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(BQ) Part 1 book Diagnostic imaging obstetrics presents the following contents: First trimester, brain (abdominal wall and gastrointestinal tract, midline developmental anomalies, cranial defects,...), spine, face and neck, chest, abdominal wall and gastrointestinal tract.
Diagnostic Imaging Obstetrics, 2nd Edition Diagnostic Imaging Obstetrics, 2nd Edition Table of Contents Diagnostic Imaging Obstetrics, 2nd Edition Cover Authors Dedication 10 Preface 10 Acknowledgements 11 Section - First Trimester .12 I Introduction and Overview .12 Embryology and Anatomy of the First Trimester 12 Approach to the First Trimester 27 II Intrauterine Gestation 32 Failed First Trimester Pregnancy 32 Perigestational Hemorrhage 39 Chorionic Bump 45 III Ectopic Gestation 48 Tubal Ectopic .48 Interstitial Ectopic .58 Cervical Ectopic 64 C-Section Scar Ectopic 71 10 Abdominal Ectopic 74 11 Heterotopic Pregnancy 77 Section - Brain 80 I Introduction and Overview .80 12 Embryology and Anatomy of the Brain 80 13 Approach to the Supratentorial Brain 99 14 Approach to the Posterior Fossa 107 II Cranial Defects 116 15 Exencephaly, Anencephaly 116 16 Acalvaria, Acrania 122 17 Occipital, Parietal Cephalocele 128 18 Frontal Cephalocele .137 III Midline Developmental Anomalies .141 19 Agenesis of the Corpus Callosum .141 20 Atelencephaly, Aprosencephaly .147 21 Alobar Holoprosencephaly 153 22 Semilobar Holoprosencephaly 160 23 Lobar Holoprosencephaly 166 24 Septo-Optic Dysplasia 172 25 Syntelencephaly 178 IV Cortical Developmental Anomalies .184 26 Schizencephaly 184 27 Lissencephaly 191 28 Gray Matter Heterotopia 197 29 Pachygyria, Polymicrogyria 200 V Cysts .206 30 Choroid Plexus Cyst 206 31 Arachnoid Cyst 213 32 Glioependymal Cyst .219 VI Destructive Lesions 226 33 Intracranial Hemorrhage 226 34 Encephalomalacia, Porencephaly 232 Diagnostic Imaging Obstetrics, 2nd Edition 35 Hydranencephaly 239 VII Posterior Fossa Malformations 245 36 Aqueductal Stenosis 245 37 Chiari 252 38 Chiari 259 39 Dandy-Walker Malformation 262 40 Vermian Agenesis - Partial Or Complete 268 41 Blake Pouch Cyst .272 42 Mega Cisterna Magna 278 43 Cerebellar Hypoplasia 281 44 Rhombencephalosynapsis .287 VIII Vascular Malformations .290 45 Vein of Galen Malformation 290 46 Arteriovenous Fistula 296 47 Dural Sinus Malformation 300 IX Tumors .303 48 Parenchymal Brain Tumors 303 49 Choroid Plexus Papilloma 309 50 Lipoma 313 Section - Spine 316 51 Embryology and Anatomy of the Spine 316 52 Approach to the Fetal Spine 327 53 Spina Bifida 329 54 Iniencephaly 336 55 Caudal Regression Sequence .343 56 Kyphosis, Scoliosis .350 57 Tethered Cord .357 58 Diastematomyelia .360 59 Sacrococcygeal Teratoma 363 Section - Face and Neck .369 60 Embryology and Anatomy of the Face and Neck 369 61 Approach to the Fetal Face and Neck 383 62 Cleft Lip, Palate 389 63 Absent Nasal Bone 399 64 Dacrocystocele 406 65 Coloboma 409 66 Epignathus 412 67 Goiter 418 68 Cystic Hygroma 425 69 Cervical Teratoma .432 Section - Chest 438 70 Embryology and Anatomy of the Chest 438 71 Approach to the Fetal Chest 449 72 Congenital Diaphragmatic Hernia 452 73 Congenital Pulmonary Airway Malformation .459 74 Pleural Effusion 465 75 Bronchopulmonary Sequestration .472 76 Bronchogenic Cyst .479 77 Congenital High Airway Obstruction Sequence 482 78 Pulmonary Agenesis 485 79 Lymphangioma 488 80 Mediastinal, Pulmonary Teratoma .495 Section - Heart 498 I Introduction and Overview 498 Diagnostic Imaging Obstetrics, 2nd Edition 81 Embryology and Anatomy of the Cardiovascular System 498 82 Approach to the Fetal Heart 515 II Abnormal Location 524 83 Situs Inversus 524 84 Heterotaxy, Cardiosplenic Syndromes .527 85 Ectopia Cordis 533 III Septal Defects 540 86 Ventricular Septal Defect 540 87 Atrioventricular Septal Defect 543 88 Foramen Ovale Aneurysm .549 IV Right Heart Malformations 553 89 Ebstein Anomaly 553 90 Tricuspid Dysplasia 556 91 Tricuspid Atresia 559 92 Pulmonary Stenosis, Atresia 562 V Left Heart Malformations 568 93 Hypoplastic Left Heart .568 94 Coarctation and Interrupted Aortic Arch 575 95 Aortic Stenosis .581 96 Double Inlet Left Ventricle .588 VI Conotruncal Malformations 591 97 Tetralogy of Fallot 591 98 Transposition of the Great Arteries 598 99 Truncus Arteriosus 604 100 Double Outlet Right Ventricle 611 VII Myocardial and Pericardial Abnormalities 614 101 Echogenic Cardiac Focus 614 102 Hypertrophic Cardiomyopathy .618 103 Dilated Cardiomyopathy 624 104 Rhabdomyoma 631 105 Pericardial Effusion 637 106 Pericardial Teratoma .641 VIII Abnormal Rhythm 644 107 Irregular Rhythm 644 108 Tachyarrhythmia 647 109 Bradyarrhythmia 653 Section - Abdominal Wall and Gastrointestinal Tract 660 I Introduction and Overview 660 110 Embryology and Anatomy of the Abdominal Wall and GI Tract 660 111 Approach to the Abdominal Wall and Gi Tract .674 II Abdominal Wall Defects 682 112 Gastroschisis 682 113 Omphalocele 688 114 Pentalogy of Cantrell .695 115 Body Stalk Anomaly .698 116 Bladder Exstrophy 705 117 Cloacal Exstrophy - OEIS