMBRYONIC TISSUES | 8 | ||
| TRANSFORMATION FROM EPITHELIUM TO MESENCHYME | 12 | ||
| EMBRYONIC INDUCTION AND CELL DIVISION | 12 | ||
| THE CELL CYCLE | 14 | ||
| TISSUE INTERACTIONS | 14 | ||
| EPITHELIAL–MESENCHYMAL INTERACTIONS | 15 | ||
| CYTOKINES AND GROWTH FACTORS | 22 | ||
| REFERENCES | 23 | ||
| Chapter 3 Staging embryos in development and the embryonic body plan | 24 | ||
| INTRODUCTION | 24 | ||
| CHICK STAGE SERIES | 24 | ||
| HUMAN STAGE SERIES | 25 | ||
| WHAT IS CONSIDERED 'NORMAL' IN HUMAN EMBRYOS? | 26 | ||
| MOLECULAR MARKERS AND STAGING SYSTEMS | 26 | ||
| OBSTETRIC STAGING SCHEMES | 26 | ||
| MAIN STAGES IN THE EMBRYONIC PERIOD | 27 | ||
| THE STAGE 11 EMBRYO, THE BODY PLAN | 27 | ||
| REFERENCES | 32 | ||
| Chapter 4 Development of the head | 33 | ||
| INTRODUCTION | 33 | ||
| FORMATION OF THE NEURAL POPULATION | 35 | ||
| CONTRIBUTION OF THE EARLY NEURAL CREST TO THE HEAD | 35 | ||
| PARAXIAL MESENCHYME AND THE NEURAL TUBE | 36 | ||
| NEURULATION | 36 | ||
| FORMATION OF THE NOTOCHORD | 36 | ||
| EARLY DEVELOPMENT OF THE BRAIN | 37 | ||
| NEUROMERES | 37 | ||
| PATTERNING IN THE EARLY NEURAL TUBE | 37 | ||
| PREDICTIVE FATE MAPS OF THE NEURAL PLATE AND NEURAL CREST | 37 | ||
| DEVELOPMENT OF THE SKULL | 39 | ||
| FORMATION OF SOMITES FROM PARAXIAL MESENCHYME | 39 | ||
| DEVELOPMENT OF THE PHARYNX | 41 | ||
| PHARYNGEAL ARCHES | 41 | ||
| SKELETAL ELEMENTS IN THE PHARYNGEAL ARCHES | 43 | ||
| FACE | 43 | ||
| PALATE | 43 | ||
| PARAXIAL MESENCHYME IN THE ARCHES – MUSCLES IN THE HEAD AND NECK | 44 | ||
| INNERVATION OF THE HEAD AND ARCHES | 44 | ||
| ANGIOGENIC MESENCHYME IN THE ARCHES | 45 | ||
| CONNECTIVE TISSUE ELEMENTS IN THE HEAD AND NECK | 45 | ||
| EXTERNAL FEATURES OF HEAD DEVELOPMENT | 45 | ||
| EVOLUTION OF THE HEAD | 46 | ||
| REFERENCES | 46 | ||
| Chapter 5 Development of the heart | 47 | ||
| INTRODUCTION | 47 | ||
| THE EARLIEST STAGES OF HEART DEVELOPMENT | 47 | ||
| LOOPING OF THE HEART TUBE AND INITIATION OF CHAMBER FORMATION | 48 | ||
| DEVELOPMENT AND SEPTATION OF THE ATRIA AND INFLOW TRACT | 49 | ||
| DEVELOPMENT AND SEPTATION OF THE VENTRICLES AND OUTFLOW TRACT | 52 | ||
| REFERENCES | 57 | ||
| SECTION 2 The placenta | 61 | ||
| Chapter 6 The immunology of implantation | 63 | ||
| INTRODUCTION | 63 | ||
| NIDATION | 63 | ||
| TROPHOBLAST POPULATIONS | 64 | ||
| DECIDUALIZATION | 64 | ||
| TROPHOBLAST INTERACTION WITH EXTRACELLULAR MATRIX | 65 | ||
| MATRIX DEGRADATION BY TROPHOBLAST | 66 | ||
| ENDOVASCULAR TROPHOBLAST MIGRATION | 66 | ||
| TROPHOBLAST EXPRESSION OF MAJOR HISTOCOMPATIBILITY COMPLEX (MHC) ANTIGENS | 66 | ||
| LEUKOCYTE POPULATIONS IN DECIDUA | 66 | ||
| UTERINE NK CELL RECOGNITION OF TROPHOBLAST | 67 | ||
| CONCLUSION | 67 | ||
| REFERENCES | 68 | ||
| Chapter 7 Development of the placenta and its circulation | 69 | ||
| INTRODUCTION | 69 | ||
| THE PLACENTA AT DELIVERY | 69 | ||
| HEMOCHORIAL PLACENTAL BLOOD FLOW | 71 | ||
