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2 results

  • Case 13 - A 25-Year-Old with an Echogenic Cardiac Focus at 19 Weeks’ Gestation

  • from Section 2 - Antepartum (Mid-trimester)
  • Edited by Peter F. Schnatz, The Reading Hospital, Pennsylvania, D. Yvette LaCoursiere, University of California, San Diego, Christopher M. Morosky, University of Connecticut School of Medicine, Jonathan Schaffir, The Ohio State University College of Medicine, Vanessa Torbenson, Mayo Clinic Alix School of Medicine, David Chelmow, Virginia Commonwealth School of Medicine
  • Book:
    Pregnancy Complications
    Published online:
    08 April 2025
    Print publication:
    01 May 2025, pp 40-42

  • Summary

    In a low-risk patient with negative cell-free DNA screening for Down syndrome, the finding of an isolated soft marker on second-trimester ultrasound such as a single echogenic intracardiac focus is not clinically significant. In the absence of other abnormal ultrasound findings, no follow-up testing is recommended for this isolated result. Reassurance can be provided to the patient. In the era of immediate release of ultrasound reports with the electronic medical record, anticipatory guidance regarding possible findings can be reviewed with patients at the time of ordering tests and studies to reduce anxiety.

  • 10 - Fetal karyotyping: what should we be offering and how?

  • Edited by Sean Kehoe, Lyn Chitty, Tessa Homfray
  • Book:
    Reproductive Genetics
    Published online:
    05 February 2014
    Print publication:
    01 November 2009, pp 147-158

  • Summary

    In the context of developing prenatal diagnosis (PND) service delivery models, there is no doubt that the most significant innovation will come from the application of a technology known as array comparative genomic hybridisation (aCGH), which in some postnatal clinical scenarios will soon replace conventional karyotyping as the front-line 'whole-genome test'. There are a number of scenarios that may provide drivers for the adoption of aCGH as the first-line whole-genome test following invasive PND, of which the following two appear the most probable: cases that, following invasive PND, are reported to be normal following quantitative fluorescence polymerase chain reaction (QF-PCR) and/or karyotyping but have abnormal ultrasound findings; and cases that are normal following non-invasive PND (NIPD) for the autosomal aneuploidies but have abnormal ultrasound findings (first trimester or at the 18-20 week anomaly scan).