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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 oral2 min readVerification in progress

Target exams

RACP General PaediatricsRACP DCEMRCPCH ClinicalRCPSC Pediatrics
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Study tools

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]
Paediatrics Fellowship Pro

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You have read the opening of this viva. The complete unit — every section and its primary-source references — is part of the Paediatrics Fellowship fellowship library.

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References8ShowHide
  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]Prabhu M, Kuller JA, Biggio JR 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
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