| EARLY STAGES OF PLACENTAL DEVELOPMENT | 71 | ||
| PHENOTYPES OF EXTRAVILLOUS TROPHOBLAST | 73 | ||
| REGULATION OF TROPHOBLAST INVASION | 74 | ||
| PLACENTAL PERFUSION DURING EMBRYOGENESIS | 74 | ||
| TRANSFORMATION OF THE UTEROPLACENTAL ARTERIES | 75 | ||
| FLOW OF MATERNAL BLOOD INTO THE INTERVILLOUS SPACE | 76 | ||
| DEVELOPMENT OF PLACENTAL VILLI | 77 | ||
| ARCHITECTURE OF THE VILLOUS TREES | 77 | ||
| VILLOUS DEVELOPMENT | 78 | ||
| THE PLACENTAL BARRIER | 81 | ||
| INTEGRITY OF THE PLACENTAL BARRIER | 81 | ||
| PHYSIOLOGY OF FETOPLACENTAL BLOOD FLOW | 81 | ||
| PLACENTAL PATHOLOGY OF IUGR AND PRE-ECLAMPSIA | 82 | ||
| PRENATAL DIAGNOSIS OF PLACENTAL INSUFFICIENCY | 85 | ||
| MOLECULAR CONTROL OF TROPHOBLAST AND ENDOTHELIAL DIFFERENTIATION | 85 | ||
| CONCLUDING REMARKS | 88 | ||
| REFERENCES | 88 | ||
| Chapter 8 Placental function in maternofetal exchange | 97 | ||
| INTRODUCTION | 97 | ||
| THE PLACENTAL BARRIER | 98 | ||
| TYPES OF TRANSPORT INVOLVED IN MATERNOFETAL EXCHANGE | 98 | ||
| OXYGEN EXCHANGE | 99 | ||
| SODIUM TRANSPORT | 100 | ||
| WATER | 100 | ||
| ACID–BASE BALANCE, CARBON DIOXIDE AND PROTONS | 100 | ||
| CALCIUM TRANSPORT | 101 | ||
| IRON | 101 | ||
| IMMUNOGLOBULINS | 101 | ||
| GLUCOSE | 101 | ||
| AMINO ACIDS | 102 | ||
| LIPIDS | 103 | ||
| REGULATION OF PLACENTAL NUTRIENT TRANSPORTERS | 104 | ||
| CLINICAL IMPLICATIONS | 104 | ||
| REFERENCES | 105 | ||
| Chapter 9 Maternofetal trafficking | 110 | ||
| INTRODUCTION | 110 | ||
| FETOMATERNAL TRAFFICKING IN THE MOUSE MODEL | 110 | ||
| FETOMATERNAL TRAFFICKING IN HUMANS | 111 | ||
| FETOMATERNAL TRAFFICKING AND DISEASE | 111 | ||
| FETOMATERNAL TRAFFICKING: RELEVANCE FOR THE STEM CELL DEBATE | 113 | ||
| MATERNOFETAL TRAFFICKING | 113 | ||
| SUMMARY | 114 | ||
| REFERENCES | 114 | ||
| SECTION 3 Fetal physiology and pathology | 117 | ||
| Chapter 10 Development of the cardiovascular system | 119 | ||
| INTRODUCTION | 119 | ||
| CARDIAC DEVELOPMENT | 119 | ||
| ADULT CIRCULATION | 123 | ||
| THE FETAL CIRCULATION | 124 | ||
| FETAL HAEMODYNAMICS | 124 | ||
| ACKNOWLEDGMENTS | 131 | ||
| REFERENCES | 131 | ||
| Chapter 11 Lung growth and maturation | 133 | ||
| INTRODUCTION | 133 | ||
| STAGES OF LUNG DEVELOPMENT | 133 | ||
| PULMONARY CIRCULATION | 136 | ||
| FETAL BREATHING MOVEMENTS | 137 | ||
| FETAL LUNG LIQUID | 137 | ||
| LUNG GROWTH | 139 | ||
| LUNG MATURATION | 141 | ||
| PULMONARY SURFACTANT | 142 | ||
| TREATMENTS FOR LUNG IMMATURITY | 143 | ||
| REFERENCES | 144 | ||
| Chapter 12 Development of the kidneys and urinary tract | 147 | ||
| INTRODUCTION | 147 | ||
| RENAL DEVELOPMENT | 148 | ||
| NEPHRON ENDOWMENT | 149 | ||
| FUNCTIONAL DEVELOPMENT OF THE METANEPHROS | 152 | ||
| RENIN–ANGIOTENSIN SYSTEM (RAS) | 152 | ||
| EICOSANOIDS | 153 | ||
| RENAL AGENESIS AND CONGENITAL URINARY TRACT MALFORMATIONS | 153 | ||
| CONCLUSION | 154 | ||
| REFERENCES | 154 | ||
| Chapter 13 Maternal medicines and the fetus | 158 | ||
| INTRODUCTION | 158 | ||
