O&G Cases · Antenatal care — prenatal diagnosis
Prenatal diagnosis — counselling an uncertain result
Communication station: counsel a variant of uncertain significance after prenatal microarray, explain what a VUS is and is not, and avoid acting on uncertainty as if it were certainty. Tests variant interpretation, the ACMG framework, and non-directive counselling. Includes assessor key and marking domains.
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Target exams
Station brief
Format. Communication station, approximately 12 minutes. You are the obstetric registrar. An actor plays the woman; the assessor feeds new information. Clinical genetics is available. [5]
Candidate instruction. Explain what a variant of uncertain significance is and is not, avoid recommending irreversible action on uncertainty, arrange clinical genetics referral and parental segregation testing, and support the woman through her distress. [5]
References1ShowHide
- [5]Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Genet Med, 2015.PMID 25741868