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

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 decisionmaking. 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.

Limited Clinical Utility of Non-invasive Prenatal Testing for Subchromosomal Abnormalities

“…One of the major perceived benefits of NIPT for aneuploidy is the significantly reduced requirement for invasive testing 23 and the consequent improved safety, which women value most highly. 24 Any change that increases the false-positive rate will negate to some degree this major benefit of NIPT screening. Given the rarity of these other rearrangements, the costs of introducing this testing (including economic costs, the potential loss of pregnancies resulting from increasing the invasivetesting rate, and the anxiety caused to parents) must be weighed against the possible benefits.…”

An easy test but a hard decision: ethical issues concerning non-invasive prenatal testing for autosomal recessive disorders

“…7 Research on the use of non-invasive prenatal diagnosis (NIPD) for the diagnosis of single gene disorders has to implementation for some conditions 8 and there is considerable support by prospective parents and health professionals for further development in this area. 9,10 European guidelines on the provision of prenatal-testing stress the need for prenatal testing to be offered without coercion, and also that provision of accurate, understandable information be provided to ensure a fully informed choice. 11 These principles apply to both invasive and non-invasive tests; however, there is some evidence to show that prenatal testing may be considered by parents as routine rather than optional.…”

“…12,13 There are also concerns that prenatal diagnosis itself can be viewed as 'eugenic' and discriminatory against people with disability. 14,15 While service users cite the earlier timing of the test and safety for the fetus 16 as major advantages of NIPD, health professionals were positive, but expressed reservations such as concerns about informed consent and potential 'routinisation' of a test that can be done on a 'simple' blood test. 17 It is clear, therefore, that before the full implementation of NIPD into clinical practice, ethical and social issues should be explored.…”

Offering prenatal diagnostic tests: European guidelines for clinical practice

“…19 According to a recent systematic review on the factors influencing the use of NIPT, 20 users and potential users cite the advantages of the non-invasive test as including earlier diagnosis (allowing earlier reassurance or decisions about the future of the pregnancy) and removal of the risk of fetal loss owing to the test. 21,22 However, the ease with which the test can be performed has made some women, health professionals and members of the general public concerned that parents might consent to the test without sufficient consideration of the consequences. 23,24 A recent position statement on NIPT published by the National Society of Genetic Counsellors 25 cited the need for both appropriate counselling to accompany the test and the need for informed consent.…”