| WHAT IS A TERATOGEN? | 158 | ||
| IDENTIFYING A TERATOGEN | 158 | ||
| HOW COMMON ARE DRUG-INDUCED EFFECTS ON THE FETUS? | 160 | ||
| PRE-EXISTING MATERNAL DISEASE AND CONGENITAL MALFORMATION | 160 | ||
| DRUG METABOLISM DURING PREGNANCY | 160 | ||
| THE PLACENTA | 160 | ||
| TIMING AND DOSING OF DRUG EXPOSURE DURING PREGNANCY | 160 | ||
| GENERAL PRINCIPLES OF PRESCRIBING IN PREGNANCY | 160 | ||
| HYPERTENSION | 161 | ||
| ANTICOAGULATION AND ANTIPLATELET AGENTS | 164 | ||
| ANTI-ARRHYTHMICS IN PREGNANCY | 165 | ||
| ASTHMA | 166 | ||
| IMMUNOSUPRESSANTS | 167 | ||
| ENDOCRINE DISORDERS | 170 | ||
| ANTI-EPILEPSY DRUGS IN PREGNANCY | 172 | ||
| TREATMENT OF DEPRESSION | 173 | ||
| VACCINATION AND PREGNANCY | 174 | ||
| CONCLUSION | 174 | ||
| REFERENCES | 174 | ||
| Chapter 14 The perinatal postmortem | 181 | ||
| INTRODUCTION | 181 | ||
| REASONS FOR PERFORMING A PERINATAL POSTMORTEM | 181 | ||
| THE VALUE OF THE PERINATAL POSTMORTEM | 182 | ||
| AUTHORIZATION FOR POSTMORTEM | 182 | ||
| THE POSTMORTEM EXAMINATION | 183 | ||
| THE POSTMORTEM IN SPECIAL SITUATIONS | 188 | ||
| CONCLUSION | 193 | ||
| REFERENCES | 193 | ||
| SECTION 4 Epidemiology | 195 | ||
| Chapter 15 Epidemiological techniques in fetal medicine | 197 | ||
| INTRODUCTION | 197 | ||
| ROUTINE DATASETS | 197 | ||
| PERINATAL MORTALITY SURVEYS | 198 | ||
| DIAGNOSTIC TESTS | 198 | ||
| CASE STUDIES | 198 | ||
| EXPERIMENTAL STUDIES | 199 | ||
| SYSTEMATIC REVIEWS | 201 | ||
| EVIDENCE-BASED MEDICINE | 201 | ||
| REFERENCES | 202 | ||
| SECTION 5 Ethics | 205 | ||
| Chapter 16 Ethical issues in maternal–fetal medicine | 207 | ||
| INTRODUCTION | 207 | ||
| WHY SHOULD WE CONSIDER ETHICS? | 208 | ||
| DESCRIPTIVE AND PRESCRIPTIVE ANALYSIS | 208 | ||
| HOW CAN PHILOSOPHERS OR ETHICISTS HELP? | 209 | ||
| WHAT IS AN ETHICAL QUESTION? | 210 | ||
| THE 'PLAYERS' IN MATERNAL–FETAL MEDICINE | 211 | ||
| WHAT GIVES ADULT HUMANS MORAL VALUE? | 212 | ||
| WHAT IS THE VALUE OR MORAL STATUS OF FETAL LIFE? | 212 | ||
| HOW DOES FETAL MORAL WORTH CHANGE WITH TIME? | 213 | ||
| DOES BIRTH MAKE A DIFFERENCE? | 213 | ||
| WHAT ARE THE OBLIGATIONS OF OTHERS AND SPECIAL RELATIONSHIPS? | 213 | ||
| FRAMEWORKS FOR ANALYSIS | 214 | ||
| 'THE FETUS AS A PATIENT' | 215 | ||
| 'HOW SHOULD I ACT?' | 217 | ||
| ETHICS – THE HIGHEST IDEAL OF BEHAVIOR? | 217 | ||
| PROFESSIONAL ETHICS OR ETIQUETTE | 217 | ||
| VIRTUE ETHICS | 217 | ||
| PRINCIPLES AND ALGORITHMS | 217 | ||
| DUTY-, GOAL- AND RIGHTS-BASED PHILOSOPHIES | 217 | ||
| LAW – THE LOWEST STANDARD OF BEHAVIOR? | 217 | ||
| REAL-LIFE ETHICAL TROUBLE | 218 | ||
| HOW TO GET OUT OF ETHICAL TROUBLE | 218 | ||
| CONCLUSIONS | 219 | ||
| ACKNOWLEDGMENT | 219 | ||
| REFERENCES | 220 | ||
| SECTION 6 Prenatal screening and diagnosis | 223 | ||
| Chapter 17 Conveying information about screening | 225 | ||
| INTRODUCTION | 225 | ||
| WHY IS INFORMATION GIVING SO IMPORTANT? | 225 | ||
| ASSUMPTIONS ABOUT 'INFORMED CHOICE' | 226 | ||
