Dr Sonal Gupta Fetal medicine

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20/08/2026

🫁 CASE OF THE DAY
Fetal Thoracic Lymphangioma

Ultrasound findings
• A large anechoic, multiloculated, multiseptated cystic mass was seen within the fetal thorax.
• The lesion was irregular in outline and non-vascular on colour Doppler.
• Significant mass effect was noted with compression of the fetal lungs and displacement of the heart towards the right, producing mediastinal shift.
• The overall appearance was suggestive of a thoracic lymphangioma.
• An important differential diagnosis was a neurenteric cyst; however, the vertebral column appeared normal.
• The fetal stomach was well visualised in abdomen.

🔍 Diagnosis
Fetal intrathoracic lymphangioma (cystic lymphatic malformation)
A lymphangioma is a congenital malformation of the lymphatic system caused by abnormal development and sequestration of lymphatic channels. Although commonly seen in the neck, isolated intrathoracic involvement is rare.

🎯 Key sonographic features
🫧 Multiloculated cystic lesion
➗ Multiple internal septations
🎨 No internal vascularity on colour Doppler
🫁 Compression/displacement of adjacent lung
❤️ Mediastinal and cardiac shift in large lesions
📈 May progressively increase in size
💧 Large lesions may occasionally be associated with pleural effusion or hydrops

Although an isolated lymphangioma may have a favourable outcome.
Genetic testing may be recommend-
🧪 Karyotype and/or chromosomal microarray
🧬 Consider further genomic testing when additional anomalies are present

📈 Prognosis
The prognosis depends mainly on:
• Size and location of the lesion
• Degree of mediastinal compression
• Presence of hydrops
• Associated structural or chromosomal abnormalities
• Progression during pregnancy
✨ A slow-growing, isolated thoracic lymphangioma without hydrops can have a relatively favourable outcome.
However, large or progressively enlarging lesions causing significant cardiopulmonary compression carry a more guarded prognosis.

🌠Think of thoracic lymphangioma when you encounter a non-vascular, multiloculated, septated cystic thoracic mass producing mediastinal shift.

15/08/2026

🫀 Case of the Day: Hypoplastic Left Heart Syndrome with Fetal Hydrops

Clinical scenario

A detailed fetal echocardiographic examination demonstrated features of severe left-sided cardiac hypoplasia, associated with fetal hydrops and abnormal fetal Doppler findings.

Key ultrasound findings
🌊 Fetal hydrops

* Generalised subcutaneous edema
* Bilateral pleural effusions
* ⁠Ascites
* Thickened nuchal fold

➡️ Findings consistent with fetal hydrops.

🫀 Four-chamber view

* Echogenic and markedly dysfunctional left ventricle with significantly reduced flow
* Normal filling of the right ventricle
* Apex predominantly formed by the right ventricle
* Thickened, echogenic left ventricular walls
* Thickened mitral valve with restricted leaflet motion

🔄 Outflow tract findings

* Pulmonary artery arising from the right ventricle and appearing dilated
* Small, non-branching aorta arising from the left ventricle
* Aortic size measuring below the 5th centile

3-vessel and 3-vessel trachea views

* Only two vessels identified on the 3-vessel view: dilated pulmonary artery and SVC
* Narrow transverse aortic arch
* Reversal of flow in the transverse aortic arch

Associated Doppler findings

* Umbilical artery: raised resistance with reduced end-diastolic flow
* MCA PI: below the 5th centile
* Cerebroplacental ratio: 0.62, indicating brain-sparing physiology
* Ductus venosus PI: elevated with A-wave reversal
* MCA PSV: 1.58 MoM, suggestive of fetal anemia

🎯 Diagnosis- Hypoplastic Left Heart Syndrome (HLHS) Complicated by:
Fetal hydrops + severe cardiac dysfunction + fetal growth restriction + abnormal venous and arterial Dopplers + suspected fetal anemia

💡 Learning pearl

HLHS is not simply a “small left ventricle.” The diagnosis is based on the entire spectrum of left-sided hypoplasia:

Small/dysfunctional LV → abnormal mitral valve → hypoplastic aortic outflow → small aortic arch → retrograde arch flow.

The presence of hydrops and ductus venosus A-wave reversal indicates severe fetal cardiovascular compromise and is associated with a particularly poor prognosis.

