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  • Women’s choices in non-invasive prenatal testing for aneuploidy screening: results from a single centre prior to introduction in England

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Original article
Women’s choices in non-invasive prenatal testing for aneuploidy screening: results from a single centre prior to introduction in England
  1. Adalina Sacco1,2,
  2. Hilary Hewitt2,
  3. Pranav Pandya1,2
  1. 1 Department of Maternal and Fetal Medicine, University College London Institute for Women’s Health, London, UK
  2. 2 Fetal Medicine Unit, University College London Hospitals NHS Foundation Trust, London, UK
  1. Correspondence to Dr Adalina Sacco, Fetal Medicine Unit, University College London Hospital, EGA Wing, 25 Grafton Way, Fitzrovia, London WC1E 6DB, UK; a.sacco{at}ucl.ac.uk

Abstract

Objective To evaluate patient choices and uptake of non-invasive prenatal testing (NIPT) for aneuploidy screening offered in a contingency model as part of routine care.

Method We retrospectively reviewed data for all women with a singleton pregnancy attending for routine first trimester screening over an 18-month period. Women with a ‘high-chance’ of trisomy 21, 18 or 13 (≥1:150) were offered the choice of no further testing, NIPT or invasive testing, in line with the screening pathway recommended by the UK National Screening Committee.

Results Of 9342 women attending for a first trimester ultrasound scan, 7939 women were included in this study. Of these, 352 had a high-chance screening result for trisomy 21, and 291 (82.7%) opted for NIPT. The proportion of women opting for NIPT decreased as the chance of trisomy 21 increased: uptake was 93.2%, 90.0%, 77.1% and 47.2% for women with a chance of 1:100–150, 1:50–99, 1:10–49 and >1:10, respectively. 516 women (5.5%) accessed primary NIPT screening in the private sector, and 638 women (6.8%) declined any aneuploidy screening or testing.

Conclusion Implementation of NIPT testing in a contingency model has a high uptake in a non-research National Health Service setting; the rate of uptake is related to the combined test risk result.

  • NIPT
  • aneuploidy
  • Down’s syndrome
  • screening

https://doi.org/10.1136/archdischild-2019-317031

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    Footnotes

    • Contributors PP conceived and designed the study. HH collected the data. AS analysed the data and drafted the manuscript. All authors contributed to further editing of the manuscript and accept responsibility for the study as submitted.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests PP is Chair of the Fetal Anomaly Screening Programme Advisory Group at the National Screening Committee. AS and HH have no disclosures of interest to declare.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Patient consent for publication Not required.