| INFORMATION GIVING AND ETHNIC MINORITY POPULATIONS | 226 | ||
| THE INFORMATION NEEDS OF WOMEN AND THEIR PARTNERS | 226 | ||
| INFORMATION RESOURCES | 227 | ||
| UNDERSTANDING AND CONVEYING INFORMATION ABOUT RISK | 228 | ||
| TECHNOLOGY-SPECIFIC CONSIDERATIONS | 229 | ||
| MEASURING INFORMED CHOICE | 231 | ||
| CONCLUSIONS | 231 | ||
| REFERENCES | 232 | ||
| Chapter 18 Parental reaction to prenatal diagnosis and subsequent bereavement | 234 | ||
| INTRODUCTION | 234 | ||
| BREAKING BAD NEWS | 235 | ||
| IMPACT OF PRENATAL DIAGNOSIS | 235 | ||
| DECISION MAKING AFTER A PRENATAL DIAGNOSIS | 235 | ||
| CONTINUING THE PREGNANCY AFTER A DIAGNOSIS | 237 | ||
| TERMINATION FOR WOMEN | 237 | ||
| PSYCHOLOGICAL EFFECTS OF TERMINATION FOR WOMEN | 238 | ||
| PARTNERS | 239 | ||
| FOLLOW-UP AND THE SUBSEQUENT PREGNANCY | 239 | ||
| STAFF ISSUES | 240 | ||
| REFERENCES | 240 | ||
| Chapter 19 Prenatal screening for open neural tube defects and Down's syndrome | 243 | ||
| HISTORY AND OVERVIEW: HOW PRENATAL SCREENING BEGAN AND EVOLVED | 243 | ||
| SCREENING FOR OPEN NEURAL TUBE DEFECTS | 244 | ||
| MATHEMATICAL PRINCIPLES | 246 | ||
| SCREENING FOR DOWN'S SYNDROME | 248 | ||
| PRENATAL TESTING FOR TRISOMY 18 | 261 | ||
| REFERENCES | 262 | ||
| Chapter 20 Ultrasound screening for fetal abnormalities and aneuploidies in the first and second trimesters | 265 | ||
| INTRODUCTION | 265 | ||
| 'ROUTINE' PRENATAL ULTRASOUND | 265 | ||
| MID-TRIMESTER FETAL ANATOMY SCAN | 266 | ||
| THE 'GENETIC SONOGRAM' AT 15–20 WEEKS | 267 | ||
| MAJOR STRUCTURAL ANOMALIES ASSOCIATED WITH ANEUPLOIDY | 267 | ||
| 'SOFT' SONOGRAPHIC MARKERS FOR ANEUPLOIDY | 269 | ||
| BIOMETRIC MARKERS FOR ANEUPLOIDY | 270 | ||
| OTHER SOFT SONOGRAPHIC MARKERS | 270 | ||
| VARIABILITY IN SONOGRAPHIC MARKER DETECTION | 271 | ||
| SIGNIFICANCE OF INDIVIDUAL SOFT MARKERS | 272 | ||
| APPLICATION OF SOFT MARKER IDENTIFICATION IN PRACTICE | 273 | ||
| ANEUPLOID CONDITIONS OTHER THAN TRISOMY 21 | 274 | ||
| FIRST-TRIMESTER SCREENING FOR ANEUPLOIDY | 274 | ||
| ACCURATE NUCHAL TRANSLUCENCY MEASUREMENT | 275 | ||
| PERFORMANCE OF FIRST-TRIMESTER COMBINED SCREENING | 275 | ||
| SEPTATED CYSTIC HYGROMA | 276 | ||
| FETAL NASAL BONE IN THE FIRST TRIMESTER | 276 | ||
| FIRST-TRIMESTER DOPPLER ASSESSMENT OF THE DUCTUS VENOSUS | 276 | ||
| FIRST-TRIMESTER TRICUSPID REGURGITATION | 276 | ||
| ANATOMIC SURVEY IN THE FIRST TRIMESTER | 276 | ||
| THREE-DIMENSIONAL ULTRASOUND | 277 | ||
| CONCLUSION | 277 | ||
| REFERENCES | 277 | ||
| Chapter 21 Non-invasive screening and diagnosis from maternal blood | 282 | ||
| INTRODUCTION | 282 | ||
| FETOMATERNAL TRAFFIC AS THE BASIC ELEMENT FOR NON-INVASIVE PRENATAL DIAGNOSIS | 283 | ||
| NON-INVASIVE PRENATAL DIAGNOSIS FROM 'BENCH TO BEDSIDE' | 284 | ||
| IMMEDIATE CONSEQUENCES OF THE INFLUX OF FETAL MATERIAL INTO THE MATERNAL CIRCULATION | 285 | ||
| CELL-FREE FETAL DNA: A PROMISING MARKER FOR PRE-ECLAMPSIA | 285 | ||
