Lady came to find out the possibility of her child having cystic fibrosis as her brother has CF.
Approach
GRIPS & Paraphrase
- I understand you’ve got some concerns you would like to talk to me about
- Empathise with her for having a family member with CF and commend her for coming to enquire about CF.
- How is your brother doing?
- How is the family coping generally
- Ask the patient for history of cough, breathlessness, dyspnea, bloating, diarrhoea, vomiting, recurrent chest infection)
- Apart from your brother, is there anyone else with cystic fibrosis in your family?
- Is there any of the above symptoms in your partner?
- Any of these symptoms in your partners family?
Relevant PMAFTOSA:
- smoking history
- Menstrual history
- Sexual history
- Contraceptive history
Examination
- Tell the patient to move closer so you can draw a family tree of CF
Discussion
- You mentioned that you came to find out about ……… am I correct?
- So this is part of what we call pre-conception diagnosis
- From what you told me so far, it is not likely you have cystic fibrosis, however, there is a chance you may be a carrier because of the history in your brother
- If you and your partner are carriers, the chances of having a baby with cystic fibrosis is 1/4
- If both of you are not carriers, the chances of having a baby with cystic fibrosis is 0
Management
- Investugation
– Do routine blood tests
– Moving forward, we will be referring both you and your partner to the genetic clinic for genetic testing
– If the patient asks about diagnosing CF in pregnancy, then tell her about Chorionic villi sampling CVS or Amniocentesis.
– Newborn babies can be tested with the heel prick test or sweat test (where necessary) - Offer leaflets
- Inform seniors
- Address any other concerns
Summary
- Grips
- Paraphrase
- History of cystic fibrosis in the lady
- Family history of cystic fibrosis in the lady
- History of cystic fibrosis in your partner/his family members
- Relevant PMAFTOSA
- Menstrual history
- Social history
- Contraceptive history
- Examine
- Do routine blood tests
- Explain the chances
- Refer to genetic clinic
- Offer leaflets
- Inform seniors
- Address any other concerns