Preconception Counselling: Cystic Fibrosis

Casebank Counselling
1

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
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