- Umbilical vein varix
- Timing of Cranial Markers in Open NTD
- Real world experience Open Neural tube defect and Brain Signs
- Real world experience First Trimester Megacystis – Management
- Real world experience Fetal Megacystis
- Abnormal facial profile
- Azygous Vein & ARSA
- Blakes Pouch Cyst
- Absent nasal bone (ANB)
- Choroid plexus cysts
- Chronic placental abruption
- Fetal Alcohol Syndrome
- Placenta-First Risk Stratification
Abnormal Fetal Profile
When to think microdeletions / CNVs
1. Flat / depressed midface
2. Micrognathia / retrognathia
3. Prominent premaxilla
4. Bulbous or hypoplastic nasal tip
5. Abnormal facial angle
1. Flat facial profile / midface hypoplasia
• Reduced facial angle
• Flat maxilla
• Short nasal bone (may or may not be absent)
• Normal or mildly small mandible
• Trisomy 21
• 22q11.2 deletion
2. Micrognathia or retrognathia (dominant lower face abnormality)
• Receding chin
• Abnormal inferior facial angle
• Often progressive with gestation
Microdeletions:
• 22q11.2 deletion
• 17p13.3 (Miller–Dieker region)
• 4p16.3 (Wolf–Hirschhorn)
3. Prominent premaxilla / protruding upper lip
Profile looks “pushed forward” in the upper face.
Associations:
• 22q11.2 deletion
• Trisomy 18
4. Flat face + short palpebral fissures + smooth profile
• 7q11.23 deletion (Williams syndrome)
Prenatal hints
• Flat nasal bridge
• Full lips (hard prenatally)
• Cardiac: supravalvular aortic stenosis
• Growth restriction later
5. “Bulbous” or hypoplastic nasal tip
• 22q11.2 deletion
• 9p deletion
• 3p deletion
6. Severe facial dysmorphism + CNS anomalies
Any facial abnormality with:
• Lissencephaly
• Agenesis of corpus callosum
• Ventriculomegaly
• 17p13.3 deletion (Miller–Dieker)
• 1p36 deletion
When facial abnormality is non-isolated
• Cardiac defect
• Thymic hypoplasia
• Cleft / suspected cleft palate
• CNS anomaly
• IUGR
• Multiple soft markers