Revision - Down's

Question 1

Epicathic folds vs palpebral fissures?

Answer 1

Epicanthal folds –> folds of skin covering the medial portion of the eye and eyelid.

Palpebral fissure –> gaps between the lower and upper eyelid.

Question 2

Characteristic features of Down’s syndrome?

Answer 2

1) Face:
- upslanting palpebral fissures
- prominent epicanthal folds
- Brushfield spots in iris
- protruding tongue
- small, low-set ears
- round/flat face

2) Flat occiput

3) Single palmar crease

4) Hypotonia

5) Congenital heart defects

6) Duodenal atresia

7) Hirschsprung’s disease

Question 3

What is risk of Down’s syndrome in maternal age of ≥45 y/o?

Answer 3

1 in 50 or greater

Question 4

What is risk of Down’s syndrome in maternal age of 20 y/o?

Answer 4

1 in 1500

Question 5

What is the most common mutation causing Down’s syndrome?

Answer 5

No-disjunction (94%)

Question 6

What is non-disjunction?

Answer 6

The failure of one or more pairs of homologous chromosomes or sister chromatids to separate normally during nuclear division, usually resulting in an abnormal distribution of chromosomes in the daughter nuclei.

Question 7

What translocation can result in Down’s syndrome?

Answer 7

Robertsonian translocation

Question 8

How is fertility impacted in Down’s (in males vs females)?

Answer 8

Males - almost always infertile

Females - usually subfertile

Question 9

What is a very common condition resulting in hearing problems in people with Down’s?

Answer 9

OM w/ effusion & glue ear

Question 10

When does the combined test take place?

Answer 10

11-13+6 weeks

Question 11

What does the combined screening test for Down’s test consist of?

Answer 11

1) maternal hCG
2) maternal PAPP-A
3) nuchal translucency

Question 12

What does the triple test for Down’s consist of?

Answer 12

1) hCG
2) AFP
3) oestriol

Question 13

When can the triple & quadruple tests be performed?

Answer 13

14-20 weeks

Question 14

What does the quadruple test for Down’s consist of?

Answer 14

1) b-HCG
2) AFP
3) serum oestriol
4) inhibin-A

Question 15

The screening tests provide a risk score for the fetus having Down’s syndrome.

When are women offered further tests?

Answer 15

If risk if ≥1 in 150

Question 16

What 3 further tests can be offered to women with high risk for Down’s?

Answer 16

1) Chorionic villus sampling (CVS)

2) Amniocentesis

3) Non-invasive prenatal testing (NIPT)

Question 17

What does chorionic villus sampling involve?

Answer 17

US guided biopsy of placenta

Question 18

What does amniocentesis involve?

Answer 18

US guided biopsy of placental fluid

Question 19

What are the 3 key classic physical features of Turner’s syndrome to look out for in exams?

Answer 19

1) Short stature
2) Webbed neck
3) Widely spaced nipples

Question 20

What arm abnormality may be seen in Turner’s?

Answer 20

Cubitus valgus

Question 21

What is cubitus valgus?

Answer 21

The angle of the forearm at the elbow is exaggerated, angled away from the body.

Question 22

What is the most common renal abnormality in Turner’s?

Answer 22

Horseshoe kidney

(When two kidneys are fused or joined together. They form a shape like a horseshoe).

Question 23

What are some associated conditions with Turner’s syndrome?

Answer 23

1) recurrent OM

2) recurrent UTIs

3) coarctation of aorta

4) hypothyroidism

5) HTN

6) obesity

7) diabetes

8) osteoporosis

Question 24

What can be given in Turner’s to help establish female 2ary sex characteristics and regulate the menstrual cycle?

Answer 24

oestrogen & progesterone replacement