DIFFERENTIAL DIAGNOSES OF ABNORMAL IN UTERO SONOGRAPHIC FINDINGS




ABDOMEN



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Note: Items in bold represent most common diagnosis.



ABDOMINAL CYST OR FLUID COLLECTION



Dilated bladder



Dilated bowel



Hydroureter



Ovarian cyst (in females)



Renal cystic lesions, particularly ureteropelvic junction with anterior pelvis or pelvic dysplastic kidney



Adrenal cyst or hemorrhage



Choledochal cyst



Duodenal atresia, anal atresia, gut atresia



Enteric duplication cyst



Hepatic arteriovenous malformation



Hepatic cyst



Hydrometrocolpos



Liver cyst



Lymphangioma



Meckel’s diverticulum



Meconium pseudocyst



Mesenteric cyst



Rectal dilation



Sacrococcygeal (cystic) teratoma



Splenic cyst



Umbilical vein varix



Urachal cyst



ABDOMINAL WALL PROCESS



Omphalocele



Gastroschisis



Physiologic gut herniation (8 to 12 weeks’ gestation)



Limb–body wall complex



Umbilical hernia



Bladder exstrophy



Cloacal exstrophy (OEIS [omphalocele, exstrophy of the bladder, imperforate anus, and spinal defects] complex)



Pentalogy of Cantrell



Vesicoallantoic cyst



Urachal cyst



STOMACH NONVISUALIZATION



Diaphragmatic hernia (left sided)



Normal variant



Tracheoesophageal atresia or fistula/esophageal atresia



Microgastria



Central nervous system problems that prevent swallowing



Hiatal hernia



Facial cleft



Micrognathia



ASCITES (ISOLATED)



Renal obstruction



Trisomy 21



Meconium peritonitis



Fetal infections (especially parvovirus and cytomegalovirus)



DILATED STOMACH AND DUODENUM



Duodenal atresia



Normal variant



Annular pancreas



Antral web



Diabetic embryopathy



Gut malrotation



ECHOGENIC AREA IN ABDOMEN



ECHOGENIC MASS


Adrenal hemorrhage



Dysplastic second collecting system



Extralobar sequestration



Hepatic tumor



Neuroblastoma



Ovarian cyst with hemorrhage



Sacrococcygeal teratoma



Fetus in fetu



ECHOGENIC BOWEL


Cystic fibrosis



Intragut or intra-abdominal bleed



Meconium in the third trimester



Normal variant at term



Trisomy 21



Intrauterine growth restriction



Fetal infections (cytomegalovirus)



Meconium peritonitis



CALCIFICATION


Normal variant



Fetal infections (cytomegalovirus infection, toxoplasmosis)



Gallstones



Idiopathic arterial calcification



Teratoma (intrapelvic or in adrenal region)



Intraluminal calcification—imperforate anus/anal atresia



LARGE BOWEL DILATION



Anorectal malformation or atresia



Meconium plug syndrome



Hirschprung disease



OMPHALOCELE



Chromosome anomaly—trisomy 13, 18, or 21, triploidy



Isolated



Umbilical hernia



Amniotic band syndrome



Beckwith-Wiedemann syndrome



Carpenter syndrome



CHARGE association



Meckel-Gruber syndrome



Pentalogy of Cantrell



Short-rib polydactyly syndromes, various types



SMALL BOWEL DILATION



Jejunoileal atresia



Volvulus



Meconium ileus



Meconium peritonitis



Enteric duplications



Gastroschisis



Massive bilateral ureteropelvic junction obstruction



Cystic fibrosis




GENITOURINARY



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ABSENT BLADDER



Following voiding



Renal agenesis (bilateral)



Technical—obese patient and prone fetus



Bilateral renal dysplasia



Bladder exstrophy



Caudal regression



Cloacal exstrophy



Infantile polycystic kidney disease



Severe intrauterine growth restriction



Sirenomelia



Meckel-Gruber syndrome



CYSTS IN KIDNEYS



Multicystic dysplastic kidney



Severe hydronephrosis in single or double systems



Meckel-Gruber syndrome



Chromosomal—trisomy 13



Adult polycystic kidney



Ellis–van Creveld syndrome



Fryns syndrome



Infantile polycystic kidney disease



Jeune asphyxiating thoracic dystrophy



Joubert syndrome



Marden-Walker syndrome



McKusik-Kaufman syndrome



Orofacial-digital syndrome, various types (microcysts)



Roberts syndrome



Short-rib polydactyly syndromes, various types



Smith-Lemli-Opitz syndrome



Tuberous sclerosis



Zellweger syndrome



ENLARGED KIDNEYS OR KIDNEY



Autosomal recessive (infantile polycystic) kidney disease



Autosomal dominant (adult) polycystic kidney disease



Compensatory hypertrophy



Crossed renal ectopia



Double collecting system



Hydronephrosis



Multicystic dysplastic kidney disease



Beckwith-Wiedemann syndrome



Meckel-Gruber syndrome



Trisomy 13



Mesoblastic nephroma



GENITAL ABNORMALITIES



Smith-Lemli-Opitz syndrome



Campomelic dysplasia



Cloacal exstrophy



Chromosomal abnormalities, various



CHARGE association



Cornelia de Lange syndrome



Ectrodactyly-ectodermal-dysplasia-clefting (EEC) syndrome



Fanconi syndrome



Fraser syndrome



Noonan syndrome



Pallister-Killian syndrome



Pena-Shokeir syndrome



Short-rib polydactyly syndrome



Fryns syndrome



MURCS (müllerian duct aplasia, renal aplasia, cervicothoracic somite dysplasia)



