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Paeds Casesfetal-neonatal-and-perinatal

Paeds Cases · fetal-neonatal-and-perinatal

No-call cell-free DNA result in a higher-risk pregnancy — structured clinical encounter

Structured encounter testing non-directive counselling of a no-call cell-free DNA result, screen-versus-diagnosis reasoning, choice between repeat and diagnostic testing, and capability-matched rural follow-up design.

structured clinical encounter2 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
Aisha, 37 years old, 11 weeks gestation, body mass index 34, has a cell-free DNA screen that reports a no-call result due to low fetal fraction. She lives two hours from the nearest diagnostic service and asks whether the baby is fine. She has intermittent phone reception and limited leave from work.

Station brief (candidate)

You are the paediatric registrar on the antenatal liaison round. Aisha is 37 years old at 11 weeks gestation. Her cell-free DNA screen returns a no-call result due to low fetal fraction. She asks whether the baby is fine and whether she needs any further testing. She lives two hours from the nearest diagnostic service, has intermittent phone reception and limited leave from work. You have 12 minutes with the patient and 5 minutes for examiner discussion. [1] [18]

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References5ShowHide
  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. [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
  3. [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
  4. [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
  5. [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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