Non-invasive prenatal testing: ethical issues explored

Jong, Antina de; Dondorp, Wybo; Die-Smulders, C.E.M. de; Frints, Suzanna G.M.; Wert, G.M.W.R. de

doi:10.1038/ejhg.2009.203

Cited by 140 publications

(123 citation statements)

References 66 publications

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“…14,15 Health professionals are also more likely to be aware of the growing body of literature, exploring the ethical and psychosocial concerns associated with NIPD. [26][27][28][29][30] Consequently, the value placed on accuracy by health professionals as compared with women in this study may, at least in part, be due to differences in their existing knowledge and concerns about the implementation of NIPD. To an extent, this view is supported by the observation that, in contrast to women recruited through antenatal clinics, those recruited through ARC, all of whom had experience of adverse results in a previous pregnancy and hence prior experience, had a greater preference for accuracy and a test that gave more information.…”

Section: Discussionmentioning

confidence: 94%

Women’s and health professionals’ preferences for prenatal tests for Down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with current invasive tests

Hill

Fisher²,

Chitty

et al. 2012

Genetics in Medicine

117

137

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Original research articlePurpose: To compare the preferences of women and health professionals for key attributes of noninvasive prenatal diagnosis for Down syndrome relative to current invasive tests. methods:A questionnaire incorporating a discrete choice experiment was used to obtain participants' stated preference for diagnostic tests that varied according to four attributes: accuracy, time of test, risk of miscarriage, and provision of information about Down syndrome only or Down syndrome and other conditions. Women and health professionals were recruited from five maternity services in England and a patient support group. Results:Questionnaires from 335 women and 181 health professionals were analyzed. Safe tests, conducted early in pregnancy, with high accuracy and information about Down syndrome and other conditions were preferred. The key attribute affecting women's preferences for testing was no risk of miscarriage, whereas for health professionals it was accuracy.conclusions: Policies for implementing noninvasive prenatal diagnosis must consider the differences between women's and health professionals' preferences to ensure the needs of all stakeholders are met. Women's strong preference for tests with no risk of miscarriage demonstrates that consideration for safety of the fetus is paramount in decision making. Effective pretest counseling is therefore essential to ensure women understand the possible implications of results. 2012:14(11):905-913 Genet Med

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Section: Discussionmentioning

confidence: 94%

Women’s and health professionals’ preferences for prenatal tests for Down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with current invasive tests

Hill

Fisher²,

Chitty

et al. 2012

Genetics in Medicine

117

137

View full text Add to dashboard Cite

show abstract

“…It has been suggested that this may require a new approach to informed choice, based on generic information about categories of outcomes rather than about specific disorders. 7 For a successful implementation of NIPT in The Netherlands, perspectives of pregnant women and partners should be taken into account and additional research is needed among a more representative study population to generalise the findings of this study.…”

Section: Discussionmentioning

confidence: 97%

“…Ethicists, however, worry that the safety and ease of the test might lead to normalisation of testing (trivial to offer and take) and to a decrease in informed choice, as parents might not be aware or fully comprehend what they are consenting to. 5,7 Other concerns that are being raised include whether earlier testing might lead to trivialisation of selective abortions, 7 or that the future prospective of broadening the scope of prenatal testing might lead to identifying and possibly aborting foetuses affected with minor abnormalities or non-medical traits. 8 It has also been argued that broadening the scope of NIPT could seriously complicate informed consent, counselling and decision-making.…”

Section: Introductionmentioning

confidence: 99%

“…8 It has also been argued that broadening the scope of NIPT could seriously complicate informed consent, counselling and decision-making. 7 As pregnant women are the target group for testing, it is important to explore their views and potential concerns on NIPT. In general, it has been shown that there is high (hypothetical) interest in NIPT among pregnant women.…”

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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“…To focus on issues involved with assessing benefits and harms from new and forthcoming genetic tests, we exclude from this study carrier-, pre-implantation, and prenatal testing for the purpose of family planning. These latter tests involve a range of very specific ethical issues which have been discussed elsewhere (de Jong et al 2010;Grosse et al 2010b;Kress 2007;Buchanan and Brock 2007).…”

mentioning

confidence: 99%

Points to consider in assessing and appraising predictive genetic tests

Rogowski

Grosse²,

John

et al. 2010

J Community Genet

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The use of predictive genetic tests is expanding rapidly. Given limited health care budgets and few national coverage decisions specifically for genetic tests, evidence of benefits and harms is a key requirement in decision making; however, assessing the benefits and harms of genetic tests raises a number of challenging issues. Frequently, evidence of medical benefits and harms is limited due to practical and ethical limitations of conducting meaningful clinical trials. Also, clinical endpoints frequently do not capture the benefit appropriately because the main purpose of many genetic tests is personal utility of knowing the test results, and costs of the tests and counseling can be insufficient indicators of the total costs of care. This study provides an overview of points to consider for the assessment of benefits and harms from genetic tests in an ethically and economically reflected manner. We discuss whether genetic tests are sufficiently exceptional to warrant exceptional methods for assessment and appraisal.

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Non-invasive prenatal testing: ethical issues explored

Cited by 140 publications

References 66 publications

Women’s and health professionals’ preferences for prenatal tests for Down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with current invasive tests

Women’s and health professionals’ preferences for prenatal tests for Down syndrome: a discrete choice experiment to contrast noninvasive prenatal diagnosis with current invasive tests

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

Points to consider in assessing and appraising predictive genetic tests

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