Chapter
Opening the Heart In Situ
REMOVAL OF THE EXTERNAL GENITALIA
EXAMINATION OF THE CARDIAC CONDUCTION SYSTEM
REMOVING THE SPINAL CORD – ANTERIOR APPROACH
REMOVING THE BRAIN AND SPINAL CORD INTACT – POSTERIOR APPROACH
REMOVING THE TEMPORAL BONE
DISSECTING THE ORGAN BLOCK
PERFUSION FIXATION AND WINDOWING OF THE HEART
DILATATION AND EVACUATION
Part I. Ultrasound of Embryo and Fetus: General Principles
PHYSICS AND SAFETY CONSIDERATIONS
Routine Antepartum Sonography
Indications for Antenatal Sonography
Assessment of Fetal Well-being
Sonographic Study Profiles
Components of Sonographic Studies
Prenatal Diagnostic Screening
Clinical Significance of Anomalous Findings
Special Considerations on Early Pregnancy Sonography
SUMMARY OF ULTRASOUND EVALUATION IN PREGNANCY
Part II. Major Organ System Malformations
ULTRASONOGRAPHY OF THE HEAD AND NECK
Syndromic Associations of Gastrointestinal Anomalies
Targeted Fetal Echocardiography
Fetal Cardiac Dysrhythmias
Part III. Advances in First Trimester Ultrasound
MORPHOLOGICAL DEVELOPMENT OF THE EMBRYO
FETAL NUCHAL TRANSLUCENCY AND THE USE OF THREE-DIMENSIONAL ULTRASOUND
FIVE Abnormalities of Placenta
ABNORMAL PLACENTAL WEIGHT
PLACENTA ACCRETA, INCRETA, PERCRETA
MATERNAL FLOOR INFARCTION
NONHYDROPIC VILLOUS EDEMA
NUCLEATED RED BLOOD CELLS AND FETAL VESSELS
INTERVILLOUS FIBRIN DEPOSITION
ABNORMAL CELLS IN THE INTERVILLOUS SPACE
EXTRACHORIAL PRESENTATION
CHORIONIC VASCULAR THROMBOSIS
Velamentous Insertion of the Cord
UMBILICAL VASCULAR THROMBOSIS
Complete Hydatidiform Mole (CMM)
Partial Hydatidiform Mole (PHM)
SIX Chromosomal Abnormalities in the Embryo and Fetus
MONOSOMY X (TURNER SYNDROME)
CONFINED PLACENTAL MOSAICISM
SEVEN Terminology of Errors of Morphogenesis
Mild Malformations Versus Minor Anomalies
Polytopic Developmental Field Defect (PFD)
MURCS Association (Polytopic Field Defect)
CHARGE Association (Polytopic Field Defect)
Schisis Association (Polytopic Field Defect)
Disruption (See Chapter on Disruptions)
Prune-Belly Sequence and Related Defects
Dysplasia (See Chapter 9)
PERIODS OF HUMAN DEVELOPMENT
EIGHT Malformation Syndromes
Hanhart and Poland-Möbius Complexes
Beckwith-Wiedemann Syndrome (BWS) (OMIM #130650)
Meckel Syndrome (OMIM *249000)
Brachmann-De Lange Syndrome (OMIM 112370)
Dubowitz Syndrome (OMIM #223370)
Robinow (Fetal Face) Syndrome (OMIM *180700)
Opitz (GBBB) Syndrome (OMIM *300000)
Mandibulofacial Dysostosis (Treacher Collins syndrome) (OMIM #154500) – (See Also Craniofacial Chapter)
Roberts Syndrome (OMIM *268300)
Rubinstein-Taybi Syndrome (OMIM #180849)
Smith-Lemli-Opitz Syndrome (SLO syndrome) (OMIM #270400)