12/08/2026

🧠 Case of the Day- Dorsal Limited Myeloschisis with Diastematomyelia

🔍 Ultrasound Findings

* Cystic lesion involving the lower lumbar/sacral region, extending from approximately L3–L5
* A fibro-neural stalk connects the lesion to the spinal canal
* Widening of the spinal canal with bony diastasis
* Coronal imaging demonstrates a 16 × 6.7 mm bony spur extending from approximately L4–S2
* The spur divides the spinal canal, producing hemicords
* The left hemicord is displaced/tethered caudally
* Conus terminates abnormally low at approximately S4

* Cranial anatomy and posterior fossa: Normal
* Overlying skin: Intact

🧩 Key Imaging Clue

Cystic lesion + fibro-neural stalk + split spinal cord + low-lying tethered conus + intact skin

🎯 Most likely diagnosis

Dorsal Limited Myeloschisis (DLM) with Diastematomyelia

A form of closed spinal dysraphism characterized by a focal neural placode/neural stalk extending through a defect in the posterior elements, often associated with tethering and split cord malformations.

⭐ Neurological function may depend on the degree of involvement of the neural elements and may evolve with fetal growth and postnatal development.

🧠 Differential Diagnosis

1. Myelomeningocele
2. ⁠Meningocele
3. Dorsal limited myeloschisis.

Learning Pearls
📌 A low-lying conus is not the diagnosis by itself.
Look for the cause of tethering.
📌 Always examine the posterior elements in three planes.
A subtle midline defect can be missed on routine sagittal imaging.
📌 A bony spur within the spinal canal should immediately raise suspicion for diastematomyelia.
📌 Trace the neural elements.
The relationship between the cyst, neural stalk, hemicords and conus is critical.
📌 Skin-covered does not mean neurologically benign.
📌 Fetal MRI can help delineate:

* Neural placode
* Cord anatomy
* Level of tethering
* Split cord configuration
* Associated spinal abnormalities
* Additional CNS abnormalities

Recommended next step

Fetal MRI + multidisciplinary counselling

🩺 Antenatal Counseling

The prognosis is difficult to predict antenatally can be associated with neurological deficits.

10/08/2026

Case of the Day 🫀
Pulmonary Atresia with Intact Ventricular Septum (PA/IVS)

A fetal echocardiography case demonstrating complete pulmonary outflow obstruction with an intact ventricular septum and duct-dependent pulmonary circulation.

Case Findings

• Cardiac chamber disproportion — right ventricle is smaller than the left ventricle
• Mild right atrial enlargement
• Restricted tricuspid valve movement
• Tricuspid regurgitation, with peak velocity up to 120 cm/s
• Intact interventricular septum
• Normal ventriculo-arterial connections
• Completely atretic pulmonary valve with no demonstrable forward flow into the pulmonary artery
• Pulmonary artery markedly smaller than the aorta
• Altered aorta/pulmonary artery calibre ratio
• Forward flow in the ascending aorta
• Retrograde flow through the ductus arteriosus → evidence of duct-dependent pulmonary circulation
• Retrograde flow in the transverse segment of the ductal arch
• Thymo-thoracic ratio: 0.2
• Ductus venosus: reversed ‘a’ wave with increased PI of 2.25

Diagnosis

🔴 Pulmonary atresia with intact ventricular septum (PA/IVS)

What makes this case interesting?

The combination of:

➡️ Pulmonary valve atresia
➡️ Intact ventricular septum
➡️ Hypoplastic right ventricle
➡️ Restricted tricuspid valve
➡️ Retrograde ductal flow

is highly characteristic of PA/IVS.

Important fetal assessment in PA/IVS

The prognosis is determined largely by the ability of the right ventricle to support a biventricular circulation.

Assess:

1. Tricuspid valve size and morphology
2. Right ventricular size
3. Pulmonary artery dimensions
4. RV systolic function
5. Degree of tricuspid regurgitation
6. Coronary artery anatomy
7. Ventriculo-coronary arterial connections
8. Evidence of right-ventricle-dependent coronary circulation (RVDCC)
9. Ductal flow pattern
10. Pulmonary venous flow and signs of cardiac failure

Counseling Point

PA/IVS is a duct-dependent heart lesion. After birth, pulmonary blood flow depends on a patent ductus arteriosus, and the neonate generally requires immediate specialist cardiac assessment and prostaglandin therapy.

