Abstract
Prenatal fetal sex determination is clinically indicated for women who are at risk of having a child with a serious genetic disorder affecting a particular sex. Ultrasound has been the traditional method used, but early fetal sex determination using non-invasive prenatal diagnosis (NIPD) can now be performed using cell-free fetal DNA in maternal plasma. The study aim was to assess the views and experiences of service users who had used NIPD for fetal sex determination. In this paper, we report on the perceived benefits and disadvantages. A qualitative approach using semi-structured interviews was used. A total of 44 participants (38 women and 6 partners of participating women) were recruited. Participants’ views and experiences of NIPD were overwhelmingly positive. Concerning benefits over traditional methods, three themes emerged: (1) technical aspects of technology; (2) timing; and (3) enhanced decision-making. Practical advantages of NIPD included avoiding miscarriage, and there were a number of psychological advantages associated with timing such as perceived control, early re-engagement, normalization of pregnancy and peace of mind. Participants also valued NIPD as it enabled a stepwise approach to decision-making. A number of disadvantages were discussed including concerns about social sexing and increased bonding at a time in pregnancy when miscarriage risk is high. However, participants felt these were fairly minor in comparison with the advantages of NIPD. Until definitive genetic diagnosis using NIPD is available, NIPD for fetal sex determination is perceived as a good interim measure with a number of notable advantages over traditional methods.
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Acknowledgements
We are grateful to the participants who were interviewed as part of this study. The National Institute for Health Research (NIHR) Program Grants for Applied Research program (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 Center at University College London Hospitals NHS Foundation Trust and University College London. The research funded is independent and the views expressed in the paper are those of the authors and not necessarily those of the NHS, the NIHR or the Department of Health.
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Lewis, C., Hill, M., Skirton, H. et al. Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users’ perspective. Eur J Hum Genet 20, 1127–1133 (2012). https://doi.org/10.1038/ejhg.2012.50
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DOI: https://doi.org/10.1038/ejhg.2012.50
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