NIPT-based screening for Down syndrome and beyond: what do pregnant women think?

Schendel, Rachèl V. van; Dondorp, Wybo; Timmermans, Daniëlle R. M.; Hugte, Eline J.H. van; Boer, Anne de; Pajkrt, Eva; Lachmeijer, Augusta M. A.; Henneman, Lidewij

doi:10.1002/pd.4579

Cited by 64 publications

(78 citation statements)

References 30 publications

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“…This might imply that women opting for NIPT have different motives than women opting for invasive testing in that they want to prepare themselves for a child with Down syndrome and therefore prefer a risk‐free test. Results from two questionnaire studies also showed that NIPT will probably be used more readily in women who just want to prepare themselves 24, 25. In a UK study, where women were offered NIPT as a second screening test through the National Health Service (NHS), 31% (13/42) of women with a confirmed diagnosis of Down syndrome after NIPT continued the pregnancy, compared to 7% (2/29) after direct invasive testing 26.…”

Section: Discussionmentioning

confidence: 99%

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part II—women's perspectives

et al. 2016

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ObjectiveTo evaluate preferences and decision‐making among high‐risk pregnant women offered a choice between Non‐Invasive Prenatal Testing (NIPT), invasive testing or no further testing.MethodsNationwide implementation study (TRIDENT) offering NIPT as contingent screening test for women at increased risk for fetal aneuploidy based on first‐trimester combined testing (>1:200) or medical history. A questionnaire was completed after counseling assessing knowledge, attitudes and participation following the Multidimensional Measure of Informed Choice.ResultsA total of 1091/1253 (87%) women completed the questionnaire. Of these, 1053 (96.5%) underwent NIPT, 37 (3.4%) invasive testing and 1 (0.1%) declined testing. 91.7% preferred NIPT because of test safety. Overall, 77.9% made an informed choice, 89.8% had sufficient knowledge and 90.5% had positive attitudes towards NIPT. Women with intermediate (odds ratio (OR) = 3.51[1.70–7.22], p < 0.001) or high educational level (OR = 4.36[2.22–8.54], p < 0.001) and women with adequate health literacy (OR = 2.60[1.36–4.95], p = 0.004) were more likely to make an informed choice. Informed choice was associated with less decisional conflict and less anxiety (p < 0.001). Intention to terminate the pregnancy for Down syndrome was higher among women undergoing invasive testing (86.5%) compared to those undergoing NIPT (58.4%) (p < 0.001).ConclusionsThe majority of women had sufficient knowledge and made an informed choice. Continuous attention for counseling is required, especially for low‐educated and less health‐literate women. © 2016 The Authors. Prenatal Diagnosis published by John Wiley & Sons, Ltd.

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Section: Discussionmentioning

confidence: 99%

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part II—women's perspectives

et al. 2016

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“…Studies from the United States and the Netherlands found that one third of people surveyed reported not wanting any tests for Down syndrome [10,14]. In addition, the possibility of a false positive and the need for a confirmatory invasive test can lead women to decline NIPT [46].…”

Section: Uptake Of Prenatal Testsmentioning

confidence: 95%

“…In addition to T21, T18 and T13 several companies now offer testing for sex chromosome aneuploidies, aneuploidies associated with high risk for early pregnancy loss (T9, T16, and T22) and microdeletion syndromes [4]. Very few studies have examined stakeholder views of these new applications for NIPT [11,14,48,49]. Whilst women are generally interested in having tests for sex chromosome aneuploidies and microdeletion syndromes [11,48,49], some question the usefulness of screening for conditions with variable or unknown outcomes [49].…”

Section: Expanding Uses Of Noninvasive Prenatal Testing/diagnosismentioning

confidence: 99%

“…Quantitative and qualitative approaches have been used to assess the views of future and current service users, parents of children with disabilities, the general public and health professionals. The majority of studies have focused on NIPT for aneuploidy with researchers gathering views first on the hypothetical use of this test [5][6][7][8][9][10][11][12][13][14][15] and, more recently, on experience drawn from use within clinical practice [16-18,19 & ,20]. Researchers have also looked at stakeholder views on NIPD for fetal sex determination [21][22][23][24], single gene…”

Section: Introductionmentioning

confidence: 99%

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Stakeholder attitudes and needs regarding cell-free fetal DNA testing

Hill

Lewis²,

Chitty³

2016

Current Opinion in Obstetrics &Amp; Gynecology

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Stakeholders are positive about the introduction of cell-free fetal DNA testing into clinical practice. They describe both practical and psychological benefits arising from tests that are safe and can potentially be performed earlier in pregnancy. Key concerns, which include the potential for these tests to have a negative impact on informed decision making and increased societal pressure to have testing, can be addressed through careful parent-directed counseling. As applications for these tests expand it is increasingly important to develop innovative approaches to facilitate good understanding for parents who are offered noninvasive prenatal testing.

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“…There is evidence that women from some other countries also show a preference for IPD over NIPT, (23) or would prefer not to have any prenatal testing. (23,30,31) Therefore, while it is likely that many women will decide to have NIPT, it is important that HPs discuss alternatives to NIPT, such as invasive testing and the option of no testing at all, during pre-test counselling.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of preferences of women and healthcare professionals in Singapore for implementation of noninvasive prenatal testing for Down syndrome

Barrett¹,

Advani²,

Chitty³

et al. 2017

smedj

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INTRODUCTIONInvasive prenatal diagnosis (IPD) has long been used to prenatally diagnose Down syndrome (DS), but it is associated with a small risk of miscarriage. Noninvasive prenatal testing (NIPT) is a highly sensitive screening test using cell-free DNA in maternal blood for detection of DS without the risk of miscarriage, but it confers a small risk of false-positive and false-negative results. The implementation of these procedures into clinical practice requires an understanding of stakeholder preferences.METHODS A total of 69 health professionals (HPs) and 301 women took part in a discrete choice experiment (DCE) in which preferences for four prenatal test attributes -accuracy, time of results, risk of miscarriage and amount of information provided -were assessed. Conditional logit regression was used to analyse the data. Data on demographics and ranked preferences for test attributes was collected, and a direct choice question regarding NIPT, IPD or neither test was posed to participants. RESULTSThe women showed a preference for test safety, whereas HPs prioritised test accuracy above all other attributes.When offered a direct choice of NIPT, IPD or neither test, women aged 35 years and older, those with previous miscarriage or who knew a child with DS were more likely to choose NIPT. Chinese women preferred NIPT, whereas Indian women preferred IPD.CONCLUSION Our data highlights the need for patient-specifi c counselling, taking into account previous experiences and cultural factors. Since women and HPs prioritise different test attributes, it is essential that HPs recognise these differences in order to provide non-biased counselling.

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NIPT-based screening for Down syndrome and beyond: what do pregnant women think?

Abstract: The results suggest that the uptake of screening will increase with NIPT. If NIPT will be offered for a broad range of conditions, it is crucial to find a way that facilitates rather than undermines well-informed decision-making.

Cited by 64 publications

References 30 publications

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part II—women's perspectives

Trial by Dutch laboratories for evaluation of non‐invasive prenatal testing. Part II—women's perspectives

Stakeholder attitudes and needs regarding cell-free fetal DNA testing

Evaluation of preferences of women and healthcare professionals in Singapore for implementation of noninvasive prenatal testing for Down syndrome

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