Current controversies in prenatal diagnosis: Expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered |
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| Authors: | Lieve Christiaens Lyn S Chitty Sylvie Langlois |
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| Institution: | 1. Illumina Inc., San Diego, California, USA
University Hospital of Utrecht, Utrecht, Netherlands;2. Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK;3. Department of Medical Genetics, University of British Columbia, Vancouver, Canada |
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| Abstract: | Non-invasive prenatal testing (NIPT) based on analysis of cell free DNA circulating in the maternal plasma has been available clinically to screen for chromosomal abnormalities since 2011. There is significant evidence to suggest that NIPT has revolutionised prenatal screening for the common trisomies 13, 18, and 21. However, the evidence in favour of its extended use to screen for conditions other than these trisomies remains a topic of debate with no national or international organisation supporting clinical implementation for these indications. In the debate presented here – "Expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered" – we will see the pros and cons of screening for a wider range of chromosomal problems. The discussion presented swung the vote from 65% in favour and 35% against before the arguments were voiced to 41% in favour and 59% against. This significant swing in the vote indicates that the majority of our community feel more evidence is required before clinical implementation of extended NIPT. |
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