Spot Diagnosis
While waiting at the bus stop, train station, or wherever you may be, take a few minutes to test yourself with some first-trimester clinical cases that presented to Monash Ultrasound over the last few weeks ! Look forward to you joining us for the first-trimester Symposium!
Instructions: Review the video clip/s and identify the abnormal features which are displayed. Some video clips simply display borderline changes or soft markers and others features diagnostic of both common or rare pathologies. In an effort to keep you on your toes, some normal video clips have also been included!
What does this clip show and what is the most likely associated finding?
a) Mild Left cardiac Axis deviation. Aorta sweeps to the right. '?' configuration to the Aorta. A narrowed pulmonary artery with forward flow. Duct inserts proximally to Aorta i.e 'Y' Configuration.
b) Diagnosis: Tetralogy of Fallot
What are the key findings and what is the most likely cause?
a) Sonographic findings: Hydrops fetalis. Small left cardiac ventricle. Narrow aorta possibly evolving coarctation
b) Diagnosis: Turners Syndrome. Noonan's Syndrome
a) What are the Key Findings. b) What is the most likely diagnosis?
a) Sonographic findings: Dilated cerebral 4th ventricle. Two vessels on the 3 vessel tracheal view + reverse curvature of the right ventricular outflow tract
b) Diagnosis: Transposition of the great arteries with suspected genetic origins as indicated by the dilated 4th ventricle or Posterior fossa abnormality ( BPC or DWM) with an associated congenital heart defect
a) What are the Key Findings. b) What is the most likely diagnosis?
a) Sonographic findings: Abnormal Profile. Reduced Fronto Maxillary Facial Angle (FMFA). Absent Cranial Bone. Exencephaly. Thin Nuchal Translucency
b) Diagnosis: Acrania
a) What are the Key Findings. b) What is the most likely diagnosis?
a) Sonographic findings: Posterior-Superior-Parieto-Occipital Cranial cyst. Posterior displacement of the Aqueduct of Sylvius. Abnormal configuration of the brainstem
b) Differential diagnosis: 1. Cephalocele 2.Atretic Cephalocele 3. Epidermoid cyst
a) What are the Key Findings. b) What is the most likely diagnosis?
a) Sonographic findings: Increased Nuchal Translucency at 10w6d and Postaxial hand Polydactyly.
b) Diagnosis: Trisomy 13
a) What are the Key Findings. b) What is the most likely diagnosis?
a) Sonographic findings: Unilateral Renal Agenesis. Double Renal artery in the remaining kidney.
b) Diagnosis: Likely to be an isolated finding
a) What are the Key Findings. b) What is the most likely diagnosis?
a) Sonographic findings: 13 Week pregnancy with a 3-4 cms inhomogenous unilocular solid left ovarian cyst
b) Diagnosis: Decidualised Endometrioma
a) What are the Key Findings. b) What is the most likely diagnosis?
a) Sonographic findings: Megacystis. Omphalocele. Tachycardia. Microphthalmia. Hypertelorism. Proboscis. Dilated 4th cerebral ventricle.
b) Diagnosis: Trisomy 13
a) What are the Key Findings. b) What is the most likely diagnosis?
a) Sonographic findings: Physiological omphalocele. Absent Cranium. Exencephaly.
b) Diagnosis: Acrania
a) What are the Key Findings. b) What is the most likely diagnosis?
a) Sonographic findings: Disproportion between head and torso. AC well below 1st centile. Bilateral cleft lip and palate. Prominent cerebral lateral ventricles. Placental thickness normal and 4th ventricle not dilated!
b) Diagnosis: Aneuploidy suspected. Possible Digynic Triploidy.
a) What are the Key Findings. b) What is the most likely diagnosis?
a) Sonographic findings: Delayed embryonic growth (4 days behind IVF dates). Single anterior monoventricle. Choroids are shared across the midline. Subcutaneous oedema. Increased NT (2.8mm) Bilateral pleural effusions. Pericardial effusion. Normal Digit count
b) Diagnosis: Alobar holoprosencephaly. Aneuploidy Suspected.
a) What are the Key Findings. b) What is the most likely diagnosis?
