Question

What does down syndrome look like on an ultrasound?

Answer 1

Down syndrome:

1. It is a chromosomal state characterized by flat facial features and decreased muscle tone (hypotension) in infancy.
2. Down syndrome is caused by trisomy of all or important parts of chromosome 21 and is associated with intellectual disability.

On an ultrasound, special features serve as ultrasound markers. In Down syndrome fetuses, these are as follows:

1. A thickened nose folds (semi-transparent nose),
2. Duodenal atresia or double bladder,
3. Echo-sourced intestine,
4. Heart abnormalities,
5. Choroid plexus cyst,
6. Echogenic intracardiac focus,
7. Enlarged kidney (renal pelvis dilatation),
8. Shortened thighs,
9. Short humerus, and
10. Single umbilical artery.