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1 results

  • 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).