Syndrome 708 III Bowel Abnormalities 714 118 Esophageal Atresia 714 119 Duodenal Atresia 720 120 Jejunal Ileal Atresia 727 121 Anal Atresia 733 122 Cloacal Malformation 739 123 Volvulus 746 Diagnostic Imaging Obstetrics, 2nd Edition 124 Enteric Duplication Cyst 749 IV Peritoneal Abnormalities .752 125 Ascites 752 126 Meconium Peritonitis, Pseudocyst 759 127 Mesenteric Cyst 765 V Hepatobiliary Abnormalities 769 128 Gallstones .769 129 Choledochal Cyst 772 130 Infantile Hemangioendothelioma 775 131 Mesenchymal Hamartoma 781 132 Malignant Liver Tumors 785 Section - Genitourinary Tract .791 I Introduction and Overview 791 133 Embryology and Anatomy of the Genitourinary Tract 791 134 Approach to the Fetal Genitourinary Tract .808 II Renal Developmental Variants 813 135 Unilateral Renal Agenesis 813 136 Duplicated Collecting System .817 137 Pelvic Kidney 823 138 Horseshoe Kidney 826 139 Crossed Fused Ectopia 829 III Renal Malformations 833 140 Bilateral Renal Agenesis .833 141 Mild Pelviectasis 839 142 Ureteropelvic Junction Obstruction .846 143 Urinoma 853 144 Obstructive Renal Dysplasia 856 145 Multicystic Dysplastic Kidney 863 146 Autosomal Recessive Polycystic Kidney Disease .870 147 Mesoblastic Nephroma 876 IV Adrenal Abnormalities 882 148 Adrenal Hemorrhage .882 149 Neuroblastoma .886 V Bladder Malformations 892 150 Posterior Urethral Valves .892 151 Prune Belly Syndrome 898 152 Ureterocele 905 153 Urachal Anomalies .911 VI Genital Abnormalities 917 154 Ambiguous Genitalia .917 155 Hypospadias 928 156 Hydrocele 931 157 Testicular Torsion 934 158 Inguinal Hernia 938 159 Ovarian Cyst 941 160 Hydrocolpos 947 Section - Musculoskeletal 951 I Dysplasias 951 161 Approach to Skeletal Dysplasias 951 162 Achondrogenesis, Hypochondrogenesis 962 163 Achondroplasia .971 164 Amelia, Micromelia .978 165 Asphyxiating Thoracic Dysplasia 984 166 Atelosteogenesis 990 Diagnostic Imaging Obstetrics, 2nd Edition 167 Campomelic Dysplasia 993 168 Chondrodysplasia Punctata 999 169 Hypophosphatasia 1005 170 Osteogenesis Imperfecta 1008 171 Short Rib-Polydactyly Syndrome 1015 172 Thanatophoric Dysplasia 1018 II Extremity Malformations 1027 173 Clubfoot 1027 174 Rockerbottom Foot 1034 175 Sandal Gap Foot 1037 176 Radial Ray Malformation 1040 177 Clinodactyly 1047 178 Polydactyly 1050 179 Syndactyly 1057 180 Split Hand - Foot Malformation 1063 181 Arthrogryposis, Akinesia Sequence 1070 182 Proximal Focal Femoral Dysplasia 1079 Section 10 - Placenta, Membranes, and Umbilical Cord 1086 I Introduction and Overview 1086 183 Approach to the Placenta and Umbilical Cord 1086 II Placenta and Membrane Abnormalities 1095 184 Placental Abruption 1095 185 Placenta Previa 1102 186 Vasa Previa 1109 187 Placenta Accreta Spectrum 1112 188 Placental Lake, Intervillous Thrombus 1119 189 Succenturiate Lobe 1126 190 Circumvallate Placenta 1129 191 Marginal Cord Insertion 1133 192 Velamentous Cord Insertion 1136 193 Chorioangioma 1140 194 Placental Teratoma 1146 195 Chorioamniotic Separation 1150 III Umbilical Cord Abnormalities 1153 196 Single Umbilical Artery 1153 197 Umbilical Cord Cyst 1161 198 Umbilical Vein Varix 1168 199 Umbilical Artery Aneurysm 1174 200 Persistent Right Umbilical Vein 1178 201 Umbilical Vessel Thrombosis 1181 Section 11 - Multiple Gestations 1185 202 Approach to Multiple Gestations 1185 203 Dichorionic Diamniotic Twins 1190 204 Monochorionic Diamniotic Twins 1196 205 Monochorionic Monoamniotic Twins 1203 206 Discordant Twin Growth 1209 207 Twin-Twin Transfusion Syndrome 1215 208 Twin Reversed Arterial Perfusion 1221 209 Conjoined Twins 1227 210 Triplets and Beyond 1233 211 Fetus-in-Fetu 1239 Section 12 - Aneuploidy 1245 212 Screening for Aneuploidy 1245 213 Trisomy 21 1251 Diagnostic Imaging Obstetrics, 2nd Edition 214 Trisomy 18 1261 215 Trisomy 13 1271 216 Turner Syndrome 1281 217 Triploidy 1288 Section 13 - Syndromes and Multisystem Disorders 1295 218 22Q11 Deletion Syndrome 1295 219 Aicardi Syndrome 1298 220 Amniotic Band Syndrome 1304 221 Apert Syndrome 1311 222 Beckwith-Wiedemann Syndrome 1317 223 Carpenter Syndrome 1323 224 CHARGE Syndrome 1326 225 Cornelia De Lange Syndrome 1329 226 Cystic Fibrosis 1333 227 Diabetic Embryopathy 1336 228 Fryns Syndrome 1342 229 Holt-Oram Syndrome 1345 230 Joubert Syndrome 1351 231 Meckel-Gruber Syndrome 1354 232 Multiple Pterygium Syndromes 1360 233 Neu-Laxova Syndrome 1364 234 PHACES Syndrome 1367 235 Pfeiffer Syndrome 1370 236 Pierre Robin Anomaly 1376 237 Sirenomelia 1379 238 Smith-Lemli-Opitz Syndrome 1385 239 Tuberous Sclerosis 1392 240 VACTERL Association 1398 241 Valproate Embryopathy 1405 242 Warfarin Embryopathy 1408 243 Walker-Warburg Syndrome 1411 Section 14 - Infection 1414 244 Cytomegalovirus 1414 245 Parvovirus 1420 246 Toxoplasmosis 1424 247 Varicella 1426 Section 15 - Fluid, Growth, and Well-Being 1430 248 Approach to Fetal Well-Being 1430 249 Polyhydramnios 1438 250 Oligohydramnios 1445 251 Intrauterine Growth Restriction 1452 252 Macrosomia 1459 253 Hydrops 1462 254 Fetal Anemia 1469 Section 16 - Maternal Conditions in Pregnancy 