| CURRENT ADVANCES IN NON-INVASIVE PRENATAL DIAGNOSIS FOR DOWN'S SYNDROME | 287 | ||
| REFERENCES | 288 | ||
| Chapter 22 Invasive diagnostic procedures | 292 | ||
| INTRODUCTION | 292 | ||
| AMNIOCENTESIS | 292 | ||
| CHORIONIC VILLUS SAMPLING (CVS) | 295 | ||
| FETAL BLOOD SAMPLING (FBS) | 300 | ||
| FETAL TISSUE BIOPSY | 300 | ||
| CONCLUSION | 301 | ||
| REFERENCES | 301 | ||
| Chapter 23 Cytogenetics | 305 | ||
| INTRODUCTION | 305 | ||
| REFERRAL INDICATIONS FOR CYTOGENETIC ANALYSIS | 306 | ||
| PRENATAL SAMPLES | 306 | ||
| TYPES OF CHROMOSOME ABNORMALITY | 307 | ||
| CYTOGENETIC TECHNIQUES AND THEIR APPLICATIONS | 311 | ||
| QF-PCR | 313 | ||
| MLPA | 314 | ||
| TARGETED TESTING | 315 | ||
| FUTURE PROSPECTS | 315 | ||
| REFERENCES | 315 | ||
| Chapter 24 Mendelian genetics – the old and the new | 318 | ||
| INTRODUCTION | 318 | ||
| TRADITIONAL TEACHING ON SINGLE GENE DISORDERS | 319 | ||
| NEW MENDELIAN GENETICS | 320 | ||
| CONCLUSION | 322 | ||
| REFERENCES | 322 | ||
| Chapter 25 Preimplantation genetic diagnosis | 323 | ||
| INTRODUCTION | 323 | ||
| THE APPROACH TO PREIMPLANTATION GENETIC DIAGNOSIS | 323 | ||
| CHROMOSOMAL ABNORMALITIES IN PREIMPLANTATION EMBRYOS | 325 | ||
| DIAGNOSIS OF MONOGENIC DISORDERS | 325 | ||
| EMBRYO SEXING TO AVOID X-LINKED DISEASE | 326 | ||
| DETECTION OF CHROMOSOME ABNORMALITIES | 326 | ||
| FUTURE DEVELOPMENTS | 328 | ||
| REFERENCES | 329 | ||
| Chapter 26 Hemoglobinopathies | 331 | ||
| INTRODUCTION | 331 | ||
| THE GLOBIN GENES | 331 | ||
| & | 333 | ||
| & | 335 | ||
| & | 339 | ||
| ABNORMAL HEMOGLOBINS | 339 | ||
| PRENATAL DIAGNOSIS | 340 | ||
| FETAL CELLS IN MATERNAL BLOOD | 341 | ||
| FETAL DNA IN MATERNAL PLASMA | 341 | ||
| PREIMPLANTATION DIAGNOSIS | 341 | ||
| DIAGNOSTIC PITFALLS | 342 | ||
| ACKNOWLEDGMENTS | 342 | ||
| REFERENCES | 342 | ||
| Chapter 27 Prenatal screening for thalassemias | 344 | ||
| & | 344 | ||
| & | 345 | ||
| SCREENING | 346 | ||
| REFERENCES | 347 | ||
| Chapter 28 Cystic fibrosis | 349 | ||
| CLINICAL OVERVIEW OF CYSTIC FIBROSIS | 349 | ||
| THE CFTR GENE | 349 | ||
| ECHOGENIC BOWEL AS A MARKER FOR CYSTIC FIBROSIS | 350 | ||
| PRESYMPTOMATIC TESTING IN CYSTIC FIBROSIS | 350 | ||
| REFERENCES | 355 | ||
| Chapter 29 Inborn errors of metabolism | 357 | ||
| INTRODUCTION | 357 | ||
| INDICATIONS FOR PRENATAL DIAGNOSIS | 357 | ||
| PREREQUISITES FOR PRENATAL DIAGNOSIS | 358 | ||
| CHORIONIC VILLI (CV) | 358 | ||
| AMNIOCENTESIS | 359 | ||
| FETAL BLOOD AND OTHER FLUIDS AND TISSUES | 359 | ||
| ENZYME ANALYSIS | 359 | ||
| METABOLITE ANALYSIS | 359 | ||
| DNA ANALYSIS | 359 | ||
| DIAGNOSTIC EXPERIENCE | 360 | ||
| LYSOSOMAL STORAGE DISEASES | 360 | ||
| PEROXISOMAL DISORDERS (TABLE 29.3) | 364 | ||
| DISORDERS OF CARBOHYDRATE METABOLISM (TABLE 29.4) | 364 | ||
| DISORDERS OF NUCLEOTIDE METABOLISM AND DNA REPAIR (TABLE 29.5) | 366 | ||
| DISORDERS OF AMINO ACID AND ORGANIC ACID METABOLISM (TABLE 29.6) | 367 | ||
