Dr Sonal Gupta Fetal medicine

🫁 Case of the Day: Congenital Pulmonary Airway Malformation (CPAM)

📌 Clinical Summary:

Antenatal ultrasound demonstrates a right-sided fetal lung mass consistent with mixed-type CPAM (microcystic + macrocystic components) followed by thoraco-amniotic shunt.

🔍 Key Imaging Findings:

-Heterogeneous echogenic lesion in right lung
Dominant anechoic cyst
-Significant mediastinal shift to the left
-CPAM Volume Ratio (CVR): 2.04 ⚠️ (high-risk)
Fetal ascites → evolving hydrops
-Diaphragm intact; liver below diaphragm (rules out hernia)

❤️ Additional Findings
-Structurally normal heart with early systolic tricuspid regurgitation
-Placental thickening (placentomegaly ~7.8 cm)
AC ~95th centile (secondary to ascites)

⚠️ Risk Stratification
CVR > 1.6 → ↑ risk of hydrops and poor prognosis
Presence of ascites (hydrops) = critical stage.

🧠 Diagnosis:
👉 Congenital Pulmonary Airway Malformation (CPAM), mixed type
👉 Complicated by fetal hydrops

🔄 Differential Diagnosis:
-Bronchopulmonary sequestration (look for systemic feeder vessel)
-Congenital diaphragmatic hernia (excluded here)
-Bronchogenic cyst
-Hybrid lesion (CPAM + sequestration)

🛠️ Management Considerations:
Close surveillance (serial CVR, hydrops progression)

Fetal intervention indicated due to hydrops:
Thoracoamniotic shunt (for macrocystic component)
Prior aspiration (as in this case → reaccumulation noted)
Consider steroids (microcystic component)

Multidisciplinary counselling

📉 Prognosis:
Guarded to poor without intervention
Risk of:
Progressive hydrops
Pulmonary hypoplasia
Intrauterine demise

💡 Teaching Pearls
CVR is a key prognostic marker
Macrocystic lesions → shunt-responsive
Hydrops = turning point for intervention

Always evaluate:
Mediastinal shift
Diaphragm integrity
Systemic arterial supply

Case of the Day – Cervical Myelomeningocele

Findings:

* A cystic lesion is noted at the cervical region (C2–C3 level)
* The lesion appears dumbbell-shaped and contains neural elements.
* Associated posterior fossa changes:

* Small cerebellum (

Case of the Day: Fetal Lower Urinary Tract Obstruction (LUTO)- most likely posterior urethral valve (PUV)

Ultrasound Findings
-Urinary bladder: Markedly distended with classic “keyhole sign”
-Kidneys: Mildly echogenic
Measurements around 90th centile.
-Pelvicalyceal system: Bilateral severe dilatation
-Ureters: Bilaterally dilated, elongated, tortuous.
-Amniotic fluid: Normal (AFI ~11.6) → suggests preserved renal function at present

Features highly suggestive of Lower Urinary Tract Obstruction (LUTO)
Most likely etiology: Posterior urethral valves (PUV)

-Key Discussion Points
Normal amniotic fluid is a favorable prognostic indicator (early preserved renal function)

Progressive obstruction may lead to:
Renal dysplasia
Oligohydramnios → pulmonary hypoplasia
Kidneys already showing early echogenic changes → possible evolving damage

-Differential Diagnosis
Posterior urethral valves (most common)
Urethral atresia
Prune belly syndrome
Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS)

-Counselling & Management
*Genetic risk: Increased → offered amniocentesis (definitive test)

*Serial vesicocentesis:
For assessment of fetal urine biochemistry
*Fetal intervention:
Vesicoamniotic shunting may be considered.

-Prognosis: Variable, depends on:
Timing of obstruction
Renal function
Amniotic fluid volume
Multidisciplinary counselling advised (including pediatric urology)

🩺 Case of the Day: Fetal Extralobar Pulmonary Sequestration (ELS)

📌 Definition

Extralobar pulmonary sequestration is a non-functioning lung tissue mass that:

* Has no communication with bronchial tree
* Receives *systemic arterial supply (from aorta)
* Has its own pleural covering
* Can be infradiaphragmatic (suprarenal) → mimics abdominal mass

🔍 Imaging Findings (Key Case Features)

* Echogenic, well-defined mass in left suprarenal region
* Homogeneous appearance
* Crucial finding:
👉 Systemic feeding artery from descending aorta on Doppler
* No calcification

⚖️ Differentials of Left Suprarenal Fetal Mass

1. 🧠 Neuroblastoma (most important mimic)
* Heterogeneous mass
* Calcifications common
* May have cystic areas (hemorrhage)
* Internal vascularity, but no single systemic feeding artery
* Can regress spontaneously

2. 🩸 Adrenal Hemorrhage
* Initially echogenic, later cystic
* No internal vascularity
* Changes over time (key clue)
* Often associated with stress or hypoxia

3. 🫁 Extralobar Sequestration (Infradiaphragmatic type)

* Homogeneous echogenic mass
* Systemic feeding artery from aorta (diagnostic)
* Usually left-sided
* No calcification

