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Fetal sex determination using cell-free fetal DNA: service users' experiences of and preferences for service delivery


  • Funding sources: The National Institute for Health Research (NIHR) Programme Grants for Applied Research programme (RP-PG-0707–10107) and the Central and East London NIHR Comprehensive Local Research Network funded the research. LSC is partially funded by the Great Ormond Street Hospital Children's Charity; the NIHR comprehensive Biomedical Research Centre at University College London Hospitals NHS Foundation Trust and University College London. The funders have had no role in any aspect of study design, collection, analysis or interpretation, or in the writing of the report and decision to submit for publication. The research funded is independent, and the views expressed in the article are those of the authors and not necessarily those of the NHS, the NIHR or the Department of Health.

  • Conflicts of interest. None declared.

Celine Lewis. E-mail:



The aim of this study was to determine service users' experiences of and preferences for service delivery of fetal sex determination by noninvasive prenatal diagnosis (NIPD) using cell-free fetal DNA.


We used a qualitative approach using semistructured interviews. Thirty-eight women and six of their partners were recruited.


NIPD was viewed as a positive development, which facilitated reproductive autonomy as it expanded reproductive choice. The majority of women heard about NIPD during pregnancy and had received information about the test at a specialist centre. Features of NIPD women considered most important were that it could be performed early in pregnancy and was safe. Participants had a preference for being given information about NIPD and test results by a healthcare professional experienced in genetic testing and with specialist knowledge about their condition, rather than a general practitioner or midwife who may not have the same level of knowledge. Women also valued receiving their test results by telephone.


Women were overwhelmingly positive about their experience of NIPD, which suggests that current delivery of this service in England is acceptable to these patients who are at high risk of sex-linked genetic disorders. They particularly valued expert counselling both before and after testing, emphasising that it should be offered through specialist services. © 2012 John Wiley & Sons, Ltd.

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