1476 I Gestational Trophoblastic Disease 1476 255 Complete Hydatidiform Mole 1476 256 Invasive Mole 1483 257 Choriocarcinoma 1486 II Uterus 1492 258 Incompetent Cervix 1492 259 Myoma in Pregnancy 1499 260 MüLlerian Duct Anomalies in Pregnancy 1506 261 Synechiae 1513 Diagnostic Imaging Obstetrics, 2nd Edition 262 Uterine Rupture 1516 III Ovary 1523 263 Corpus Luteum Cyst 1523 264 Theca Lutein Cysts 1526 265 Hyperstimulation Syndrome 1532 IV Gastrointestinal and Genitourinary Tracts 1539 266 Appendicitis in Pregnancy 1539 267 HELLP Syndrome 1542 268 Maternal Hydronephrosis 1548 Section 17 - Postpartum Complications 1555 269 Retained Products of Conception 1555 270 Endometritis 1558 271 Bladder Flap Hematoma 1561 272 Ovarian Vein Thrombosis 1564 Index 1571 0-9 1571 A 1571 B 1573 C 1576 D 1579 E 1581 F 1582 G 1584 H 1585 I 1588 J 1589 K 1589 L 1589 M 1590 N 1592 O 1593 P 1594 Q 1596 R 1596 S 1597 T 1600 U 1602 V 1604 W 1605 Y 1605 Z 1605 Diagnostic Imaging Obstetrics, 2nd Edition Diagnostic Imaging Obstetrics, 2nd Edition Cover Authors Authors Paula J Woodward MD Professor of Radiology David G Bragg, MD and Marcia R Bragg Presidential Endowed Chair in Oncologic Imaging University of Utah School of Medicine Salt Lake City, UT Anne Kennedy MD Professor of Radiology Adjunct Professor of Obstetrics and Gynecology Executive Vice Chair of Radiology Co-Director of Maternal Fetal Diagnostic Center University of Utah School of Medicine Salt Lake City, UT Roya Sohaey MD Professor of Radiology Professor of Obstetrics and Gynecology Director of Ultrasound Diagnostic Imaging Obstetrics, 2nd Edition Oregon Health and Science University Portland, OR Janice L B Byrne MD Associate Professor of Obstetrics and Gynecology/Maternal-Fetal Medicine Adjunct Associate Professor of Pediatrics/Medical Genetics Director of Fetal-Neonatal Treatment Program University of Utah School of Medicine Salt Lake City, UT Karen Y Oh MD Associate Professor of Radiology Associate Professor of Obstetrics and Gynecology Director of Breast Imaging Oregon Health and Science University Portland, OR Michael D Puchalski MD Associate Professor of Pediatrics Adjunct Associate Professor of Radiology Director of Noninvasive Imaging University of Utah School of Medicine Salt Lake City, UT Thomas C Winter III MD Professor of Radiology Adjunct Professor of Obstetrics and Gynecology Director of Body Imaging University of Utah School of Medicine Salt Lake City, UT Logan A McLean MD Neuroradiology Fellow University of Utah School of Medicine Salt Lake City, UT Contributing Authors Akram M Shaaban, MBBCh David Holznagel, MD Nelangi Pinto, MD Asha Sarma, BA Nicole Winkler, MD Marcia L Feldkamp, PhD, PA Antonio E Frias, Jr., MD Shawn E Gurtcheff, MD, MS Sonographers Brooke Axberg, RDMS Jeanne Baker, RDMS Kara Bridges, RDMS Jenny Burke, RDMS Angie Crist, RDMS Chelsea Day, RDMS Porsche Fletcher, RDMS Danielle Galbreath, RDMS Kristina Gudonaviciute, RDMS Pam Guy, RDMS Deanna Hecker, RDMS Adrian Lethbridge, RDMS Naomi Maggio, RDMS Diagnostic Imaging Obstetrics, 2nd Edition Hypoechoic, hyperechoic, or mixed echogenicity Hydrops may develop from arteriovenous shunting or Kasabach-Merritt sequence (hemolytic anemia, thrombocytopenia, and consumptive coagulopathy) Increased flow on color/power Doppler Enlarged draining vein or inferior vena cava Top Differential Diagnoses Hepatoblastoma Mesenchymal hamartoma Pathology 10-50% of fetuses with hemangioendotheliomas have hemangiomata elsewhere Liver, spleen, cutaneous most common Clinical Issues Most common fetal liver tumor Tumors commonly regress and involute after 1st months of life Excellent prognosis for those who present with asymptomatic mass Those with high-output congestive heart failure or consumptive coagulopathy require aggressive treatment Corticosteroids first-line treatment if symptomatic Corticosteroids have also been successfully used in fetuses with rapidly growing masses (Left) Axial T2WI MR at 34 weeks shows a large, welldefined, mildly hyperintense mass within the normal low signal fetal liver (Right) Sagittal oblique ultrasound of the same fetus shows a hyperechoic mass with “cystic” areas within it It is important to use color Doppler to look for flow A clue to the vascular nature of the mass on this grayscale image is the large draining vein (Doppler did confirm flow) The fetus was followed carefully, began to show signs of hydrops at 38 weeks, and was thus delivered 776 Diagnostic Imaging Obstetrics, 2nd Edition (Left) Clinical photograph in the same case, immediately after delivery, shows an obvious abdominal bulge from the large liver mass (Right) An ultrasound of the liver was performed on the 1st day of life and showed similar findings to the prenatal scan There is dramatic arteriovenous shunting within the mass, typical of a hemangioendothelioma The infant stabilized and was treated conservatively Hemangioendotheliomas often regress after the 1st months of life and usually not require surgical resection P.7:79 TERMINOLOGY Synonyms Histogenesis of benign