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.
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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]
You have read the opening of this case. The complete unit — every section and its primary-source references — is part of the Paediatrics Fellowship fellowship atlas.
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- [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
- [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
- [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
- [18]Benachi A, Sarnacki S. Prenatal counselling and the role of the paediatric surgeon. Seminars in pediatric surgery, 2014.PMID 25459006