Advances in prenatal screening: the ethical dimension

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

doi:10.1038/nrg3036

Cited by 118 publications

(87 citation statements)

References 39 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…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

View full text Add to dashboard Cite

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

show abstract

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

“…This is an important observation given the widely accepted view that the aim of prenatal screening for foetal abnormalities is to provide meaningful options for reproductive choice. 30 Pressure to test and routinisation of NIPT, however, could have the opposite effect by undermining reproductive autonomy. This implies that safeguards ensuring voluntary participation on the basis of informed decision-making will be of utmost importance.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2014

View full text Add to dashboard Cite

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

show abstract

“…Prenatal screening should also be excluded. This application was not considered specifically in the ESHG statement but, although research advances are now opening up new opportunities for diagnosis based on free fetal DNA and RNA in maternal blood samples, there are significant ethical implications 18 and serious potential consequences for mother and foetus that mandate the highest quality information, appropriate genetic counselling and close medical supervision. EASAC-FEAM agree with the ESHG statement that nutrigenomic testing should be discouraged perhaps primarily because of its linkage with the sale of dietary supplements of little or no proven value.…”

Section: The Scope Of Dtc Genetic Testingmentioning

confidence: 99%

The perspective from EASAC and FEAM on direct-to-consumer genetic testing for health-related purposes

Fears

Boccia

Cornel³

et al. 2012

Eur J Hum Genet

View full text Add to dashboard Cite

Direct-to-consumer (DTC) genetic testing services raise scientific, regulatory and ethical questions. A report was prepared by consultation with an expert Working Group and published by the academies of science (European Academies of Science Advisory Council, EASAC) and medicine (Federation of European Academies of Medicine, FEAM). This report reviews current scientific evidence, ascertains the principles that should underpin the options for action by policy-makers, and discusses the potential for devising proportionate and flexible regulation that enables future innovation, taking account of the work of other expert groups, most notably the European Society of Human Genetics. EASAC-FEAM concluded that DTC genetic testing has little clinical value at present, and expresses especial caution in several specific respects, for example relating to testing for high penetrance, serious disorders, prenatal screening, nutrigenomic and pharmacogenetic testing. It was emphasised that regulation must be on the basis that claims about the link between genetic marker and disease are scientifically valid. Other key issues to address include quality assurance (that includes the professional interpretation of results), transparent supply of accurate information, consideration of the implications for established health services, and clarification of consent procedures for any use of data for research purposes. There are important implications: for the European Commission, in revising the Directive on In Vitro Diagnostic Medical Devices; for professional bodies, in supporting training and guideline development; for the broader research community, in generating the evidence base; and for the public health community, in improving the routine translation of research advances into clinical practice

show abstract

Advances in prenatal screening: the ethical dimension

Cited by 118 publications

References 39 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

The perspective from EASAC and FEAM on direct-to-consumer genetic testing for health-related purposes

Contact Info

Product

Resources

About