a) Sonographic findings: Normal Cardiac Axis. Aortic Override. Aortic Dextroposition. Dilated Aorta. Main pulmonary artery and branch pulmonary arteries not seen
b) Diagnosis: Tetralogy of Fallot ( with pulmonary atresia), Common arterial trunk (CAT), or less likely Double outlet right ventricle (DORV)
a) What are the Key Findings. b) What is the most likely diagnosis?
a) Sonographic findings: Increased Nuchal translucency. Absent Nasal bone. Normal heart, No TR and normal Subclavian arteries. Ductus venous reverse A-Wave CVS with a high-frequency probe.
b) Diagnosis: Trisomy 21
a) What are the Key Findings. b) What is the most likely diagnosis?
a) Sonographic findings: Increased NT at 10w6d. Dilated Right Atrium. Tachycardia. Suspected reverse A-wave. Bilateral cleft Lip.
b) Diagnosis: Trisomy 13
a) What are the Key Findings. b) What is the most likely diagnosis?
a) Sonographic findings: Unilateral post-axial polydactyly. Thin nuchal translucency. Physiological omphalocele. Normal 4-chamber and outflow tracts ( note atria similar in size to ventricles !)
b) Diagnosis: Unilateral post-axial polydactyly. No supporting markers of Trisomy 13
a) What are the Key Findings. b) What is the most likely diagnosis?
a) Sonographic findings: 13 weeks pregnant. 4cm Fundal Pedunculated Fibroid. 2cm Right Lateral Pedunculated 3cm Multiloculated solid avascular right ovarian mass. Internal dot-dash echos with some shadowing
b) Diagnosis: 3cm Right ovarian dermoid adjacent to 2cm right Pedunculated fibroid
a) What are the Key Findings. b) What is the most likely diagnosis?
a) Sonographic findings: Extra digit adjacent to 5th finger on both hands. The extra digit on the right hand contains two bony phalanges. Extra digit on the left hand contains one phalanx. The extra digit is freely mobile on both sides.No supporting markers of aneuploidy (T13) or genetic syndromes. Thin NT. Normal heart.
b) Diagnosis: Isolated bilateral post-axial polydactyly.
a) What are the Key Findings. b) What is the most likely diagnosis?
a) Sonographic findings: Dilated Ascending Aorta on 2D, STC A-plane and color STIC render. Narrowed main pulmonary artery. "Y" configuration of the arterial duct. Normal Cardiac Axis. LVOT appears normal for this early stage with anterior wall of aorta continuous with the Interventricular septum
b) Diagnosis: Diagnosis uncertain. Suspicion of perimembranous VSD / evolving extraposition of the Aorta
a) What are the Key Findings. b) What is the most likely diagnosis?
a) Sonographic findings: Normal Liquor Volume. Thin Nuchal translucency. Fetus hyperflexed. Single Umbilical Artery. Bladder not visualized. Kidneys present but atypical parenchymal echotexture
b) Diagnosis: Bladder Exstrophy suspected. Cystic Renal disease is less likely.
a) What are the Key Findings. b) What is the most likely diagnosis?
a) Sonographic findings: Unilateral post-axial polydactyly. Thin nuchal translucency.
b) Diagnosis: Unilateral post-axial polydactyly. No supporting markers of Trisomy 13
a) What are the Key Findings. b) What is the most likely diagnosis?
a) Sonographic findings: Aortic Override. Right Aortic Arch
b) Differential Diagnosis: Tetralogy of Fallot. Common Arterial trunk. Double Outlet Right Ventricle
a) What are the Key Findings. b) What is the most likely diagnosis?
a) Sonographic findings: Single Umbilical Artery. Normal right subclavian artery. Normal 4-chamber view of heart and outflow tracts. Normal Pulmonary veins (slowflow)
b) Diagnosis: Single umbilical artery. Normal Cardiac structure
a) What are the Key Findings. b) What is the most likely diagnosis?
a) Sonographic findings: Single Umbilical Artery. Ductus venosus reverse 'A'-wave. IUGR-6 days behind IVF transfer Dates. Loss of 'offset' AV valves- TV examination declined
b) Diagnosis: Suspicion of Aneuploidy. Results of CVS awaited