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Updated: Apr 11, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Will the introduction of non-invasive prenatal testing for Down's syndrome undermine informed choice?
Caroline Silcock1, Lih-Mei Liao1, Melissa Hill2
1University College London Hospitals NHS Foundation Trust & UCL Institute for Women's Health, London, UK.
Objective:
To investigate whether the introduction of non-invasive pre-natal testing for Down's syndrome (DS) has the potential to undermine informed choice.
Participants:
Three hundred and ninety-three health professionals; 523 pregnant women.
Methods:
A cross-sectional questionnaire study across nine maternity units and three conferences in the UK designed to assess opinions regarding test delivery and how information should be communicated to women when offered Down's syndrome screening (DSS) or diagnosis using invasive (IDT) or non-invasive testing (NIPT).
Results:
Both pregnant women and health professionals in the NIPT and DSS groups were less likely than the IDT group to consider that testing should take place at a return visit or that obtaining written consent was necessary, and more likely to think testing should be carried out routinely. Compared to health professionals, pregnant women expressed a stronger preference for testing to occur on the same day as pre-test counselling (P = 0.000) and for invasive testing to be offered routinely (P = 0.000). They were also more likely to indicate written consent as necessary for DSS (P = 0.000) and NIPT (P < 0.05).
Conclusions:
Health professionals and pregnant women view the consenting process differently across antenatal test types. These differences suggest that informed choice may be undermined with the introduction of NIPT for DS into clinical practice. To maintain high standards of care, effective professional training programmes and practice guidelines are needed which prioritize informed consent and take into account the views and needs of service users.
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