The image shows a fetus with Anencephaly - a severe neural tube defect with absent calvarium, exposed/degenerated brain tissue, prominent/bulging eyes (proptosis), and a characteristic "frog-like" facial appearance. The trunk and limbs appear structurally intact.
Here is a well-structured 3-mark spotting question for this specimen:
Spotting Question (3 Marks)
Q. The given image shows a fetal specimen. Identify the condition and answer the following:
(a) Name the condition shown. (1 mark)
Anencephaly (part of the Acrania-Anencephaly sequence).
(b) What is the embryological basis of this condition? (1 mark)
Failure of closure of the anterior (cranial) neuropore during primary neurulation (normally closes between days 24-26 of embryonic development), resulting in progressive degeneration of the exposed forebrain by amniotic fluid.
(c) Name two maternal risk factors / preventive measures associated with this condition. (1 mark)
- Risk factor: Folate (folic acid) deficiency during the periconceptional period.
- Prevention: Periconceptional folic acid supplementation (0.4-4 mg/day) significantly reduces the risk of neural tube defects including anencephaly.
Key Features Visible in the Specimen (for spotting)
| Feature | Significance |
|---|
| Absent cranial vault (acrania) | Failure of calvarial ossification secondary to open neural tube |
| Absent cerebral hemispheres | Brain exposed to amniotic fluid → degenerates into area cerebrovasculosa |
| Bulging/prominent eyes (proptosis) | Absent orbital roof due to absent frontal bone |
| "Frog-like" facies | Characteristic flattened face with depressed nasal bridge, low-set ears |
| Normal trunk and limbs | Defect is isolated to the cranial region |
Additional examiner tip: This condition is incompatible with life. It is the most common lethal congenital malformation and is detectable prenatally by elevated maternal serum AFP and fetal ultrasound (absence of calvarium above the orbits).