4. 🧬 Congenital Pulmonary Airway Malformation (CPAM – rare mimic)
* Typically thoracic but may extend
* No systemic feeding vessel
* May appear cystic or echogenic

5. 🧫 Enteric Duplication Cyst (rare)

* Cystic lesion
* Double wall (gut signature)
* No Doppler feeding artery

🧬 Genetics

* Sequestration:Usually isolated, low aneuploidy risk
* Neuroblastoma: Not typically chromosomal, but postnatal workup needed

Case of the Day: Bicornuate Bicollis Uterus with Pregnancy in Right Horn

🧠 Background

A bicornuate bicollis uterus results from partial failure of fusion of the Müllerian ducts, leading to:

* Two separate uterine horns
* Two cervices (bicollis)
* Variable degree of fundal indentation

🔍 Imaging Findings

* Two distinct uterine cavities with a deep fundal cleft
* Two separate cervical canals visualized
* Single gestational sac located in the right horn
* Left horn empty
* Myometrial continuity between horns present (helps differentiate from uterus didelphys)

🧬 Classification

* Falls under Müllerian duct anomalies
* Classified as:

* Class IV anomaly (bicornuate uterus) in the American Society for Reproductive Medicine system

⚠️ Obstetric Implications

* Increased risk of:

* Recurrent miscarriage
* Preterm labor
* Malpresentation (breech/transverse)
* Intrauterine growth restriction (IUGR)
* Usually better prognosis than uterus didelphys if cavity size is adequate

🧪 Associated Anomalies

* Renal anomalies (important to screen kidneys)
* Rarely associated with vaginal septum

📊 Differential Diagnosis

* Uterus didelphys
* Septate uterus

🩺 Management & Counseling

* Routine antenatal care with:

* Serial growth scans
* Preterm labor surveillance

* Mode of delivery:

* Depends on presentation (high cesarean rates due to malpresentation)
* Surgical correction (metroplasty) not indicated during pregnancy

🧠 Case of the Day – Corpus Callosum Agenesis

🔍 Key Ultrasound Findings

* Absent cavum septi pellucidi (CSP)
* Colpocephaly (dilated occipital horns of lateral ventricles)
* Parallel orientation of lateral ventricles (“racing car sign”)
* High-riding third ventricle
* Radial arrangement of sulci (“sunburst sign” on sagittal view)
* Absent pericallosal artery on Doppler

🧬 Etiology / Associations

* Chromosomal abnormalities:

* Trisomy 13, 18
* Microdeletions/duplications
* Genetic syndromes:

* Aicardi syndrome
* Andermann syndromes

* CNS anomalies:

* Interhemispheric cyst
* Dandy-Walker spectrum
* Extra-CNS anomalies may coexist

🧪 Recommended Workup

* Detailed neurosonography
* Fetal MRI (better delineation of associated anomalies)

* Invasive testing:

* Karyotype + microarray (CMA)
* Consider gene panel if isolated

📊 Prognosis

* Isolated ACC:

* Variable outcome (many have normal or mild developmental delay)
* Non-isolated ACC:

* Prognosis depends on associated anomalies/genetics
* Higher risk of neurodevelopmental impairment

💬 Counseling Points

* Differentiate isolated vs syndromic
* Explain uncertain neurodevelopmental outcomes
* Importance of genetic testing
* Need for postnatal neurodevelopmental follow-up

📌 Case of the Day: Fetal Cytomegalovirus Infection

Confirmed Diagnosis:

Prenatal infection with Cytomegalovirus infection confirmed on PCR from amniocentesis.

🔍 Ultrasound Findings

Growth:

* Head circumference (HC) and abdominal circumference (AC) at ~10th centile → early growth restriction

Central Nervous System:

* Ventricular synechiae
* Intracranial calcifications
* Blake’s pouch cyst with open 4th ventricle (posterior fossa variant)

Abdomen:

* Hepatic calcifications
* Hyperechogenic bowel

🧠 Interpretation

The constellation of:

* Intracranial + hepatic calcifications
* Ventricular adhesions (synechiae)
* Growth restriction
* Echogenic bowel

is highly suggestive of congenital CMV infection, one of the most common intrauterine infections.

Posterior fossa finding (Blake’s pouch) may be incidental or part of broader neurodevelopmental involvement.

🧬 Genetic & Infectious Considerations

* CMV is the most common TORCH infection
* Transmission risk increases with gestation, but earlier infection → more severe sequelae
* Not a genetic disorder, but can mimic syndromic anomalies

⚠️ Prognostic Indicators (Poor Outcome Markers)

* Intracranial calcifications
* Ventriculomegaly / synechiae
* Growth restriction
* Multisystem involvement

Associated risks:

* Neurodevelopmental delay
* Sensorineural hearing loss
* Seizures

🗣️ Counselling Points

* Explain spectrum: from asymptomatic to severe neurodisability
* Serial neurosonography + fetal MRI recommended
* Discuss option of continuation vs termination depending on gestation and severity
* Postnatal follow-up essential (hearing + neurodevelopment)