Will the introduction of non-invasive prenatal diagnostic testing erode informed choices? An experimental study of health care professionals

Heuvel, Ananda van den; Chitty, Lyn S.; Dormandy, Elizabeth; Newson, Ainsley J; Deans, Zuzana; Attwood, Sophie; Haynes, Shelley V. Z.; Marteau, Theresa M.

doi:10.1016/j.pec.2009.05.014

Cited by 115 publications

(86 citation statements)

References 16 publications

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“…Moreover, another UK study has shown that healthcare professionals think that giving written consent and performing counselling and testing on different days is less important for NIPT than for invasive diagnosis. 22 These findings support concerns around the potential uncritical use or routinisation of NIPT, which were expressed by some participants. Several participants also feared that the introduction of NIPT could eventually lead to less support for and acceptance of people with disabilities, as fewer disabled children will be born.…”

Section: Discussionsupporting

confidence: 61%

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: Discussionsupporting

confidence: 61%

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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“…35 In addition, health professionals have been found to view NIPD more like screening than an invasive diagnostic test, suggesting that they may not provide the same level of information and counseling as they would for an invasive diagnostic test. 36 The results of our study demonstrate that the option of a test with no miscarriage risk is indeed highly influential for women making decisions regarding prenatal testing. The predicted probability analysis shows that women ranked the attributes of the current invasive tests lower than the theoretical NIPD tests, regardless of test accuracy.…”

Section: Discussionmentioning

confidence: 71%

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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“…However, our review has highlighted important challenges for this field of research and suggests the need for further work in the area especially with the expansion of carrier screening and noninvasive prenatal screening. 69,70 The focus of this review was on the measurement tools used in population genetic screening for reproductive risk. For this reason the review did not include guidelines or qualitative studies.…”

Section: Discussionmentioning

confidence: 99%

Measuring informed choice in population-based reproductive genetic screening: a systematic review

et al. 2014

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Genetic screening and health-care guidelines recommend that programmes should facilitate informed choice. It is therefore important that accurate measures of informed choice are available to evaluate such programmes. This review synthesises and appraises measures used to evaluate informed choice in population-based genetic screening programmes for reproductive risk. Databases were searched for studies offering genetic screening for the purpose of establishing reproductive risk to an adult population sample, in which aspects of informed choice were measured. Studies were included if, at a minimum, measures of uptake of screening and knowledge were used. Searches identified 1462 citations and 76 studies were reviewed in full text; 34 studies met the inclusion criteria. Over 20 different measures of informed choice were used. Many measures lacked adequate validity and reliability data. This systematic review will inform future evaluation of informed choice in population genetic screening programmes.

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Will the introduction of non-invasive prenatal diagnostic testing erode informed choices? An experimental study of health care professionals

Cited by 115 publications

References 16 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

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

Measuring informed choice in population-based reproductive genetic screening: a systematic review

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