Down's syndrome

Question 1

Which blood tests can test for Down’s syndrome in the first trimester?

Answer 1

Betc-hCG

PAPP-A

Question 2

What can be observed in the first scan that may increase risk of Down’s syndrome?

Answer 2

Raised Foetal Nuchal Translucency

Question 3

Which tests may mothers be offered to test for Down’s syndrome?

Answer 3

Chorionic Villus Sampling (CVS)

Amniocentesis

Question 4

Which facial characteristics are associated with Down’s syndrome?

Answer 4

Prominent epicanthic folds
Protruding tongue with small mouth
Upward slanting palpebral fissures
Brushfield spots on iris
Small chin, flat nose, round face and low set ears

Question 5

What percentage of children with Down’s syndrome will have congenital heart disease?

Answer 5

50%

Question 6

What is the most common congenital heart defect associated with Down’s syndrome?

Answer 6

Atrioventricular septal defect.

Question 7

What is the second most common defect associated with Down’s syndrome?

Answer 7

Ventricular septal defect

Question 8

Name 5 gastrointestinal problems commonly associated with Down’s syndrome.

Answer 8

1. Hirschprung’s disease
2. Duodenal atresia and imperforate anus.
3. Umbilical hernia
4. Gastro oesophageal reflux
5. Coliac disease

Question 9

Which signs of Down’s syndrome are found on physical examination?

Answer 9

Hypotonia
Short neck, with excess skin at nape
Brachycephaly
Single palmar crease, short hands and fingers, sandal toe gap in feet.
Poor growth, short stature.

Question 10

Give 5 neurological problems associated with Down’s syndrome.

Answer 10

1. Learning difficulties
2. Hearing impairment
3. Strabismus, cataract
4. Epilepsy
5. Spinal cord compression secondary to atlanto-axial instability.

Question 11

What is the average IQ of a person with Down’s syndrome?

Answer 11

20-55

Question 12

Give 5 common complications of Down’s syndrome.

Answer 12

Increased risk of haematological malignancy.
Hypothyroidism.
Recurrent respiratory infection.
Alzheimer’s disease.