Leprechaunism (OMIM #246200)
Williams Syndrome (OMIM #194050)
Holt-Oram Syndrome (HOS) (OMIM #142900)
Thrombocytopenia – Aplasia of Radius (TAR Syndrome) (OMIM *274000)
Focal Dermal Hypoplasia (Goltz Syndrome) (OMIM *305600)
Hydrolethalus Syndrome (See CNS Chapter) (OMIM *236680)
Menkes Kinky Hair Syndrome (OMIM #309400)
Seckel Syndrome (OMIM *210600)
Zellweger Syndrome (ZS) (OMIM #214100)
Fryns (anophthalmia-plus) Syndrome (OMIM *229850)
Batsocas-Papas Syndrome (Popliteal Pterygium syndrome) (119500)
CONNECTIVE TISSUE DYSPLASIAS
Neurofibromatosis (von Recklinghausen Disease) (OMIM *162200)
Tuberous Sclerosis (See Also Renal Chapter) (TS) (OMIM #191100)
von Hippel-Lindau Disease (See Also Renal Chapter) (vHL) (OMIM *193300)
Marfan Syndrome (OMIM #154700)
PROTEUS SYNDROME (OMIM 176920)
Pallister-Hall Syndrome (Hamartoblastoma Syndrome) (OMIM # 146510)
Gorlin Syndrome (Basal Cell Carcinoma Syndrome [BCNS]) (OMIM #109400)
Beckwith-Wiedemann Syndrome (OMIM *130650) (See Chapter 8) (Table 9.17)
Multiple Endocrine Neoplasia (MEN) (OMIM #171400)
Multiple Hamartoma (Cowden) Syndrome (OMIM #158350)
METABOLIC DYSPLASIA SYNDROMES (SEE CHAPTER 24)
TEN Disruptions and Amnion Rupture Sequence
TYPES OF DISRUPTIONS AFFECTING MORPHOGENESIS OF THE DEVELOPING EMBRYO AND FETUS
Congenital Syphilis (See Infection Chapter)
DRUGS AS CAUSES FOR DISRUPTION
Diethylstilbestrol Embryopathy (DES)
Anticonvulsant Embryopathy
Angiotensin-Converting Enzyme (ACE) Inhibitors
Vitamin A Congener (Isotretinoin, Etretinate) Embryopathy
Manifestations of Isotretinoin Embryopathy
Folate Antagonist (aminopterin, methotrexate) Embryopathy
LYSERGIC ACID DIETHYLAMIDE (LSD)
SYNTHETIC PROGESTIN EMBRYOPATHY
Maternal Phenylketonuria Embryopathy
Limb/Body Wall Defect (LBWD)
Amnion Disruption Sequence (ADS)
ELEVEN Intrauterine Growth Retardation
FETAL FACTORS CAUSING IUGR
Gestational Age Assessment
Prenatal Sonographic Estimation of Fetal Weight
Types of Markers of Neonatal Growth and Development
Indices of Growth Retardation
Markers for Abnormal Fetal Growth in Multiple Gestation
Sonographic (Antenatal) Markers of Abnormal Fetal Growth
TWELVE Fetal Hydrops and Cystic Hygroma
CYSTIC HYGROMA AND NUCHAL THICKENING
THIRTEEN Central Nervous System Defects
ANENCEPHALY WITHOUT RACHISCHISIS
ANENCEPHALY WITH SPINAL RACHISCHISIS
HOLOPROSENCEPHALY (SEE ALSO CHROMOSOME CHAPTER)
ARNOLD-CHIARI MALFORMATION
DANDY-WALKER MALFORMATION (DWM)
X-LINKED LISSENCEPHALY (XLIS)
Isolated Microcephaly (IMC)
THANATOPHORIC DYSPLASIA WITH CLOVERLEAF SKULL
ABSENCE OF CORPUS CALLOSUM
FOURTEEN Craniofacial Defects