| OTHER DISORDERS (TABLE 29.7) | 368 | ||
| PAST, PRESENT AND FUTURE | 369 | ||
| REFERENCES | 370 | ||
| SECTION 7 Diagnosis and management of fetal malformations | 377 | ||
| Chapter 30 Sonography of the fetal central nervous system | 379 | ||
| INTRODUCTION | 379 | ||
| FETAL CNS ANATOMY – A DYNAMIC PATTERN | 379 | ||
| DISORDERS OF PRIMARY NEURULATION | 381 | ||
| DISORDERS OF SECONDARY NEURULATION | 386 | ||
| DISORDERS OF PROSENCEPHALIC DEVELOPMENT | 388 | ||
| DISORDERS OF PROSENCEPHALIC MIDLINE DEVELOPMENT | 391 | ||
| DISORDERS OF NEURONAL PROLIFERATION | 393 | ||
| DISORDERS OF NEURONAL MIGRATION | 396 | ||
| DISORDERS OF CEREBELLAR DEVELOPMENT | 396 | ||
| PRENATAL INSULTS | 400 | ||
| INTRAUTERINE INFECTIONS AFFECTING THE BRAIN | 401 | ||
| VASCULAR ABNORMALITIES | 402 | ||
| INTRACRANIAL CYSTS | 403 | ||
| CONCLUSIONS | 406 | ||
| REFERENCES | 406 | ||
| Chapter 31 The heart | 412 | ||
| INTRODUCTION | 412 | ||
| SCREENING FOR CHD | 412 | ||
| WHO SHOULD BE REFERRED TO THE FETAL CARDIOLOGIST? | 413 | ||
| TRAINING | 413 | ||
| FIRST-TRIMESTER SCREENING | 414 | ||
| BROAD CLASSIFICATION OF CONGENITAL HEART DISEASE DETECTED ANTENATALLY | 415 | ||
| MANAGEMENT DURING PREGNANCY | 424 | ||
| NEW TECHNOLOGIES AND THERAPIES | 425 | ||
| CONCLUSIONS | 425 | ||
| REFERENCES | 426 | ||
| Chapter 32 Fetal lung lesions | 429 | ||
| INTRODUCTION | 429 | ||
| PRENATAL DIAGNOSIS AND NATURAL HISTORY | 430 | ||
| THE EXPERIMENTAL BACKGROUND FOR CLINICAL FETAL SURGERY | 431 | ||
| THE FETAL SURGERY EXPERIENCE: TAPS, SHUNTS, RESECTIONS AND THE EXIT | 431 | ||
| MANAGEMENT SUMMARY | 434 | ||
| REFERENCES | 434 | ||
| Chapter 33 Congenital diaphragmatic hernia | 437 | ||
| INTRODUCTION | 437 | ||
| ETIOLOGY | 437 | ||
| EMBRYOLOGY OF CDH | 438 | ||
| PULMONARY HYPOPLASIA | 438 | ||
| GENETICS OF CDH | 438 | ||
| NATURAL HISTORY | 438 | ||
| PRENATAL DIAGNOSIS | 439 | ||
| PRE- AND PERINATAL MANAGEMENT | 442 | ||
| REFERENCES | 444 | ||
| Chapter 34 Abdomen | 447 | ||
| INTRODUCTION | 447 | ||
| NORMAL ULTRASOUND APPEARANCES | 447 | ||
| STRUCTURAL BOWEL ABNORMALITIES | 447 | ||
| FUNCTIONAL BOWEL ABNORMALITIES | 451 | ||
| STRUCTURAL ABNORMALITIES OF THE LIVER | 452 | ||
| STRUCTURAL ABNORMALITIES OF THE BILIARY TREE | 453 | ||
| INTESTINAL ACCIDENTS | 453 | ||
| MIDLINE HERNIATIONS | 455 | ||
| REFERENCES | 456 | ||
| Chapter 35 Kidney and urinary tract disorders | 459 | ||
| EMBRYOLOGY | 459 | ||
| NORMAL SONOGRAPHIC DEVELOPMENT OF THE FETAL KIDNEYS AND URINARY TRACT | 460 | ||
| CLASSIFICATION AND PATHOLOGY | 461 | ||
| NEPHROLOGICAL CONSEQUENCES OF FETAL UROPATHIES | 461 | ||
| OBSTRUCTIONS TO THE URINARY OUTFLOW | 462 | ||
| SONOGRAPHIC PRENATAL DIAGNOSIS OF FETAL UROPATHIES | 462 | ||
| PRENATAL MANAGEMENT OF FETAL UROPATHIES | 464 | ||
| KIDNEY ANOMALIES | 469 | ||
| PRENATAL DIAGNOSIS AND MANAGEMENT | 472 | ||
| ACKNOWLEDGMENTS | 473 | ||
| REFERENCES | 473 | ||
| Chapter 36 Fetal skeletal abnormalities | 478 | ||
