Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users' perspective

Eur J Hum Genet. 2012 Nov;20(11):1127-33. doi: 10.1038/ejhg.2012.50. Epub 2012 Mar 28.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Attitude
  • Female
  • Genetic Testing / standards
  • Humans
  • Male
  • Patients / psychology
  • Pregnancy
  • Prenatal Diagnosis / standards
  • Quality Control
  • Sex Determination Analysis / standards*
  • Surveys and Questionnaires