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O&G CasesAntenatal care — screening and prenatal diagnosis

O&G Cases · Antenatal care — screening and prenatal diagnosis

Screen-positive result — counselling and diagnostic decision station

Simulated-patient counselling station on a screen-positive cfDNA result: explaining that cfDNA is a screening test, naming the diagnostic pathway (CVS), putting the risk in context, supporting a shared decision, and acknowledging the emotion. Includes assessor timeline, marking domains, assessor key and fail criteria.

communication4 min readVerification in progress

Target exams

FRANZCOGMRCOGABOG
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Target exams

FRANZCOGMRCOGABOG
Prompt
A 38-year-old woman (G1P0) at 12+2 weeks has just been phoned with a cell-free DNA result reported as high risk for trisomy 21. She has come to clinic frightened and asking whether the result means her baby 'definitely has Down syndrome'. She had the cfDNA privately after a normal combined screen because she wanted 'the most accurate test'. You are the registrar. You have 12 minutes.

Station brief

Format. Simulated-patient communication station, approximately 12 minutes. A trained actor plays the patient. The assessor observes and feeds one piece of new information. There is no examination and no procedure. [2]

Candidate instruction. Explain the result honestly, correct the misunderstanding that cfDNA is definitive, put the risk in context, explain the diagnostic test (CVS) and its risk, and support a shared decision. Verbalise everything. [2]

Her context. She is 38, first pregnancy, conceived naturally. She paid privately for cfDNA after a normal combined screen. She has read that cfDNA is "over 99 percent accurate" and has interpreted that as definitive. [1]

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References4ShowHide
  1. [1]Gil MM, Accurti V, Santacruz B, et al. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis Ultrasound Obstet Gynecol, 2017.PMID 28397325
  2. [2]American College of Obstetricians and Gynecologists Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226 Obstet Gynecol, 2020.PMID 32804883
  3. [3]Beta J, Zhang W, Geris S, et al. Procedure-related risk of miscarriage following chorionic villus sampling and amniocentesis Ultrasound Obstet Gynecol, 2019.PMID 30977213
  4. [4]Scheffer PG, Wirjosoekarto SAM, Becking EC, et al. Association between low fetal fraction in cell-free DNA testing and adverse pregnancy outcome: A systematic review Prenat Diagn, 2021.PMID 34350596
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