| INTRODUCTION | 478 | ||
| TERMINOLOGY | 478 | ||
| EMBRYOLOGY AND SONOGRAPHIC APPEARANCE OF THE NORMAL FETAL SKELETON | 480 | ||
| CLASSIFICATION OF SKELETAL DYSPLASIAS | 480 | ||
| DESCRIPTION OF INDIVIDUAL CONDITIONS – GENETICS AND SONOGRAPHIC FINDINGS | 491 | ||
| GENERAL COUNSELING AND FOLLOW-UP ISSUES | 510 | ||
| CONCLUSIONS | 511 | ||
| REFERENCES | 511 | ||
| Chapter 37 Fetal hydrops | 514 | ||
| INTRODUCTION | 514 | ||
| THE DIAGNOSIS OF FETAL HYDROPS | 514 | ||
| PATHOPHYSIOLOGY | 515 | ||
| IMMUNE HYDROPS | 517 | ||
| NON-IMMUNE HYDROPS | 517 | ||
| CLINICAL EVALUATION OF THE HYDROPIC FETUS | 523 | ||
| OBSTETRIC MANAGEMENT AND DELIVERY | 524 | ||
| CONCLUSIONS | 524 | ||
| REFERENCES | 524 | ||
| Chapter 38 Fetal tumors | 528 | ||
| INTRODUCTION | 528 | ||
| CYSTIC HYGROMA AND LYMPHANGIOMA | 528 | ||
| CERVICAL TERATOMA | 530 | ||
| EX UTERO INTRAPARTUM TREATMENT (EXIT) | 531 | ||
| SACROCOCCYGEAL TERATOMA | 532 | ||
| NEUROBLASTOMA | 535 | ||
| REFERENCES | 536 | ||
| SECTION 8 Diagnosis and management of other fetal conditions | 539 | ||
| Chapter 39 Fetal growth and growth restriction | 541 | ||
| INTRODUCTION | 541 | ||
| DEFINITIONS | 541 | ||
| NORMAL FETAL GROWTH | 542 | ||
| GENETIC CONTROL OF GROWTH | 542 | ||
| ENDOCRINE CONTROL OF GROWTH | 542 | ||
| MATERNAL CONSTRAINT | 542 | ||
| CAUSES OF FETAL GROWTH RESTRICTION | 543 | ||
| MULTIPLE PREGNANCY | 544 | ||
| FETAL PHYSIOLOGICAL RESPONSES TO SUBSTRATE DEPRIVATION | 544 | ||
| PRENATAL DIAGNOSIS OF FETAL GROWTH RESTRICTION | 545 | ||
| MANAGEMENT OF FETAL GROWTH RESTRICTION | 549 | ||
| TIMING OF DELIVERY | 552 | ||
| INTRAPARTUM MANAGEMENT AND DELIVERY | 553 | ||
| POSTNATAL MANAGEMENT | 553 | ||
| PEDIATRIC CONSEQUENCES OF GROWTH RESTRICTION | 553 | ||
| CONCLUSION | 554 | ||
| REFERENCES | 554 | ||
| Chapter 40 Red cell alloimmunization | 559 | ||
| INTRODUCTION | 559 | ||
| HISTORY | 559 | ||
| MECHANISM OF RED CELL ALLOIMMUNIZATION | 560 | ||
| MONITORING A PREGNANCY AT RISK | 563 | ||
| INVASIVE TESTING OF THE FETUS | 566 | ||
| MANAGEMENT | 567 | ||
| THE FUTURE | 573 | ||
| ACKNOWLEDGMENT | 573 | ||
| REFERENCES | 573 | ||
| Chapter 41 Fetal platelet disorders | 578 | ||
| INTRODUCTION | 578 | ||
| NON-IMMUNE CAUSES FOR FETAL/NEONATAL THROMBOCYTOPENIA | 578 | ||
| IMMUNE CAUSES FOR FETAL/NEONATAL THROMBOCYTOPENIA | 579 | ||
| AUTOIMMUNE OR IDIOPATHIC THROMBOCYTOPENIA (ITP) | 579 | ||
| FETAL AND NEONATAL ALLOIMMUNE THROMBOCYTOPENIA (FNAIT) | 581 | ||
| DIAGNOSIS | 584 | ||
| CONCLUSION | 587 | ||
| REFERENCES | 587 | ||
| Chapter 42 Treatable fetal endocrine and metabolic disorders | 592 | ||
| INTRODUCTION | 592 | ||
| ENDOCRINE DISORDERS | 592 | ||
| INBORN ERRORS OF METABOLISM | 595 | ||
| MULTIFACTORIAL DISORDERS | 597 | ||
| PHARMACOLOGIC AND NUTRITIONAL APPROACHES | 598 | ||
| CONCLUSION | 599 | ||
| REFERENCES | 599 | ||
| Chapter 43 Early pregnancy failure | 602 | ||
| INTRODUCTION | 602 | ||