vascular liver tumors is not completely clear, which has led to some confusion in terminology Various terms in the literature likely describe same lesion Infantile hemangioendothelioma Infantile cavernous hemangioma Hemangioendothelioma Hemangioma Hepatic arteriovenous malformation Definitions Infantile hemangioendothelioma describes a histologically distinct lesion composed of large, endothelial-lined vascular channels Histologic type most commonly seen in fetuses and neonates Histologically distinct from a hemangioma Both infantile hemangioendothelioma and hemangiomata may occur concurrently IMAGING General Features Best diagnostic clue Heterogeneous, hypervascular liver mass Size Variable Those detected in utero are typically large Morphology Well-defined, solid mass that often has central area of necrosis and fibrosis, especially when large Large vessels may give cystic appearance Multiple lesions much less common Ultrasonographic Findings 777 Diagnostic Imaging Obstetrics, 2nd Edition Grayscale ultrasound Well-defined mass Variable sonographic appearance Hypoechoic, hyperechoic, or mixed echogenicity Anechoic regions may be seen, related to dilated vascular spaces Hydrops may develop from Arteriovenous shunting, causing high-output failure Kasabach-Merritt sequence Hemolytic anemia, thrombocytopenia, and consumptive coagulopathy Cardiomegaly Polyhydramnios Color Doppler Vascular masses with significant arteriovenous shunting Increased flow on color/power Doppler Enlarged draining vein or inferior vena cava MR Findings T1WI Low signal intensity relative to normal liver and spleen May see hyperintense areas related to hemorrhage T2WI Typically high in signal Prominent flow void within and around lesion from feeding/draining vessels Heterogeneous signal intensity if hemorrhage present May have areas of low signal related to fibrosis Imaging Recommendations Protocol advice Close interval follow-up to look for growth and hydrops DIFFERENTIAL DIAGNOSIS Hepatoblastoma Solid, echogenic mass Pseudocapsule around lesion creates well-defined borders Spoke-wheel appearance described with alternating hypo- and hyperechoic areas Moderate vascularity by color Doppler Mesenchymal Hamartoma Predominately cystic or mixed cystic/solid mass Multiple septations give “Swiss cheese” appearance Cysts may be anechoic or filled with echogenic material Color Doppler will show no flow within these cystic areas Metastatic Neuroblastoma Multiple or diffusely infiltrating liver masses Potentially mimic for multifocal hemangioendothelioma Look for solid, suprarenal mass PATHOLOGY General Features Etiology Vascular malformation vs failure of developing tissues to undergo normal cytodifferentiation and maturation Genetics Sporadic Associated abnormalities 10-50% of fetuses with hemangioendotheliomas have hemangiomata elsewhere Liver, spleen, cutaneous most common These are often missed on prenatal imaging Coexistent placental hemangioendotheliomas reported 778 Diagnostic Imaging Obstetrics, 2nd Edition Microscopic Features Lesion composed of large, endothelial-lined vascular channels As with other vascular malformations, confusion about nomenclature Proliferative phase characterized by hypercellularity and endothelial cell proliferation Involutional phase characterized by dilated vascular spaces (cavernous appearance) P.7:80 CLINICAL ISSUES Presentation Fetal presentation Right upper quadrant mass Hydrops Elevated α-fetoprotein Polyhydramnios Postnatal presentation Palpable mass Abdominal distention Intestinal obstruction Respiratory distress High-output congestive heart failure Kasabach-Merritt syndrome: Consumptive coagulopathy (thrombocytopenia) Jaundice Elevated transaminase levels About half of infants also have cutaneous hemangiomata May prompt abdominal ultrasound to look at liver Demographics Age Fetus Detected as early as 16 weeks Most seen in 3rd trimester Postnatal 85% present by months of age Gender F:M = 2:1 Epidemiology ˜ 5% of fetal tumors occur in liver Most common fetal liver tumor In a series of 194 perinatal liver tumors, 60% were hemangioendotheliomas Natural History & Prognosis Rapid, proliferative growth in 1st months of life Significant vascular shunting may lead to congestive heart failure Tumors commonly regress and involute after months of age Excellent prognosis for those who present with asymptomatic mass Those with high-output congestive heart failure or consumptive coagulopathy require aggressive treatment This usually occurs in very large or multifocal masses Rare reports of malignant sarcoma transformation Treatment May not require treatment if asymptomatic Often spontaneously regress Follow monthly with ultrasound Corticosteroids first line of treatment if symptomatic Thought to cause vasoconstriction of aberrant vessels 779 Diagnostic Imaging Obstetrics, 2nd Edition Corticosteroids have been successfully used in fetuses with rapidly growing masses Both maternal administration and direct umbilical vein injection have been described α-interferon (anti-angiogenesis) In