The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis

Wright, Caroline F.; Burton, Hilary

doi:10.1093/humupd/dmn047

Cited by 221 publications

(194 citation statements)

References 121 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: 93%

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: 93%

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

“…The absence of distress was also found which is a psychological benefit that sharply contrasts with women's experiences of invasive testing, which carries a risk of miscarriage. 21 Regarding the disadvantages of NIPD, very few issues were raised by participants and concerns such as the burden of 'unnecessary' decision-making for pregnancies that may spontaneously abort 22 were outweighed by the potential benefits of NIPD. One concern raised by a number of participants was around social sexing.…”

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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“…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.…”

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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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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The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis

Abstract: The analysis of cffNA may allow NIPD for a variety of genetic conditions and may in future form part of national antenatal screening programmes for DS and other common genetic disorders.

Cited by 221 publications

References 121 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

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

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

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