Mandibulofacial Dysostosis (Treacher Collins Syndrome)
Holoprosencephaly (See Chromosome Chapter)
Facial Clefts Ultrasonography
FIFTEEN Skeletal Abnormalities
Osteochondrodysplasias with Platyspondyly (Table 15.4)
Osteochondrodysplasias with Significant Platyspondyly (Table 15.4)
SHORT TRUNK OSTEOCHONDRODYSPLASIAS (TABLE 15.8)
Achondrogenesis (Table 15.9)
Kniest Dysplasia (Table 15.11)
Asphyxiating Thoracic Dysplasia (ATD) (Jeune) (Table 15.12)
Chondroectodermal Dysplasia
Short-Rib Polydactyly Syndromes (Table 15.13)
OSTEOCHONDRODYSPLASIAS WITH ABNORMAL BONE DENSITY
Osteogenesis Imperfecta (OI) (Tables 15.15 and 15.16)
Type II (OI Congenita, OI Fetalis, Vrolik Disease)
CNS Abnormalities in Type II Osteogenesis Imperfecta
Hypophosphatasia (Congenital Lethal Type) (Table 15.17)
MISCELLANEOUS GROUP OF OSTEOCHONDRODYSPLASIAS
Chondrodysplasia Punctata (Table 15.19 and 15.20)
OTHER FORMS OF OSTEOCHONDRODYSTROPHIES
Calcific Stippling of Epiphyses
Limb Reduction Defects (Table 15.24)
SIXTEEN Cardiovascular System Defects
TECHNIQUE OF FETAL ECHOCARDIOGRAPHY
CONGENITAL CARDIAC DEFECTS
Atrial Septal Defects (ASD) (Figure 16.4)
Endocardial Cushion Defects (ECD) (Atrioventricular is Communis, Atrioventricular Canal Defect)
Ventricular Septal Defects (VSD)
Patent Ductus Arteriosus (PDA)
VENOUS ARTERIAL SHUNTS WITH INCREASED PULMONARY BLOOD FLOW
Complete Transposition of Great Vessels (TGA)
Corrected Transposition of the Great Vessels
Partial Anomalous Pulmonary Venous Connection (PAPVC)
Total Anomalous Pulmonary Venous Connection (TAPVC)
Double Outlet Right Ventricle (DORV)
VENOUS-ARTERIAL SHUNTS WITH DECREASED PULMONARY BLOOD FLOW
Tetralogy of Fallot (TOF)
Tricuspid Valve Atresia (TVA) (Hypoplastic Right Heart Complex)
OBSTRUCTIVE LESIONS OF THE RIGHT SIDE OF THE HEART
Pulmonary Stenosis with Intact Ventricular Septum (PS-IVS)
OBSTRUCTIVE LESIONS OF THE LEFT SIDE OF THE HEART
Hypoplastic Left Heart Complex (HLHC)
Anomalous Origin of Left Coronary Artery from Pulmonary Trunk
ABNORMALITIES OF POSITION AND SITUS
PERSISTENT LEFT SUPERIOR VENA CAVA (PLSVC)
ENDOCARDIAL FIBROELASTOSIS (EFE)
CONDUCTION SYSTEM DISORDERS
Histiocytoid (Oncocytic) Cardiomyopathy
Arrhythmogenic Right Ventricular Dysplasia (ARVD)
Noncompaction of Left Ventricle
SURGICAL REPAIR OF CONGENITAL CARDIAC DEFECTS (TABLE 16.7)
SEVENTEEN Respiratory System
RESPIRATORY TRACT ABNORMALITIES
Tracheoesophageal Fistula
Abnormal Pulmonary Fissures and Lobes
Cystic Adenomatoid Malformation of the Lung
Infantile (Congenital) Lobar Emphysema
Congenital Pulmonary Lymphangiectasis (CPL)
Pulmonary Interstitial Emphysema
Capillary Alveolar Dysplasia
