downs sydnrome Flashcards
1
Q
problems with
A
Of these, atrioventricular septal defects (AVSD) are the most common, followed by ventricular septal defects (VSD).
Patients with trisomy 21 are also more likely to have a patent ductus arteriosus (PDA)
2
Q
mx
A
Paediatric assessment and specialist review for conditions associated with Down Syndrome (main concern is CHD risk)
Genetic counselling for parents
Affected children will require early interventional treatments
Affected children will need personalised education plans and social support
3
Q
screening resutls
A
low AFP, low oestradiol , low PAPP-a , high bhcg and thickened nuchal translucency
4
Q
when is the combined test
A
11-13=6 week