Cystic fibrosis — prenatal counselling / prognosis
Appears 0×
Teaching point — how the wording changes the answer
Give BALANCED counselling: CFTR modulators have transformed prognosis (median survival now >50 y) but CF remains a serious chronic multisystem disease — recurrent chest infections, pancreatic insufficiency, frequent hospitalisations. Do NOT overstate cure, and do NOT quote the outdated 'dead by 30'.
Q204
CFTR modulator-responsive mutation, considering termination, asks prognosis
Key clue
Modulator-responsive named
Show answer
Likely to respond to modulator therapy (but still chronic disease)
Q239
CF counselling (modulators useful / recurrent infection / dead by 30)
Key clue
Distractor 'dead by 30' is wrong
Show answer
Modulators can be useful + recurrent infections
Q270/Q308
CF fetus counselling — modulator effective vs frequent admissions
Key clue
Balance benefit + burden
Show answer
Modulator therapy effective but frequent admissions
Q418/Q444/Q482
CF fetus, parents considering termination — long-term outlook
Key clue
Emphasis on burden
Show answer
Explain long-term burden + recurrent hospitalisations despite treatment
Q212
Cystic fibrosis diagnosis question
Key clue
Dx stem
Show answer
Cystic fibrosis (sweat chloride / CFTR)