06/08/2026

Case of the Day 🩺
Duplex Collecting System with Ureterocele

Usg fundings
• Dilatation of the both upper and lower pole pelvicalyceal system
• Two separate renal pelves within the left kidney giving a duplicated collecting system appearance.⁠⁠
• Thin-walled cystic lesion within the urinary bladder consistent with a ureterocele
• Normal right kidney
• Normal amniotic fluid volume

Embryology

A duplex collecting system results from duplication of the ureteric bud.

According to the Weigert-Meyer rule:
• Upper pole ureter inserts inferomedially and is prone to obstruction with ureterocele.
• Lower pole ureter inserts superolaterally and is prone to vesicoureteral reflux.

Differential Diagnosis

• Bladder diverticulum
• Ectopic ureter without ureterocele
• Posterior urethral valves (if bilateral hydronephrosis and thick-walled bladder)
• Simple bladder cyst (rare)

Associated Anomalies

• Vesicoureteral reflux
• Megaureter
• Dysplastic upper renal moiety
• Contralateral urinary tract anomalies (less common)

Prognosis

✅ Generally favorable when unilateral with preserved renal function and normal liquor.

Prognosis depends on:
• Degree of upper pole obstruction
• Renal parenchymal preservation
• Presence of reflux
• Bilateral involvement
• Associated anomalies

Prenatal Follow-up

• Serial ultrasound every 4–6 weeks
• Monitor renal pelvic dilatation and ureteric dilatation
• Assess renal cortical thickness
• Monitor bladder appearance
• Assess amniotic fluid volume

Postnatal Evaluation

• Renal ultrasound within the first week of life
• Voiding cystourethrogram (VCUG) to evaluate vesicoureteral reflux
• Nuclear renal scan (MAG3 or DMSA) for differential renal function
• Pediatric urology consultation

Management

• Observation in mild cases
• Antibiotic prophylaxis if indicated
• Endoscopic puncture/incision of ureterocele
• Upper pole heminephrectomy if the upper moiety is non-functioning
• Ureteric reimplantation or reconstructive surgery in selected cases

03/08/2026

👩🏻‍⚕️ Case of the Day- Exomphalos (Omphalocele)

Key Ultrasound Findings

• Midline abdominal wall defect at the umbilical cord insertion.
• Herniated viscera enclosed within a thin membranous sac (amnion externally and peritoneum internally).
• Contents include bowel only (small defect)
• ⁠Cord surrounding the defect (In very small bowel-only exomphaloceles (sometimes called hernia of the umbilical cord), distinguishing the exact cord insertion can be challenging because the sac is tiny and the cord surrounds the defect)
• Careful survey for associated structural anomalies is essential

Types

• Small exomphalos: Herniated bowel only.
• Giant exomphalos: Liver-containing sac and/or defect >5 cm.

Differential Diagnosis
• Gastroschisis
• Body stalk anomaly
• Pentalogy of Cantrell

Associated Anomalies

• Cardiac defects (most common)
• Neural tube defects
• Genitourinary anomalies
• Skeletal anomalies
• Diaphragmatic hernia
• Beckwith–Wiedemann syndrome
• OEIS complex
• Limb-body wall complex (rare)

Genetic Associations

• Chromosomal abnormalities in approximately 30–50%
• Common associations:
* Trisomy 18
* Trisomy 13
* Trisomy 21
* Turner syndrome (less common)
• Increased risk when associated anomalies are present or in small bowel-only exomphalos.

✅ Genetic counseling
✅ Amniocentesis with chromosomal microarray
✅ Consider exome sequencing if multiple anomalies are present and CMA is normal
✅ Consider testing for Beckwith–Wiedemann syndrome in isolated cases

Prognosis

• Depends on associated anomalies and chromosomal abnormalities.
• Isolated exomphalos has a favorable prognosis after surgical repair.
• Giant liver-containing exomphalos may require staged surgical closure and prolonged neonatal care.
• Overall prognosis is largely determined by associated cardiac and genetic abnormalities.

