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Paeds Casesgenetics-dysmorphology-and-metabolism

Paeds Cases · genetics-dysmorphology-and-metabolism

Variant of uncertain significance on prenatal microarray — structured clinical encounter

Structured encounter testing non-directive counselling of a variant of uncertain significance on prenatal microarray, parental testing strategy, phenotype correlation, and honest uncertainty management without over-interpretation.

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
Priya, 34 years old, 18 weeks gestation, had an amniocentesis following detection of bilateral ventriculomegaly on the mid-trimester anatomy scan. The chromosomal microarray returns a copy-number variant classified as a variant of uncertain significance. She has read the report and asks whether her baby will have a disability.

Station brief (candidate)

You are the paediatric registrar on the fetal medicine multidisciplinary round. Priya is 34 years old at 18 weeks gestation. Her mid-trimester anatomy scan showed bilateral ventriculomegaly. Amniocentesis was performed and the chromosomal microarray returned a copy-number variant classified as a variant of uncertain significance. She has Googled the finding and is frightened. She asks whether her baby will have a disability and whether she should "do something about it." You have 12 minutes with the patient and 5 minutes for examiner discussion. [6] [11]

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References4ShowHide
  1. [1]Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. The New England journal of medicine, 2012.PMID 23215555
  2. [6]Stosic M, Levy B, Wapner R. The use of chromosomal microarray analysis in prenatal diagnosis. Obstetrics and gynecology clinics of North America, 2018.PMID 29428286
  3. [7]American College of Obstetricians and Gynecologists. Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin Summary, Number 226. Obstetrics and gynecology, 2020.PMID 32976375
  4. [11]Lord J, McMullan DJ, Eberhardt RY, et al. Prenatal exome sequencing in congenital heart disease (CODE) study. Ultrasound in obstetrics & gynecology, 2021.PMID 32388881
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