Down Syndrome

Question 1

What are the pre-natal screening tests for down syndrome?

Answer 1

Ultrasound (For physical signs of DS)

Risk factors
* Mother older than 35
* Presence of maternal proteins (Low estriol, PAPP-A, Inhibin, aFP, hCG)

Question 2

What are some pre-natal diagnostic tests for down syndrome?

Answer 2

Chorionic villus sampling (1st trimester)
* Chorionic villi of placenta contain fetal DNA
* Positive result if extra chromosome 21 present (Trisomy 21)

Amnioccentesis (2nd trimester)
* Amniotic fluid contain fetal cells for DNA testing
* Done in 2nd trimester so there is sufficient amniotic fluid to perform the test

Question 3

What are some intellectual signs and symptoms of down syndrome?

Answer 3

Short attention span
Poor judgement
Implusive behaviour
Slow learning
Delayed language and speech development

Question 4

What are some physical signs and symptoms of down syndrome?

Answer 4

Craniofacial features
* Slanted, almond shaped eyes
* Smaller ears
* Upper eyelid folding down in corner of the eye (epicanthic eye fold)
* Flat nasal bridge
* Short nose
* Flattened facial profile
* Protruding tongue
* Excess skin on the back of the neck

Other features
* One single palmar crease (Normally separated)
* Big space between first and second toes
* More flexible joints
* Hypotonia (Lower muscle tone)

Question 5

What are some associated diseases with down syndrome?

Answer 5

Congenital heart disease
* Half of people with down syndrome
* Commonly atrioventricular septal defect

Blood cancers
* More common in people with down syndrome

Epilepsy
Dementia
Hearing loss
Infertility