Amniotic Fluid and Meconium Aspiration
Cystic Fibrosis (CF) (See Also Chapter 18)
Immotile Cilia Syndrome (ICS) and Kartagener Syndrome (Sinusitis, Bronchiectasis, Situs Inversus)
PRIMARY PULMONARY HYPERTENSION (PERSISTENCE OF FETAL CIRCULATION) (PPH)
Chronic Pneumonitis of Infancy
Pneumonia (See Infectious Disease Chapter)
Pathogenesis of Diaphragmatic Hernia
Laryngotracheal Papillomatosis
EIGHTEEN Gastrointestinal Tract and Liver
ESOPHAGEAL ATRESIA (SEE ALSO CHAPTER 17)
ATRESIA AND STENOSIS OF THE SMALL INTESTINE
VITELLOINTESTINAL DUCT REMNANTS
Necrotizing Enterocolitis (See Also Stillbirth and Neonatal Death)
Hirschsprung Disease (Aganglionic Megacolon)
DEVELOPMENTAL DEFECTS OF THE LIVER
EXTRAHEPATIC BILIARY ATRESIA
α1-ANTITRYPSIN (α1-AT) DEFICIENCY
DEVELOPMENTAL DEFECTS OF THE GALLBLADDER
PAUCITY OF INTRAHEPATIC BILE DUCTS
DEVELOPMENTAL DEFECTS OF THE PANCREAS
Schwachman-Diamond Syndrome
INFANT OF DIABETIC MOTHER (IDM)
ULTRASOUND OF GASTROINTESTINAL TRACT
NINETEEN Genito-Urinary System
RENAL CYSTIC MALFORMATIONS
Infantile Polycystic Kidneys
Adult Polycystic Kidney Disease
Hereditary Renal Adysplasia
Posterior Urethral Valves
Glomerulocystic Kidney Disease
Renal Cysts Associated with Multiple Malformation Syndromes
Tuberous Sclerosis (See Also Dysplasia Chapter)
Zellweger Syndrome (Cerebrohepatorenal Syndrome) (See Also Malformations Syndromes)
Von-Hippel-Lindau Syndrome (See Also Dysplasia Chapter)
Smith-Lemli-Opitz Syndrome (See Also Dysplasia Chapter)
Congenital Renal Tubular Dysgenesis
Congenital Nephrotic Syndrome
Abnormal External Genitalia
ABNORMAL INTERNAL REPRODUCTIVE TRACTS
INTERSEX ABNORMALITIES: (FIGURES 19.48 AND 19.49)
TUMORS OF STRIATED MUSCLE
Ovarian Tumors of Childhood
Juvenile Granulosa Cell Tumor
Fibromatosis/Myofibromatosis
Infantile Digital Fibromatosis
Fibrous Hamartoma of Infancy
Primitive Neuroectodermal Tumor
Melanotic Neuroectodermal Tumor of Infancy
Congenital Adrenal Hyperplasia (Adrenogenital Syndrome)
Medulloblastoma (So-Called PNET of the Cerebellum)
TWENTY ONE Fetal and Neonatal Skin Disorders
SEBORRHEA AND DRY DESQUAMATION
VESICULAR LESIONS IN THE FETUS AND NEWBORN
Toxic Epidermal Necrolysis (Lyell Type)
Staphylococcal Scalded Skin Syndrome (Ritter Disease)
Chronic Bullous Disease of Childhood (CBDC) (Linear IgA Dermatosis)
Acrodermatitis Enteropathica
VESICULOPUSTULAR ERUPTIONS IN THE NEWBORN
Erythema Toxicum Neonatorum (ETN)
Acropustulosis of Infancy
Subcutaneous Fat Necrosis (SFN)
MALFORMATION OF THE SKIN AND ITS APPENDAGES
Sebaceous Nevus of Jadassohn
Linear Sebaceous Nevus Syndrome
