Genetic carrier screening — counselling a positive result

Communication station: break and counsel a both-partner carrier result in early pregnancy, lay out the reproductive options non-directively, and manage a couple with differing views. Tests result-breaking, residual-risk and option framing, and rapport. Includes assessor key and marking domains.

Prompt

A 29-year-old woman at 9 weeks' gestation and her partner are recalled after three-gene carrier screening shows both are carriers of cystic fibrosis. They are distressed, had not expected a positive result, and have differing views on termination. You are the registrar; the genetic counsellor is available within the hour.

Station brief

Format. Communication station, approximately 12 minutes. You are the obstetric registrar. An actor plays the woman; a second actor or the assessor plays the partner. The genetic counsellor is available. ^[1]

Candidate instruction. Break the result, explain what it means and what it does not, lay out the reproductive options without directing the choice, and acknowledge the couple's differing views. Arrange genetics referral and follow-up. ^[1]

References1Show

[1]Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) Genetic Carrier Screening (C-Obs 63), Interim Update July 2024 RANZCOG Statement, 2024.Source

Genetic carrier screening — counselling a positive result

Station brief

References1Show

[1]Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) Genetic Carrier Screening (C-Obs 63), Interim Update July 2024 RANZCOG Statement, 2024.Source