life-threatening cases Transarterial embolization Surgical resection DIAGNOSTIC CHECKLIST Image Interpretation Pearls Beware of “cystic” hepatic mass Always use color Doppler to look for flow Differentiates hemangioendothelioma from mesenchymal hamartoma Hemangioendothelioma most likely diagnosis for vascular intrahepatic mass SELECTED REFERENCES Makin E et al: Fetal and neonatal liver tumours Early Hum Dev 86(10):637-42, 2010 Schmitz R et al: Antenatal diagnosis of a giant fetal hepatic hemangioma and treatment with maternal corticosteroid Ultraschall Med 2009 Jun;30(3):223-6 Epub 2009 Jun English, German Erratum in: Ultraschall Med 30(3):226, 2009 Walsh MA et al: Kaposiform hemangioendothelioma presenting antenatally with a pericardial effusion J Pediatr Hematol Oncol 30(10):761-3, 2008 Isaacs H Jr: Fetal and neonatal hepatic tumors J Pediatr Surg 42(11):1797-803, 2007 Woodward PJ et al: From the archives of the AFIP: a comprehensive review of fetal tumors with pathologic correlation Radiographics 25(1):215-42, 2005 Martinez AE et al: Kaposiform hemangioendothelioma associated with nonimmune fetal hydrops Arch Pathol Lab Med 128(6):678-81, 2004 Meirowitz NB et al: Hepatic hemangioendothelioma: prenatal sonographic findings and evolution of the lesion J Clin Ultrasound 28(5):258-63, 2000 Mhanni AA et al: Fetal hepatic haemangioendothelioma: a new association with elevated maternal serum alphafetoprotein Prenat Diagn 20(5):432-5, 2000 Marton T et al: Multifocal hemangioendothelioma of the fetus and placenta Hum Pathol 28(7):866-9, 1997 10 Keslar PJ et al: From the archives of the AFIP Infantile hemangioendothelioma of the liver revisited Radiographics 13(3):657-70, 1993 P.7:81 Image Gallery (Left) Axial ultrasound through the fetal abdomen shows an irregular, heterogeneous mass essentially replacing the liver This is a large hemangioendothelioma (Right) Postnatal radiograph in the same case 780 Diagnostic Imaging Obstetrics, 2nd Edition shows obvious congestive heart failure with cardiac enlargement and soft tissue edema Also note the fullness in the right upper quadrant and displacement of bowel loops caused by the enlarged liver This infant died and went on to autopsy (Left) Cut specimen of the liver from the same case autopsy shows areas of fibrosis and hemorrhage Histology confirmed a hemangioendothelioma (Right) A photograph of the feet in the same case shows a raised hemangioma on the plantar aspect of one foot and other smaller hemangiomas on the heel of the other foot (Left) Axial CECT shows a large, vascular mass occupying the left hepatic lobe The hepatic artery is enlarged , as is often the case with a hemangioendothelioma (Right) Axial T2WI MR shows multiple hyperintense lesions throughout both lobes of the liver Patients with large or multiple hemangioendotheliomas are more likely to present with hydrops in utero or postnatal high-output heart failure than patients with small, solitary tumors 131 Mesenchymal Hamartoma > Table of Contents > Section - Abdominal Wall and Gastrointestinal Tract > Hepatobiliary Abnormalities > Mesenchymal Hamartoma Mesenchymal Hamartoma Paula J Woodward, MD key Facts Terminology 781 Diagnostic Imaging Obstetrics, 2nd Edition Benign liver tumor composed of large, fluid-filled cysts surrounded by loose mesenchymal tissue containing small bile ducts Imaging Predominately cystic or mixed cystic/solid mass Multiple septations give “Swiss cheese” appearance Polyhydramnios often develops No flow on color Doppler Hydrops is poor prognostic sign Top Differential Diagnoses Mesenteric cyst (lymphangioma) Usually in peritoneal cavity or retroperitoneum but may involve liver capsule or hepatic parenchyma Hemangioendothelioma Increased flow on color Doppler Clinical Issues May show rapid growth Prognosis is related to size and compression of surrounding organs Prenatal cyst drainage considered for large lesions Surgery is curative but not always possible if mass is extensive Those diagnosed in perinatal period have more guarded prognosis than those diagnosed later in childhood Diagnostic Checklist Consider mesenchymal hamartoma for any cystic abdominal mass that is within or abuts liver 20% are exophytic in pediatric series Follow any simple-appearing liver cyst carefully as mesenchymal hamartomas may show rapid growth (Left) Axial ultrasound shows a mixed cystic/solid exophytic liver mass No flow was seen within the cystic spaces with color Doppler The differential consideration was either a mesenchymal hamartoma or a lymphangioma that involved the liver capsule (Right) The resected gross specimen shows the typical large cystic spaces in a background of disorganized mesenchymal tissue, typical features of a mesenchymal hamartoma 782 Diagnostic Imaging Obstetrics, 2nd Edition (Left) Axial ultrasound of a newborn who had a cystic abdominal mass noted on a 3rd trimester ultrasound It is subcapsular and involves a large portion of the liver There are multiple septations throughout the mass (Right) Intraoperative photograph in the same