Down's syndrome Flashcards
What is Down’s explanation
Down syndrome is a genetic syndrome comprised of ADDITIONAL GENETIC MATERIAL on C.21
There is no direct cause however there is a strong link between maternal age + Downs
What does Down syndrome lead to (not risk) just features 4
Down syndrome can cause a wide range of features that we can see visually
Low set small ears
Shorter neck
Single palmar crease
Large gap between 1st + 2nd toe
Those with Down’s are at risk of having what (3)
Those with Down’s are also at a risk of having heart problems / neurological / endocrine issues
-> CHD
-> Cognitive / learning disabilities
-> T1DM / Hypothyroidism
Is there a cure for Downs
There is no cure for Down’s but will need a MDT to support them which may include:
Cardiologist
Physiotherapist
OCT
Support workers
What is it important to stress for parents with downs?
Its important to stress that many will live a happy + fulfilling life developing at their own pace
many make it to their 60s
How do we test for Down’s? (broad overview 2)
Screening
Diagnosis
Explain the screening process of Downs
We do something called a COMBINED TEST at 11-14 weeks we’ll take blood from you that will look for 2 key markers (PAPPA / Beta - HCG)
We’ll also do an ultrasound of your tummy
The results are either positive / negative and if they’re positive (high probability >1/150) we’ll look to doing another test which is the gold standard test
Explain the diagnosis process of Downs
At 15-20 weeks we’ll take some fluid from your amniotic sac that gives us important information that suggests whether your child has Down’s
If less invasive –> (find out)
What do we do postnatally for baby check (3)
Eye / ear tests
Blood tests for thyroid
Echo scan of heart
What do we offer parents with patients with Down’s
Counselling / Advice
What cancer is Downs associated with (RF)
ALL
What neurological condition do Downs have (RF)
Alzheimers
