The attitude of women toward current and future possibilities of diagnostic testing in maternal blood using fetal DNA

Kooij, L; Tymstra, Tjeerd; Berg, Paul van den

doi:10.1002/pd.2205

Cited by 44 publications

(52 citation statements)

References 10 publications

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“…These findings are in line with other studies where positive attitudes and high interest in NIPT were found among pregnant women. 9,11,14 However, participants in this study realised that the relatively low barrier for the use of NIPT could also have a downside, as it could lead to women feeling less justified to decline this test and thereby jeopardising informed decision-making. This was also shown in a qualitative study by Lewis et al 11 in the UK where participants expressed a concern that women might feel pressured to test when a risk-free blood test is available and offered by trusted healthcare professionals.…”

Section: Discussionmentioning

confidence: 93%

“…Male partners are often not included in research but as decisions about prenatal testing are preferably made by both partners, and research has shown that men want to be involved in this decision-making process, 13 the views of male partners were also explored in this study. Most studies about pregnant women's attitudes towards NIPT have been based on quantitative methods, 9,10,12,14 which have the advantage of being able to include a large study sample. However, they lack a thorough, in-depth analysis of these attitudes.…”

Section: Introductionmentioning

confidence: 99%

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Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening

et al. 2014

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Non-invasive prenatal testing (NIPT) and its potential to test for multiple disorders has received much attention. This study explores attitudes of women and men towards NIPT, and their views on widening the scope of prenatal testing in a country with a low uptake of prenatal screening (The Netherlands). Five focus groups with low-risk pregnant women (n ¼ 28), three focus groups with men (n ¼ 19) and 13 interviews with high-and low-risk pregnant women were conducted. Participants felt that current prenatal screening has great disadvantages such as uncertain results and risk of miscarriage from follow-up diagnostics. Characteristics of NIPT (accurate, safe and early testing) could therefore diminish these disadvantages of prenatal screening and help lower the barrier for participation. This suggests that NIPT might allow couples to decide about prenatal testing based mostly on their will to test or not, rather than largely based on fear of miscarriage risk or the uncertainty of results. The lower barrier for participation was also seen as a downside that could lead to uncritical use or pressure to test. Widening the scope of prenatal testing was seen as beneficial for severe disorders, although it was perceived difficult to determine where to draw the line. Participants argued that there should be a limit to the scope of NIPT, avoiding testing for minor abnormalities. The findings suggest that NIPT could enable more meaningful decision-making for prenatal screening. However, to ensure voluntary participation, especially when testing for multiple disorders, safeguards on the basis of informed decision-making will be of utmost importance. INTRODUCTIONNon-invasive prenatal testing (NIPT) allows detection of chromosomal aneuploidies in the foetus by using circulating cell-free foetal DNA (cffDNA) in the plasma of pregnant women. 1 This technique makes it possible to detect foetal trisomies 21, 13 and 18 as early as 9 weeks into the pregnancy, and perhaps even earlier. 2 As the procedure of NIPT consists of only drawing a blood sample, it eliminates the risk of miscarriage associated with invasive diagnostic procedures, that is, chorionic villus sampling (CVS) and amniocentesis. Consequently, NIPT assures both earlier and safer prenatal testing, although diagnostic confirmation of abnormal NIPT results by invasive testing is still required due to the chance of false positive test results. 3 In 2010, Lo et al 4 showed that it is possible to deduce the entire genomic sequence of a foetus through NIPT, implying that NIPT could identify a much wider range of genetic disorders in the future. These major developments in the field of prenatal testing are generating a great amount of debate regarding the potential impact, benefits and drawbacks of NIPT. Greely 5 , for example, provides a summary of the ethical questions that have been raised with regard to the implications of NIPT on the current prenatal screening setting and

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Section: Discussionmentioning

confidence: 93%

Section: Introductionmentioning

confidence: 99%

Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening

et al. 2014

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“…[17][18][19] Here, we evaluate the service users' direct experience of using NIPD for sex-linked genetic conditions and have identified an overwhelmingly positive attitude of participants towards this technology as well as a number of practical and psychological benefits of a test that is easy to perform, is offered relatively early in pregnancy and has no risk of miscarriage. A number of disadvantages were raised.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2012

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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.

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“…Another study with pregnant women and female medical students showed the majority were positive about seeing NIPD as an asset in prenatal care, but not for sex selection (Kooij, Tymstra et al 2009). …”

Section: Public Attitudes Towards Prenatal Testing and Nipdmentioning

confidence: 99%

Public viewpoints on new non-invasive prenatal genetic tests

Farrimond

Kelly

2011

Public Underst Sci

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Prenatal screening programmes have been critiqued for their routine implementation according to clinical rationale without public debate. A new approach, non-invasive prenatal diagnosis (NIPD), promises diagnosis of fetal genetic disorders from a sample of maternal blood without the miscarriage risk of current invasive prenatal tests (e.g. amniocentesis). Little research has investigated the attitudes of wider publics to NIPD. This study used Q-methodology, which combines factor analysis with qualitative comments, to identify four distinct 'viewpoints' amongst 71 UK men and women: 1. NIPD as a new tool in the ongoing societal discrimination against the disabled; 2. NIPD as a positive clinical application offering peace of mind in pregnancy; 3. NIPD as a medical option justified for severe disorders only; and 4. NIPD as a valid expansion of personal choice. Concerns included the 'trivialization of testing' and the implications of commercial/direct-to-consumer tests. Q-methodology has considerable potential to identify viewpoints and frame public debate about new technologies.Running head: Public viewpoints on new non-invasive prenatal genetic tests 3 'Non-invasive prenatal diagnosis (or NIPD) is the term for a new approach to genetic prenatal diagnosis. NIPD technologies are at various stages of development, but as a collective, aim to offer earlier, easier and less risky genetic testing of the fetus through maternal blood with the potential to replace current diagnostic pathways (e.g. for Down's syndrome diagnosis) and widen prenatal testing possibilities (Hahn & Chitty, 2008). NIPD technologies have raised considerable debate within bioethical and social scientific communities, but with little attention within public 1 spheres to date. This paper reports findings from an ESRC funded study of public attitudes towards NIPD. It was conducted in the UK, where prenatal testing is a well-established aspect of obstetric care, and the small amount of media reporting of early NIPD trials has been largely positive. Non-invasive prenatal diagnosisCurrent screening pathways for common genetic disorders move progressively from noninvasive towards invasive techniques. Non-invasive technologies such as ultrasound are used initially to screen pregnancies. Those identified as 'high risk' are subsequently offered diagnosis through invasive techniques such as amniocentesis or chorionic villus sampling (CVS). These carry a small but significant miscarriage risk (Caughey, Hopkins et al. 2006) and are usually conducted from 15 weeks onwards. One goal of NIPD is to replace this two-step pathway with a one-step early less risky diagnostic test by taking blood from the pregnant woman to analyse the genetic information of the fetus. Non-invasive techniques have been driven by the discovery of 'cell-free fetal DNA' (cffDNA) and RNA (cffRNA) in maternal plasma during pregnancy (Lo, Corbetta et al. 1997). This allows the possibility of obtaining definitive genetic information about the fetus for a limited range of conditions (e.g. ...

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The attitude of women toward current and future possibilities of diagnostic testing in maternal blood using fetal DNA

Cited by 44 publications

References 10 publications

Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening

Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening

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

Public viewpoints on new non-invasive prenatal genetic tests

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