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‘Is it better not to know certain things?’: views of women who have undergone non-invasive prenatal testing on its possible future applications
  1. Hilary Bowman-Smart1,2,
  2. Julian Savulescu1,3,
  3. Cara Mand1,
  4. Christopher Gyngell1,4,
  5. Mark D Pertile1,5,
  6. Sharon Lewis1,4,
  7. Martin B Delatycki1,2,4,5
  1. 1 Murdoch Children’s Research Institute, Parkville, Victoria, Australia
  2. 2 Faculty of Medicine, Nursing and Health Sciences, Monash University, Clayton, Victoria, Australia
  3. 3 Uehiro Centre for Practical Ethics, University of Oxford, Oxford, UK
  4. 4 Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia
  5. 5 Victorian Clinical Genetics Services, Parkville, Victoria, Australia
  1. Correspondence to Professor Martin B Delatycki, Murdoch Children’s Research Institute, Royal Children’s Hospital, Melbourne, VIC 3052, Australia; martin.delatycki{at}


Non-invasive prenatal testing (NIPT) is at the forefront of prenatal screening. Current uses for NIPT include fetal sex determination and screening for chromosomal disorders such as trisomy 21 (Down syndrome). However, NIPT may be expanded to many different future applications. There are a potential host of ethical concerns around the expanding use of NIPT, as examined by the recent Nuffield Council report on the topic. It is important to examine what NIPT might be used for before these possibilities become consumer reality. There is limited research exploring views of women on possible future uses of NIPT, particularly those of women who have undergone NIPT. In this study, we examined the views of women who undertook NIPT previously on the acceptability of and interest levels in using NIPT for a number of current and possible future applications. These included several medical conditions encompassing psychiatric, neurodevelopmental and adult-onset conditions as well as non-medical traits such as intelligence. One thousand women were invited to participate and 235 eligible surveys were received. Women generally reported an interest in using NIPT for medical conditions that severely impacted quality of life and with an onset earlier in life and stressed the importance of the accuracy of the test. Concerns were raised about the use of NIPT for non-medical traits. Respondents indicated that termination of pregnancy was not their only reason for testing, particularly in the case of sex. These results can further inform the ethical debate around the increasing integration of NIPT into healthcare systems.

  • genetic counselling/prenatal diagnosis
  • genetic screening/testing
  • genetic selection
  • obstetrics and gynaecology
  • predictive genetic testing

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  • Contributors HB-S, MBD, JS, CG, CM and SL designed the survey. MDP was engaged with recruitment. HB-S drafted the manuscript and performed the quantitative and qualitative data analysis. SL provided input into the data analysis and CM assisted with qualitative data analysis. All authors have read, had input into and approved the manuscript.

  • Funding Research conducted at the Murdoch Children’s Research Institute was supported by the Victorian Government’s Operational Infrastructure Support Program. This work was also supported by the Wellcome Trust [203132].

  • Competing interests MDP heads the not-for-profit VCGS NIPT laboratory which derives income from the percept NIPT. MBD is the Clinical Director of VCGS.

  • Ethics approval The study was approved by the Royal Children’s Hospital Human Research Ethics Committee (37154C) and the Monash University Human Ethics Committee (10576).

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

  • Patient consent for publication Not required.

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