Trisomy 21

Question 1

Features

Answer 1

Hypotonia
Upslanting eyes, often skin fold in inner corner
Macroglossia
Flat back of head
Below average weight and length at birth
Single palmar crease
Short neck with excess skin at back
Flattened facial profile and nose
Small head, ears and mouth
White brushfield spots on iris
Wide, short hands and fingers
Clinodactyly
Wdiely spaced 1st and 2nd toe

Question 2

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Answer 2

Dev delay
Learning difficulties
Impulsive, poor judgement, decr attention span
ASD, ADHD
hypothyr and horm probs
hear loss eg glue ear
vis probs- short or long sighted, squint, infecs, cataracts, nystag, keratoconus, glaucoma
GI probs- constip, diarr, coeliac, reflux, hirschprungs
CHD- mostly septal defect
Recurrent infec eg pneumonia
Dementia

Question 3

screening

Answer 3

Combined blood (hCG, PAPP) and US nuchal translucency 11-13 plus 6 weeks
Quadruple bloos (hCG, aFP, uE3, inhibin A) up to 20wk
Chorionic villus sample from placenta- 11-14wk
Amniocentesis- 15-20wk
future maternal blood test for fetal DNA