30/07/2026

🫀Case of the Day- Fetal Aortopulmonary Window (AP Window)

Key Ultrasound Findings

🔹 2D Greyscale

• Three-vessel view (3VV) showed a clear “drop-out” in the aortopulmonary septum (hallmark finding).
• “T-sign” seen due to hyperechoic edges of the interrupted septum.
• Two separate, normally functioning semilunar valves were identified, differentiating AP window from truncus arteriosus.
• Mild disproportion with a relatively larger ascending aorta and early left heart volume loading may be present.

🔹 Color Doppler

• Characteristic “Red Eye Sign” – turbulent color flow seen as a bright red focus within the main pulmonary artery at the site of the defect.
• Right-to-left shunting across the defect during systole and early diastole (normal fetal physiology).
• Small ductus arteriosus or reduced ductal flow due to preferential flow across the AP window.

🔹 Spectral Doppler

• Holodiastolic flow reversal in the descending aorta suggesting systemic steal phenomenon.

Differential Diagnosis

• Truncus arteriosus
– Single arterial trunk with a single truncal valve.

• Patent ductus arteriosus aneurysm
– Communication occurs through the ductus, not between the ascending aorta and pulmonary artery.

• Large ventricular septal defect with overriding aorta
– Intact aortopulmonary septum.

• Transposition of the great arteries
– Parallel great vessels without septal defect.

Key Teaching Points

💡 Always perform a systematic sweep of the great vessels.

💡 The defect is visible only in a specific imaging plane and can be missed if the ultrasound beam is not perpendicular to the aortopulmonary septum.

💡 Three-vessel view is the most important screening plane.

💡 Identification of two separate semilunar valves is the key feature distinguishing AP window from truncus arteriosus.

💡 The “Red Eye Sign” is a useful contemporary Doppler marker that improves prenatal detection.

Counseling

Isolated AP window generally has an excellent surgical outcome after neonatal repair.

Delivery should be planned in a tertiary cardiac center

24/07/2026

Case of the Day

🧠 Prenatal Diagnosis: Ventriculomegaly with Absent Cavum Septum Pellucidum (CSP) and Nodular Periventricular Heterotopia

📋 Clinical Case

A second-trimester fetal neurosonography demonstrated absent CSP with fused frontal horns of the lateral ventricles. Mild asymmetric ventriculomegaly was noted (left 11.9 mm, right 8.8 mm). Detailed evaluation revealed bilateral nodular periventricular heterotopia lining the lateral ventricles. Corpus callosum, vermis, and posterior fossa appeared normal.

🔍 Key Ultrasound Findings

• Absent cavum septum pellucidum (CSP)
• Fusion of the frontal horns of the lateral ventricles
• Mild unilateral ventriculomegaly (11.9 mm)
• Bilateral nodular periventricular heterotopia along the ventricular walls
• Normal corpus callosum and cavum pericallosal artery
• Normal cerebellar vermis and posterior fossa
• No neural tube defect

💡 Differential Diagnosis

• Lobar holoprosencephaly
• Septo-optic dysplasia
• Isolated absent CSP
• Corpus callosal dysgenesis (if associated)

🧬 Genetic Associations

• FLNA mutations (most common cause of bilateral PVNH)
• ARFGEF2 mutations
• Chromosomal microdeletions/duplications
• Occasionally associated with congenital CMV infection

📌 Recommended Evaluation

• Dedicated fetal neurosonography
• Fetal MRI to confirm heterotopia and assess cortical malformations
• Chromosomal microarray
• Trio exome sequencing (especially FLNA if bilateral PVNH)
• Maternal TORCH screening if clinically indicated
• Serial ultrasound for progression of ventriculomegaly

⚠️ Prognosis

• Depends on the underlying diagnosis and associated brain abnormalities.
• Isolated mild ventriculomegaly generally has a favorable outcome.
• Periventricular nodular heterotopia carries an increased risk of postnatal epilepsy and neurodevelopmental delay, although intelligence may be normal in isolated cases.
• If associated with lobar holoprosencephaly or septo-optic dysplasia, prognosis is significantly poorer.

23/07/2026

🩺 Case of the Day
Fetal Choledochal Cyst – A Rare Prenatal Diagnosis

💡 Not every fetal abdominal cyst is bowel or ovarian in origin. A tiny communication with the gallbladder can completely change the diagnosis!