case shows the mass bulging under the capsule Mesenchymal hamartomas are benign and surgery is curative but may not be possible if the tumor is extensive Fetal cases often show rapid growth and have a more guarded prognosis than those diagnosed later in childhood P.7:83 TERMINOLOGY Definitions Benign liver tumor composed of large, fluid-filled cysts surrounded by loose mesenchymal tissue IMAGING General Features Best diagnostic clue Multiloculated, cystic liver mass Location (based on pediatric series) Right lobe: 65%; left lobe: 20%; both: 10% Pedunculated up to 20% Ultrasonographic Findings Grayscale ultrasound Predominately cystic or mixed cystic/solid mass Multiple septations give “Swiss cheese” appearance Septations may be either thick or thin Cysts may be anechoic or filled with echogenic material Polyhydramnios often develops Hydrops is a poor prognostic sign Color Doppler No flow on color Doppler Helps to distinguish from hemangioendothelioma MR Findings T2WI Cysts: Hyperintense Stroma: Hypointense DIFFERENTIAL DIAGNOSIS Mesenteric Cyst (Lymphangioma) Unilocular or multilocular cystic abdominal mass May have a similar appearance 783 Diagnostic Imaging Obstetrics, 2nd Edition Usually in peritoneal cavity or retroperitoneum but may involve liver capsule or parenchyma Hemangioendothelioma Variable sonographic appearance with overlap in imaging findings on grayscale ultrasound Hypoechoic, hyperechoic, or mixed echogenicity Sonolucencies may be seen within mass Increased flow on color Doppler “Cysts” will show internal flow Flow void described on fetal MR Hepatoblastoma Solid, echogenic masses Pseudocapsule around lesion creates well-defined borders “Spoke-wheel” described with alternating hypo- and hyperechoic areas Moderate vascularity by color Doppler PATHOLOGY General Features Associated abnormalities Has been reported with Beckwith-Wiedemann syndrome Placental mesenchymal stem villous hyperplasia May see multiple placental cysts Gross Pathologic & Surgical Features Nonencapsulated mass with multiple cysts filled with clear or mucoid material Microscopic Features Variable amounts of myxomatous mesenchyme and malformed bile ducts CLINICAL ISSUES Presentation Most common signs/symptoms Usually presents in 3rd trimester with cystic abdominal mass Has been reported in 2nd trimester as small liver cyst that rapidly grew Other signs/symptoms Preeclampsia Preterm labor Demographics Rare, but comprised 23% of 194 hepatic tumors diagnosed in perinatal period Natural History & Prognosis May show rapid growth Prognosis is related to size and compression of surrounding organs Those diagnosed in perinatal period have more guarded prognosis than those diagnosed later in childhood May have in utero demise 79% survival rate for liveborns who have surgical resection Treatment Prenatal cyst drainage considered for large lesions May need cesarean section if abdominal circumference is enlarged Surgery is curative but not always possible if mass is extensive DIAGNOSTIC CHECKLIST Consider Mesenchymal hamartoma for any cystic abdominal mass that is within or abuts liver Remember they may be exophytic Image Interpretation Pearls Follow any simple-appearing liver cyst carefully as mesenchymal hamartomas may show rapid growth SELECTED REFERENCES Cornette J et al: Mesenchymal hamartoma of the liver: a benign tumor with deceptive prognosis in the perinatal period Case report and review of the literature Fetal Diagn Ther 25(2):196-202, 2009 784 Diagnostic Imaging Obstetrics, 2nd Edition Siddiqui MA et al: Hepatic mesenchymal hamartoma: a short review Arch Pathol Lab Med 130(10):1567-9, 2006 Laberge JM et al: Large hepatic mesenchymal hamartoma leading to mid-trimester fetal demise Fetal Diagn Ther 20(2):141-5, 2005 132 Malignant Liver Tumors > Table of Contents > Section - Abdominal Wall and Gastrointestinal Tract > Hepatobiliary Abnormalities > Malignant Liver Tumors Malignant Liver Tumors Paula J Woodward, MD Key Facts Imaging Hepatoblastoma Most common primary malignancy Pseudocapsule around lesion creates well-defined borders Fibrous septae create “spoke-wheel” appearance with alternating hypo- and hyperechoic areas Moderate vascularity by color Doppler 50% have elevated maternal serum α-fetoprotein Very poor prognosis if diagnosed in utero Metastatic neuroblastoma Most common primary fetal tumor to metastasize to liver 25% of neuroblastoma cases have liver metastases May be diffusely infiltrating or discrete masses (infiltrating liver metastases may be missed) Poor prognosis when metastatic to liver except for stage 4S (unique grouping of metastases limited to skin, liver, and < 10% of bone marrow) Leukemia Hepatosplenomegaly most common finding Hydrops common 15-20x increased risk in trisomy 21 Transient myeloproliferative disorder may spontaneously resolve Congenital leukemia may rapidly progress with much poorer prognosis than those presenting later in childhood Clinical Issues ˜ 5% of fetal tumors occur in liver and most are benign (hemangioendothelioma, mesenchymal hamartoma) Malignant