Congenital Cutaneous Dystrophy (Rothmund-Thomson Syndrome, Poikiloderma Congenitale)
Focal Dermal Hypoplasia (Goltz Syndrome)
Multiple Pterygia (Fetal Akinesia)
Langerhans Cell Histocytosis
TWENTY TWO Intrauterine Infection
Cytomegalovirus Infection (CMV)
Human Immunodeficiency Virus
Chagas Disease (South American Trypanosomiasis)
Visceral Leishmaniasis (Kala-Azar)
Borreliosis (Lyme Disease)
Campylobacter (Vibrio) fetus Infection
TWENTY THREE Multiple Gestations and Conjoined Twins
TYPES OF TWINS AND THEIR ORIGINS
DETERMINATION OF ZYGOSITY
PLACENTAL ANATOMY OF ZYGOSITY
QUADRUPLETS AND HIGHER MULTIPLES
TWENTY FOUR Metabolic Diseases
LYSOSOMAL LIPID STORAGE DISEASE (TABLE 24.8)
Sphingolipid Storage Diseases
Metachromatic-Leukodystrophy (Autosomal Recessive)
Multiple Sulfatase Deficiency (Austin Disease)
WOLMAN DISEASE AND CHOLESTERYL ESTER STORAGE DISEASES
NEURONAL CEROID LIPOFUSCINOSIS (NCL) (BATTEN DISEASE)
GLYCOGEN STORAGE DISEASES
FATTY ACID β OXIDATION DEFECTS
ABNORMALITIES OF MITOCHONDRIA
DISORDERS OF METAL METABOLISM
Neonatal Iron Storage Disease (Neonatal Hemachromatosis) (6p21.3,AR)
DEFECTS IN COPPER METABOLISM
Wilson Disease (13q14,AR)
ERRORS IN PURINE METABOLISM
Lesh-Nyhan Syndrome (Figure 24.28)
Defects in Renal Transport (Cystinosis)
APPENDIX 1. CYTOGENETIC TERMINOLOGY
APPENDIX 2. TIME PERIODS OF EMBRYONIC AND FETAL DEVELOPMENT IN HUMANS
APPENDIX 3. SUMMARY OF EMBRYONIC DEVELOPMENT
APPENDIX 4. CROWN-RUMP LENGTH AND DEVELOPMENTAL AGE IN PREVIABLE FETUSES
APPENDIX 5. HAND AND FOOT LENGTHS CORRELATED WITH DEVELOPMENTAL AGE IN PREVIABLE FETUSES
APPENDIX 6. WEIGHTS AND MEASUREMENTS OF FETUSES OF 8 TO 26 WEEKS GESTATION (MEAN VALUES)
APPENDIX 7. ORGAN WEIGHTS IN FETUSES FROM 9 TO 20 WEEKS OF DEVELOPMENT
APPENDIX 8A. MEANS AND STANDARD DEVIATIONS OF WEIGHTS AND MEASUREMENTS OF STILLBORN INFANTS
APPENDIX 8B. MEANS AND STANDARD DEVIATIONS OF WEIGHTS AND MEASUREMENTS OF LIVE-BORN INFANTS
APPENDIX 9. THE FETOPLACENTAL EXAMINATION AND THE PATH TO PRIMARY CAUSE
APPENDIX 10. ORGAN WEIGHTS OF CHILDREN
APPENDIX 11. CALCULATED VALUES OF LENGTH OF THE EXTREMITIES AT THE CLOSE OF EACH FETAL MONTH (mm)
APPENDIX 12. CALCULATED VALUES OF EXTERNAL DIMENSIONS OF THE HEAD AT THE CLOSE OF EACH FETAL MONTH (mm)
APPENDIX 13. ORGAN WEIGHT (g) IN RELATION TO TOTAL BODY WEIGHT (g)
APPENDIX 14. AUTOPSY PROTOCOL
APPENDIX 15. NOMOGRAM FOR EVALUATION OF GROWTH OF OCCIPITOFRONTAL DIAMETER
APPENDIX 16. RELATIONSHIP BETWEEN GESTATIONAL AGE AND BIPARIETAL DIAMETER
APPENDIX 17. CORTICAL MANTLE THICKNESS
Embryo and Fetal Pathology
：Color Atlas with Ultrasound Correlation
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