━━━━━━━━━━━━━━
Clinical Case

A routine third-trimester fetal ultrasound revealed a well-defined cystic lesion in the right upper quadrant of the fetal abdomen.

Ultrasound Findings

🔹 Thin-walled anechoic cyst in the right upper abdomen
🔹 Definite communication with the gallbladder
🔹 Mild intrahepatic biliary duct dilatation

Most Likely Diagnosis

✅ Prenatal Choledochal Cyst (likely Todani Type I)

━━━━━━━━━━━━━━

Why is this diagnosis important?

Choledochal cysts are rare congenital dilatations of the biliary tree. Prenatal diagnosis allows:

✔ Early differentiation from cystic biliary atresia
✔ Appropriate antenatal surveillance
✔ Planned delivery at a tertiary care center
✔ Timely postnatal surgical management before complications such as cholangitis, pancreatitis or liver fibrosis develop

━━━━━━━━━━━━━━
Differential Diagnosis

🔸 Cystic biliary atresia (most important)
🔸 Enteric duplication cyst
🔸 Hepatic cyst
🔸 Mesenteric or omental cyst
🔸 Pancreatic cyst
🔸 Adrenal cyst

━━━━━━━━━━━━━━
Sonographic Pearls

✨ Right upper quadrant location
✨ Anechoic, thin-walled cyst
✨ Communication with the gallbladder or common bile duct—the diagnostic clue
✨ Mild intrahepatic biliary dilatation may be present
✨ Normal gastrointestinal and urinary anatomy

━━━━━━━━━━━━━━

Prenatal Management

📌 Serial ultrasound to monitor cyst size and biliary dilatation
📌 Consider fetal MRI if the diagnosis remains uncertain
📌 Counsel parents regarding the differential diagnosis, especially cystic biliary atresia
📌 Routine obstetric management if isolated

━━━━━━━━━━━━━━

After Birth

👶 Early postnatal abdominal ultrasound

👨‍⚕️ Evaluation by a pediatric hepatobiliary surgeon

🩺 Definitive treatment is surgical excision of the c

18/07/2026

❤️ Case of the Day- Pulmonary Valve Dysplasia with Mild Pulmonary Stenosis and Post-stenotic Dilatation of the Main Pulmonary Artery

📅 Prenatal Diagnosis | Fetal Echocardiography

Clinical Scenario

A detailed fetal echocardiography was performed following suspicion of an enlarged pulmonary artery on the anomaly scan.

Key Ultrasound Findings

🔹 Thickened, echogenic pulmonary valve leaflets suggestive of valve dysplasia.
🔹 Mild pulmonary valve stenosis with increased flow velocity (PSV: 120–180 cm/s).
🔹 Aliased turbulent flow across the post stenosis segment
🔹 Post-stenotic dilatation of the main pulmonary artery measuring 7.7 mm.
🔹 Prominent ductal arch with maintained antegrade flow through the ductus arteriosus.
🔹 No tricuspid or mitral regurgitation.
🔹 No right ventricular dysfunction or hydrops.
🔹 Aberrant right subclavian artery (ARSA) noted.
🔹 No additional major structural anomalies identified.

Diagnosis

✅ Pulmonary valve dysplasia with mild pulmonary stenosis.
✅ Post-stenotic dilatation of the main pulmonary artery.
✅ Associated ARSA.

Differential Diagnosis

• Isolated valvular pulmonary stenosis
• Dysplastic pulmonary valve syndrome
• Tetralogy of Fallot with mild RVOT obstruction
• Noonan syndrome-associated pulmonary valve dysplasia
• Supravalvular pulmonary stenosis

Genetic Considerations

🧬 Isolated mild pulmonary stenosis generally carries an excellent prognosis.
🧬 Dysplastic pulmonary valves have a recognized association with Noonan syndrome and other RASopathies, particularly when additional findings are present.
🧬 ARSA is usually a benign anatomical variant but is considered a soft marker for chromosomal abnormalities, especially trisomy 21, when associated with other markers or anomalies.
🧬 Genetic counseling and consideration of chromosomal microarray or exome sequencing may be appropriate if extracardiac anomalies or syndromic features are identified.

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