fetal liver tumors are rare (Left) Axial ultrasound of a hepatoblastoma shows a large, well-defined, solid liver mass A “spokewheel” appearance is used to describe the pattern of alternating echogenicities within the mass (Right) 785 Diagnostic Imaging Obstetrics, 2nd Edition Autopsy photograph of the liver in the same case shows the welldefined mass with prominent fibrous bands extending to the pseudocapsule, correlating with the ultrasound appearance (Left) Axial CECT in a neonate shows a large heterogeneous mass involving both the right and left lobes of the liver This mass expands the liver capsule and deforms the anterior abdominal wall (Right) Axial T2WI MR in the same patient shows a predominately hyperintense mass replacing most of the normal liver parenchyma Hepatoblastoma has a worse prognosis in fetuses and neonates than in older children Metastases occur earlier and are often systemic P.7:85 TERMINOLOGY Definitions most common malignant fetal liver tumors Hepatoblastoma Malignant embryonic hepatic tumor composed of epithelial cells and occasionally a mixture of epithelial and mesenchymal cells Most common primary malignancy Metastases Typically neuroblastoma All other metastases exceedingly rare Leukemic infiltration Transient myeloproliferative disorder (premalignant condition) Acute megakaryoblastic leukemia Acute myelocytic leukemia Acute lymphocytic leukemia IMAGING General Features Hepatoblastoma Solid, echogenic mass Pseudocapsule around lesion creates well-defined borders Tends to displace rather than invade adjacent structures “Spoke-wheel” appearance described with alternating hypo- and hyperechoic areas Appearance created by fibrous septae Moderate vascularity by color Doppler Calcifications occasionally seen More commonly seen in postnatal cases Can have spontaneous hemorrhage Will appear more heterogeneous in echogenicity 786 Diagnostic Imaging Obstetrics, 2nd Edition If very large, organ of origin may be difficult to determine Hydrops and polyhydramnios may be seen Metastatic neuroblastoma Most common primary fetal tumor to metastasize to liver 25% of neuroblastoma cases have liver metastases Look for primary tumor in suprarenal fossa Solid primary tumors are more likely to metastasize than cystic ones Liver is most common site of metastases, but they may be seen anywhere including placenta Liver metastases may be diffusely infiltrating or form discrete lesions Diffusely infiltrating liver metastases may be missed, especially with ultrasound Consider MR for further evaluation Leukemia Hepatosplenomegaly most common finding Hydrops commonly seen May develop from several potential causes Fetal anemia Leukemic infiltration of myocardium Visceral fibrosis with increased vascular resistance Imaging Recommendations Protocol advice Confirm mass is within liver Large renal, adrenal, and retroperitoneal masses may be mistaken for liver mass Careful Doppler analysis Significant vascularity with arteriovenous shunting favors hemangioendothelioma, a benign tumor Some overlap with hepatoblastoma, which has moderate vascularity Follow-up scans Monitor size of tumor Look for development of hydrops Early delivery may be considered if mass is rapidly growing &/or signs of impending cardiovascular compromise DIFFERENTIAL DIAGNOSIS Benign Liver Tumors Far more common than malignant liver tumors Infantile hemangioendothelioma Variable sonographic appearance Hypoechoic, hyperechoic, or mixed echogenicity Usually hypervascular Increased flow on color Doppler Flow void described on fetal MR Hydrops may develop from Arteriovenous shunting Kasabach-Merritt sequence: Hemolytic anemia, thrombocytopenia and consumptive coagulopathy Mesenchymal hamartoma Predominately cystic or mixed cystic/solid mass Does not have increased vascularity May develop hydrops Secondary to rapid fluid shifts within expanding cysts Conditions Causing Hepatomegaly Large number of causes Nonimmune hydrops Multitude of causes, including cardiac anomalies, fetal masses, chromosomal anomalies, and placental chorioangiomas 787 Diagnostic Imaging Obstetrics, 2nd Edition Immune hydrops Rhesus (Rh) alloimmunization Other alloimmune syndromes (Kell, Duffy, C, c, E, and others) Splenomegaly may be prominent feature Infection Cytomegalovirus Toxoplasmosis Parvovirus B19 Gaucher disease Perinatal-lethal subtype Hepatosplenomegaly, hydrops, hypokinesia/arthrogryposis, hydrops, ichthyosis, facial dysmorphism Prenatal testing available Beckwith-Wiedemann syndrome Macrosomia, organomegaly, omphalocele Predisposition to embryonal tumors P.7:86 PATHOLOGY General Features Genetics Hepatoblastoma May be familial Short arm chromosome 11 Similar to rhabdomyosarcoma and Wilms tumor Leukemia 15-20x increased risk of leukemia in trisomy 21 Microscopic Features Hepatoblastoma Malignant tumor classified histologically as epithelial or mixed (epithelial + mesenchymal) Leukemia Elevated peripheral leukocyte counts with circulating blasts CLINICAL ISSUES Presentation Most common signs/symptoms Large right upper