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.
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Target exams
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]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
- [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
- [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
- [9]American College of Obstetricians and Gynecologists. Fetal Growth Restriction: ACOG Practice Bulletin, Number 227. Obstetrics and gynecology, 2021.PMID 33481528
- [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
- [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
- [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
- [18]Benachi A, Sarnacki S. Prenatal counselling and the role of the paediatric surgeon. Seminars in pediatric surgery, 2014.PMID 25459006