| INCIDENCE OF PREGNANCY LOSS IN HUMANS | 602 | ||
| THE ETIOLOGY OF EPF | 603 | ||
| ROLE OF HISTOPATHOLOGICAL ANALYSIS IN EARLY PREGNANCY FAILURE | 606 | ||
| CLINICAL ASSESSMENT OF EPL AND TERMINOLOGY | 607 | ||
| THE ROLE OF ENDOCRINOLOGY | 608 | ||
| CLINICAL AND ULTRASOUND CRITERIA USED TO DIAGNOSE EPF | 608 | ||
| FIRST-TRIMESTER MARKERS OF ANEUPLOIDY | 612 | ||
| THE MANAGEMENT OF EARLY PREGNANCY FAILURE | 613 | ||
| THE ROLE OF THE EARLY PREGNANCY UNIT | 614 | ||
| REFERENCES | 614 | ||
| Chapter 44 Fetal infections | 620 | ||
| CYTOMEGALOVIRUS (CMV) | 620 | ||
| FETAL PARVOVIRUS B19 INFECTION | 625 | ||
| FETAL RUBELLA INFECTION | 627 | ||
| CHICKENPOX-ZOSTER VIRUS | 629 | ||
| FETAL TOXOPLASMOSIS | 631 | ||
| FETAL SYPHYLIS INFECTION | 634 | ||
| REFERENCES | 636 | ||
| Chapter 45 Amniotic fluid | 642 | ||
| INTRODUCTION | 642 | ||
| AMNIOTIC FLUID | 642 | ||
| METHODS OF AMNIOTIC FLUID VOLUME ASSESSMENT | 642 | ||
| OLIGOHYDRAMNIOS | 644 | ||
| POLYHYDRAMNIOS | 645 | ||
| REFERENCES | 647 | ||
| Chapter 46 Multiple pregnancy | 649 | ||
| INTRODUCTION | 649 | ||
| PRENATAL DIAGNOSIS | 650 | ||
| COMPLICATIONS SPECIFIC TO MONOCHORIONIC PREGNANCIES | 654 | ||
| COMPLICATIONS COMMON TO BOTH MONOCHORIONIC AND DICHORIONIC PREGNANCIES | 662 | ||
| REDUCTION | 665 | ||
| HIGHER ORDER MULTIPLE PREGNANCIES | 667 | ||
| CONCLUSIONS | 670 | ||
| REFERENCES | 670 | ||
| Chapter 47 In utero stem cell transplantation | 678 | ||
| INTRODUCTON | 678 | ||
| IN UTERO TRANSPLANTATION OF STEM CELLS | 679 | ||
| STEM CELL BIOLOGY | 680 | ||
| CONCLUSIONS | 684 | ||
| REFERENCES | 684 | ||
| Chapter 48 Fetal gene therapy | 689 | ||
| INTRODUCTION | 689 | ||
| WHAT IS GENE THERAPY? | 689 | ||
| IS THERE A NEED FOR FETAL GENE THERAPY? | 689 | ||
| WHICH DISEASES COULD FETAL GENE THERAPY BE USED FOR? | 690 | ||
| HOW MIGHT FETAL GENE THERAPY BE APPLIED? | 691 | ||
| WHAT ARE THE RISKS OF FETAL GENE THERAPY? | 693 | ||
| HOW MIGHT FETAL GENE THERAPY WORK? | 695 | ||
| CHALLENGES FOR THE FUTURE | 696 | ||
| SUMMARY | 696 | ||
| REFERENCES | 696 | ||
| SECTION 9 The neonate | 701 | ||
| Chapter 49 Interface of fetal and neonatal medicine | 703 | ||
| INTRODUCTION | 703 | ||
| VERY PRETERM BIRTH | 703 | ||
| BRAIN LESIONS IN VERY PRETERM INFANTS | 706 | ||
| HYPOXIC-ISCHEMIC BRAIN DAMAGE IN TERM INFANTS | 707 | ||
| REFERENCES | 709 | ||
| Self-assessment scenarios | 711 | ||
| Appendix: Charts of fetal measurements | 721 | ||
| INTRODUCTION | 721 | ||
| TABLES AND CHARTS | 721 | ||
| REFERENCES | 721 | ||
| LIST OF TABLES AND CHARTS | 722 | ||
| Index | 767 | ||
| A | 767 | ||
| B | 768 | ||
| C | 768 | ||
| D | 770 | ||
| E | 771 | ||
| F | 771 | ||
| G | 772 | ||
| H | 772 | ||
| I | 773 | ||
| J | 774 | ||
| K | 774 | ||
| L | 774 | ||
| M | 774 | ||
| N | 775 | ||
| O | 776 | ||
| P | 776 | ||
| Q | 777 | ||
| R | 778 | ||
| S | 778 | ||
| T | 779 | ||
| U | 780 | ||
| V | 780 | ||
| W | 780 | ||
| X | 780 | ||
| Y | 780 | ||
| Z | 780 |