quadrant mass Hepatomegaly Hydrops Other signs/symptoms 50% of fetuses with hepatoblastoma have elevated maternal serum α-fetoprotein Mirror syndrome described in both metastatic neuroblastoma and hepatoblastoma if fetus hydropic Postnatal Palpable abdominal mass Feeding difficulties Demographics Epidemiology ˜ 5% of fetal tumors occur in liver and most are benign (hemangioendothelioma, mesenchymal hamartoma) In series of 194 perinatal primary liver tumors 16.5% were hepatoblastoma Natural History & Prognosis Hepatoblastoma Very poor prognosis if diagnosed in utero 788 Diagnostic Imaging Obstetrics, 2nd Edition Widespread systemic metastases often present in patients presenting in perinatal period Those able to undergo surgery have a 25% survival rate Metastatic neuroblastoma distinct groups Stage 4: Distant metastases including liver Poor prognosis Stage 4S: Unique grouping of metastases with excellent prognosis Metastases limited to skin, liver, and < 10% of bone marrow (not bone) Leukemia Variable spectrum of severity Transient myeloproliferative disorder May spontaneously resolve Strong association with trisomy 21 Congenital leukemia may rapidly progress and be fatal Much poorer prognosis than those presenting later in childhood Treatment If diffuse hepatosplenomegaly, consider cordocentesis Diagnosis of leukemia is based on white blood cell analysis Karyotype of trisomy 21 Pediatric surgery consult prior to delivery to discuss resectability and treatment options Delivery at tertiary care facility Consider cesarean section Intrapartum tumor rupture has been reported DIAGNOSTIC CHECKLIST Image Interpretation Pearls Hepatoblastomas are well-defined, solid masses, which may exhibit a “spoke-wheel” pattern of echogenicity Metastatic neuroblastoma may cause either focal liver mass or diffuse infiltration Look for suprarenal primary tumor Consider leukemia in setting of diffuse hepatosplenomegaly, especially if fetus has Down syndrome SELECTED REFERENCES Fouché C et al: [Fetal hepatosplenomegaly in the third trimester: A sign of leukemia in fetuses with Down syndrome.] J Gynecol Obstet Biol Reprod (Paris) 39(8):667-71, 2010 Makin E et al: Fetal and neonatal liver tumours Early Hum Dev 86(10):637-42, 2010 Miric Tesanic D et al: Metastatic fetal neuroblastoma with non immune fetal hydrops Ultraschall Med 31(5):520-2, 2010 Desai G et al: Prenatal detection of an extra-adrenal neuroblastoma with hepatic metastases J Ultrasound Med 28(8):1085-90, 2009 Allen AT et al: Mirror syndrome resulting from metastatic congenital neuroblastoma Int J Gynecol Pathol 26(3):310-2, 2007 Isaacs H Jr: Fetal and neonatal hepatic tumors J Pediatr Surg 42(11):1797-803, 2007 Izraeli S: Perspective: chromosomal aneuploidy in leukemia lessons from down syndrome Hematol Oncol 24(1):3-6, 2006 Jamieson DH: Focal hepatic lesions in neonates Pediatr Radiol 36(5):468, 2006 Aviram R et al: Prenatal imaging of fetal hepatoblastoma J Matern Fetal Neonatal Med 17(2):157-9, 2005 10 Woodward PJ et al: From the archives of the AFIP: a comprehensive review of fetal tumors with pathologic correlation Radiographics 25(1):215-42, 2005 11 Bayoumy M et al: Prenatal presentation supports the in utero development of congenital leukemia: a case report J Pediatr Hematol Oncol 25(2):148-52, 2003 12 Isaacs H Jr: Fetal and neonatal leukemia J Pediatr Hematol Oncol 25(5):348-61, 2003 13 Robertson M et al: Prenatal diagnosis of congenital leukemia in a fetus at 25 weeks’ gestation with Down syndrome: case report and review of the literature Ultrasound Obstet Gynecol 21(5):486-9, 2003 789 Diagnostic Imaging Obstetrics, 2nd Edition 14 Shih JC et al: Congenital hepatoblastoma Ultrasound Obstet Gynecol 16(1):103, 2000 P.7:87 Image Gallery (Left) Transverse US of the abdomen in a fetus with metastatic neuroblastoma shows a large, solid, suprarenal mass The liver is heterogeneous with the suggestion of a few discrete nodules Ascites is also present (Right) Autopsy specimen from the same case shows the liver is riddled with metastases Small or infiltrating hepatic metastases can be difficult to discern on ultrasound and fetal MR is recommended for staging (Left) Axial oblique ultrasound in a neonate shows a large echogenic lesion adjacent to the liver in the right suprarenal fossa The liver has a heterogeneous appearance with focal areas of increased echogenicity This patient was confirmed to have stage 4S neuroblastoma (Right) Axial T2WI MR in the same patient shows innumerable hyperintense lesions throughout both lobes of the liver The large, solid, primary tumor is in the right suprarenal fossa 790 ... 12 45 213 Trisomy 21 12 51 Diagnostic Imaging Obstetrics, 2nd Edition 214 Trisomy 18 12 61 215 Trisomy 13 12 71 216 Turner Syndrome 12 81. .. 11 19 18 9 Succenturiate Lobe 11 26 19 0 Circumvallate Placenta 11 29 19 1 Marginal Cord Insertion 11 33 19 2 Velamentous Cord Insertion 11 36 19 3... 10 95 18 4 Placental Abruption 10 95 18 5 Placenta Previa 11 02 18 6 Vasa Previa 11 09 18 7 Placenta Accreta Spectrum 11 12 18 8 Placental