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2 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).

  • 15 - New advances in prenatal genetic testing: the parent perspective

  • Edited by Sean Kehoe, Lyn Chitty, Tessa Homfray
  • Book:
    Reproductive Genetics
    Published online:
    05 February 2014
    Print publication:
    01 November 2009, pp 199-204

  • Summary

    This chapter uses Antenatal Results and Choices' (ARC's), extensive experience with expectant parents to explore the potential implications for them of new techniques in prenatal genetic testing, particularly advances in non-invasive prenatal diagnosis (NIPD). The fact that NIPD is likely to be offered well within the first trimester will be welcome to many parents as potentially providing earlier reassurance. Although information provision to women about the purpose of antenatal ultrasound is improving, we cannot overestimate the profound impact when the scan shows that there may be something wrong with an unborn baby. Media interest in advances in prenatal genetic testing is high and news stories almost always spark debates about ethical issues. From ARC's perspective, advances in NIPD and other forms of genetic testing that can offer a safe way to obtain diagnostic information will be of significant benefit to parents and families.