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Folio edition · Set in Instrument Serif & Archivo

Paeds Vivasfetal-neonatal-and-perinatal

Paeds Vivas · fetal-neonatal-and-perinatal

Fetal assessment, prenatal screening and counselling — branching viva

Branching viva from a positive cell-free DNA screen through no-call interpretation, soft marker reasoning, abnormal Doppler delivery planning and the paediatrician's antenatal role.

branching clinical structured oral
On this page & tools

Target exams

RACP General PaediatricsRACP DCEMRCPCH ClinicalRCPSC Pediatrics

Target exams

RACP General PaediatricsRACP DCEMRCPCH ClinicalRCPSC Pediatrics
Prompt
You are the paediatric registrar on the antenatal liaison round. A patient has a positive cell-free DNA screen for trisomy 21. The examiner releases information in stages about counselling, no-call reasoning, soft markers, abnormal Doppler and the paediatrician's planning role.

Station opening

Examiner: "The cell-free DNA screen is positive for trisomy 21. What do you tell the patient?" [1]

Strong candidate (must-hit)

  • A positive screen is not a confirmed diagnosis; it raises probability and warrants counselling and an offer of diagnostic testing. [1] [16]
  • Names chorionic villus sampling or amniocentesis as diagnostic options, gated by gestation, with contemporary procedure-related risk. [11]
  • Counsels non-directively, offers written information and time, and does not push a decision in the same breath as the result. [18]
  • Names the next step and a named owner before the patient leaves. [18]

Weak candidate

  • "Your baby has Down syndrome." [1]
  • Quoting a high legacy procedure-related loss rate to deter diagnostic testing. [11]

Branch A — Why pre-test probability matters

Examiner: "Does this positive result mean the same thing in a 19-year-old and a 41-year-old?" [1]

Strong

  • No. Positive predictive value depends on pre-test probability, which rises with maternal age and other factors. [1] [16]
  • States that the same screen-positive result carries a different chance of a true fetus in the two patients. [1]
  • Uses pre-test probability to frame counselling and the offer of diagnostic testing. [16]

Weak

  • "A positive is a positive; it means Down syndrome regardless." [1]
  • Conflates screen sensitivity with positive predictive value. [16]

Branch B — The no-call result

Examiner: "A different patient has a no-call cell-free DNA result. Is she low-risk?" [1]

Strong

  • No. A no-call is its own result state and carries increased risk of aneuploidy and fetal growth restriction. [1] [16]
  • Options are repeat cell-free DNA, diagnostic testing or detailed ultrasound with surveillance, chosen by risk. [1]
  • Does not relabel the no-call as a pass or a low-risk result. [16]

Weak

  • "They couldn't run the test, so she is fine." [1]
  • "Just repeat the test and if it is normal she is clear." [16]

Branch C — Soft marker reasoning

Examiner: "The anatomy scan shows an isolated echogenic intracardiac focus. What now?" [6]

Strong

  • Reads the soft marker against the prior screen, not in isolation. [6]
  • In a reassuringly screened pregnancy, an isolated soft marker usually changes nothing; in an unscreened pregnancy it recalculates risk. [6]
  • Uses the SMFM framework for clinically significant isolated markers. [6]

Weak

  • "An echogenic focus means the baby is at high risk of aneuploidy." [6]
  • Ignoring the prior screening result entirely. [6]

Branch D — Abnormal Doppler and delivery timing

Examiner: "At 29 weeks the fetus is below the third centile with absent end-diastolic flow. What is the plan?" [8]

Strong

  • Classifies as early-onset placental fetal growth restriction; Doppler drives surveillance and delivery timing. [8] [9]
  • Intensifies Doppler surveillance, considers admission, and balances prematurity against intrauterine compromise when timing delivery. [8]
  • Gives antenatal corticosteroids for fetal lung maturation and, at very preterm gestations, magnesium sulfate for neuroprotection, gated by gestation. [8]
  • Alerts the neonatal team and plans place and time of delivery with neonatal capability present. [18]

Weak

  • "It is just a small baby; review in four weeks." [8]
  • Discharging with no surveillance plan or neonatal alert. [9]

Branch E — The paediatrician's role

Examiner: "Trisomy 21 is confirmed. As the paediatrician, what is your antenatal role?" [18]

Strong

  • Translates the diagnosis into a postnatal plan: neonatal team readiness, feeding and cardiac surveillance, and developmental follow-up. [17] [18]
  • Holds the medical-home role through birth and beyond; coordinates genetics, cardiology and allied health. [17]
  • Counsels the family about realistic outcomes and support without ableism. [18]

Weak

  • "That is obstetrics; I will see the baby after birth." [18]
  • Offering a single outcome narrative that ignores family values and support. [18]

References

  1. [1]Norton ME, Jacobsson B, Swamy GK, et al. Cell-free DNA analysis for noninvasive examination of trisomy. The New England journal of medicine, 2015.PMID 25830321
  2. [6]Society for Maternal-Fetal Medicine, Prabhu M, Kuller JA, et al. SMFM Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester. American journal of obstetrics and gynecology, 2021.PMID 34171388
  3. [8]Lees CC, Romero R, Stampalija T, et al. Clinical Opinion: The diagnosis and management of suspected fetal growth restriction: an evidence-based approach. American journal of obstetrics and gynecology, 2022.PMID 35026129
  4. [9]American College of Obstetricians and Gynecologists. Fetal Growth Restriction: ACOG Practice Bulletin, Number 227. Obstetrics and gynecology, 2021.PMID 33481528
  5. [11]Salomon LJ, Sotiriadis A, Wulff CB, et al. Risk of miscarriage following amniocentesis or chorionic villus sampling: systematic review of literature and updated meta-analysis. Ultrasound in obstetrics & gynecology, 2019.PMID 31124209
  6. [16]Society for Maternal-Fetal Medicine Publications Committee. SMFM Statement: clarification of recommendations regarding cell-free DNA aneuploidy screening. American journal of obstetrics and gynecology, 2015.PMID 26458766
  7. [17]Donofrio MT, Moon-Grady AJ, Hornberger LK, et al. Diagnosis and treatment of fetal cardiac disease: a scientific statement from the American Heart Association. Circulation, 2014.PMID 24763516
  8. [18]Benachi A, Sarnacki S. Prenatal counselling and the role of the paediatric surgeon. Seminars in pediatric surgery, 2014.PMID 25459006