HYDRONEPHROSIS ASSOCIATIONS



Ectopic ureter



Posterior urethral valves



Reflux



Ureterocele and ectopic ureter



Ureteropelvic junction obstruction



Ureterovesical junction obstruction



Bladder exstrophy



Cloacal exstrophy



Ectrodactyly-ectodermal-dysplasia-clefting (EEC) syndrome



Hemifacial microsomia (Goldenhar syndrome)



McKusik-Kaufman syndrome



Megacystis megaureter



Megacystis microcolon



Sacrococcygeal teratoma



POSSIBLE SUPRARENAL MASS



Adrenal hematoma



Multicystic duplicated collecting system



Extrapulmonary sequestration (left side)



Neuroblastoma



Hepatic mass



Liver cyst



RENAL AGENESIS



Isolated



VACTERL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, limb abnormalities) association



Caudal regression/sirenomelia



Diabetic embryopathy



Fraser syndrome (cryptophthalmos)



Hemifacial microsomia (Goldenhar syndrome)



Limb–body wall complex



MURCS (müllerian duct aplasia, renal aplasia, cervicothoracic somite dysplasia)



Short rib polydactyly



Townes-Brock syndrome




CARDIAC



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ENLARGED HEART



Cardiomyopathy



Hydrops



Anemia



Small chest (normal size heart appears large—dwarfing syndromes)



Bilateral atrioventricular valve regurgitation



Pronounced bradycardia



Severe mitral valve regurgitation



Pericardial effusion



LEFT HEART ENLARGEMENT



Aortic stenosis



Cardiomyopathy



RIGHT HEART ENLARGEMENT



Coarctation of the aorta (particularly relative to left heart)



Hypoplastic left heart syndrome (particularly if tricuspid regurgitation)



Dysplastic pulmonary valve syndromes (with severe pulmonary regurgitation)



Premature closure of the ductus (e.g., nonsteroidal anti-inflammatory drugs such as indomethacin and aspirin)



Tetralogy of Fallot



RIGHT ATRIAL ENLARGEMENT



Ebstein anomaly



Tricuspid regurgitation



Tricuspid stenosis



Total anomalous pulmonary venous return (left atrial hypoplasia so right atrium appears large)



BRIGHT ECHOES IN THE HEART



Chordae tendineae (normal variant)



Papillary muscle (normal variant)



Rhabdomyoma (tuberous sclerosis)



Dystrophic calcification syndrome



Angioma



Endocardial fibroelastosis (linear echogenic border to left ventricle)



Critical aortic stenosis and aortic atresia



Myocarditis (congenital infections—toxoplasmosis, cytomegalovirus)



CARDIAC ABNORMALITY ASSOCIATIONS



Chromosome abnormalities



Noonan syndrome



VACTERL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, limb abnormalities) association



Diabetic embryopathy



Deletion 22q syndrome (DiGeorge/velocardiofacial syndrome)



Adams-Oliver syndrome



Campomelic dysplasia



Cornelia de Lange syndrome



Cri-du-chat syndrome



Ellis–van Creveld syndrome (chondroectodermal dysplasia)



Fanconi syndrome



Fetal alcohol syndrome



Fetal infections



Hemifacial microsoma (Goldenhar syndrome)



Holt-Oram syndrome



Heterotaxy syndrome—situs inversus



Hydrolethalis



McKusik-Kaufman syndrome



Maternal phenylketonuria



Meckel-Gruber syndrome



Neu-Laxova syndrome



Retinoic acid embryopathy



Rubenstein-Taybi syndrome



Roberts syndrome



Short-rib polydactyly syndromes



Smith-Lemli-Opitz syndrome



Thrombocytopenia–absent radius syndrome (TAR)



Tuberous sclerosis (rhabdomyoma)



Williams syndrome



Zellweger syndrome



CARDIAC MASS



Rhabdomyoma (tuberous sclerosis)



Hypertrophic cardiomyopathy



Pericardiac masses (e.g., thymus, teratoma)



Basal cell nevus syndrome



PERICARDIAL EFFUSION



Infections





  • Cytomegalovirus



  • Parvovirus



  • Myocarditis




Valvular aortic stenosis (especially if mitral regurgitation is present)



Cardiomyopathy



Pronounced bradycardia



Tachycardia



Early sign of anemia—Rh, parvovirus, and α-thalassemia



Early sign of hydrops



Pericardial cyst



Normal echopenic rim (pseudopericardial effusion)



