31 years old G3A2, diagnosed with Dandy walker malformation with complete agenesis of cerebellar vermis elsewhere, came to us for second opinion at 20 weeks
Ultrasound findings at 20 weeks at our centre:
– Short long bones (All the long bones were below the 1 st centile). The femur foot ratio was normal
– Inlet Ventricular septal defect
– Blake’s Pouch cyst with normal vermis
Amniocentesis was done and the sample was sent for chromosomal studies and DNA storage.
The karyotype revealed free Trisomy 21.