Cardiac tumor



Chromosomal—45X (Turner syndrome), trisomy 21



Confusion with pleural effusion



REVERSED ATRIAL SHUNT (LEFT ATRIUM TO RIGHT ATRIUM)



Critical mitral stenosis, mitral atresia



Severe left ventricular dysfunction



Severe left ventricular hypoplasia



Critical aortic stenosis/atresia



Hypoplastic left heart syndrome



REVERSED DUCTAL FLOW (AORTA-PULMONARY ARTERY)



Tricuspid atresia



Tetralogy of Fallot with severe pulmonary stenosis or atresia



Critical pulmonary stenosis or atresia



RETROGRADE FLOW IN THE AORTIC ARCH



Critical mitral stenosis, mitral atresia



Severe left ventricular dysfunction



Severe left ventricular hypoplasia



Critical aortic stenosis/atresia



Hypoplastic left heart syndrome



Interrupted aortic arch



ABSENT DUCTUS ARTERIOSUS



Tetralogy of Fallot/pulmonary atresia



Tetralogy of Fallot with dysplastic pulmonary valve syndrome



ABSENT DUCTUS VENOSUS



Underdevelopment or agenesis of the fetal portal system





  • Intrahepatic drainage—good prognosis



  • Extrahepatic drainage—potential for hydrops




BRADYCARDIA



Sinus node dysfunction



Atrioventricular node block (secondary or tertiary) (complete heart block)



Blocked premature atrial contractions



Structural heart abnormality



Maternal autoimmune disease



TACHYCARDIA



Sinus tachycardia



Supraventricular tachycardia



Atrial flutter



Atrial fibrillation with rapid ventricular response



Ventricular tachycardia



Sepsis



Anemia



Thyrotoxicosis




CHEST



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FLUID COLLECTION IN CHEST



Pleural effusion



Bronchogenic cyst



Congenital pulmonary adenomatoid malformation



Diaphragmatic hernia (stomach)



Bronchial atresia



Cystic hygroma



Duplication cyst



Enlarged cardiac chamber



Hiatal hernia (stomach)



Pericardial cyst



Mediastinal teratoma



Neuroenteric cyst



SOLID MASS IN CHEST



Congenital pulmonary adenomatoid malformation



Pulmonary sequestration



Cardiac tumor—rhabdomyoma



Chest wall hematoma



Mediastinal teratoma



Neuroblastoma metastases



Normal thymus



DIAPHRAGMATIC HERNIA ASSOCIATIONS



Fryns syndrome



Trisomy 18 and other chromosomal abnormalities



Pallister-Killian (tetrasomy 12p)



Jarcho-Levin syndrome



Deletion 4p (Wolf-Hirschhorn syndrome)



PLEURAL EFFUSION



Chylothorax



Early sign of hydrops



Trisomy 21



Hemothorax



Secondary to pulmonary sequestration, congenital pulmonary adenomatoid malformation, tracheal atresia



Lung agenesis



SMALL CHEST



Osteogenesis imperfecta type II



Thanatophoric dysplasia



Achondrogenesis, all types



Atelosteogenesis, all types



Campomelic dysplasia



Chondrodyoplasia punctata



Ellis–van Creveld syndrome (chondroectodermal dysplasia)



Fibrochondrogenesis



Hypophosphatasia



Jeune asphyxiating thoracic dystrophy



Multiple pterygium syndrome



Short-rib polydactyly syndromes, all types



Spondyloepiphyseal dysplasia congenita




CENTRAL NERVOUS SYSTEM



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AGENESIS OF THE CORPUS CALLOSUM ASSOCIATIONS



Dandy-Walker malformation, isolated



Aicardi syndrome



Acrocallosal syndrome



Apert syndrome



Chromosomal—trisomy 13



Chromosomal—trisomy 18



Encephalocele



Fetal alcohol syndrome



Fetal infections



Fryns syndrome



Hydrolethalus



Meckel-Gruber syndrome



Neu-Laxova syndrome



Smith-Lemli-Opitz syndrome



Walker-Warburg syndrome



Zellweger syndrome



BRAIN TOO EASILY VISUALIZED (UNDEROSSIFICATION OF BONE)



Osteogenesis imperfecta, type II



Achondrogenesis, some types



Acrania



Atelosteogenesis



Hypophosphatasia



Short-rib polydactyly syndrome



CEREBELLAR HYPOPLASIA



Dandy-Walker malformation



Spinal dysraphism



Chromosomal—trisomy 13



Chromosomal—trisomy 18



Cri-du-chat syndrome



Fetal infections



Joubert syndrome



Meckel-Gruber syndrome



Neu-Laxova syndrome



Smith-Lemli-Opitz syndrome



Walker-Warburg syndrome



DANDY-WALKER MALFORMATION



Cornelia de Lange syndrome

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Jan 12, 2019 | Posted by in ULTRASONOGRAPHY | Comments Off on DIFFERENTIAL DIAGNOSES OF ABNORMAL IN UTERO SONOGRAPHIC FINDINGS

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