Preferences for prenatal tests for Down syndrome: an international comparison of the views of pregnant women and health professionals

Abstract

Non-invasive prenatal testing is increasingly available worldwide and stakeholder viewpoints are essential to guide implementation. Here we compare the preferences of women and health professionals from nine different countries towards attributes of non-invasive and invasive prenatal tests for Down syndrome. A discrete choice experiment was used to obtain participants' stated preference for prenatal tests that varied according to four attributes: accuracy, time of test, risk of miscarriage, and type of information. Pregnant women and health professionals were recruited from Canada, Denmark, Iceland, Israel, Italy, the Netherlands, Portugal, Singapore, and the United Kingdom. A total of 2666 women's and 1245 health professionals' questionnaires were included in the analysis. Differences in preferences were seen between women and health professionals within and between countries. Overall, women placed greater emphasis on test safety and comprehensive information than health professionals, who emphasised accuracy and early testing. Differences between women's and health professionals' preferences are marked between countries. Varied approaches to implementation and service delivery are therefore needed and individual countries should develop guidelines appropriate for their own social and screening contexts. INTRODUCTIONMany countries have established prenatal screening programmes for Down syndrome (DS), where an initial screening test is followed by the offer of an invasive diagnostic test for women with a 'high risk' result to allow definitive diagnosis. Non-invasive prenatal testing (NIPT), which analyses cell-free DNA in maternal plasma, is rapidly transforming prenatal testing for DS worldwide. 1 NIPT can be used from 10 weeks in pregnancy to screen for DS with high sensitivity (99.3%) and specificity (99.8%) and can detect other common chromosomal aneuploidies (Trisomy 18, Trisomy 13, and Monosomy X). 2,3 NIPT allows screening for these conditions with much greater specificity than traditional DS screening (DSS) 4 and thereby significantly reduces the need for invasive testing (chorionic villus sampling or amniocentesis) with the associated small miscarriage risk. 5

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

“…Positive conditional logit analysis regression coeffi cients for accuracy, full information and low miscarriage risk indicated that these attributes were preferred by both the women and HPs, while negative coeffi cients for time of results indicated that receiving results at an earlier gestational age was more desirable. These fi ndings had been previously reported (23) and meet a priori expectations, thereby supporting the validity of the results. The women prioritised low miscarriage risk, while the HPs had a stronger preference for accuracy and early results.…”

“…Overall, we found that when making decisions regarding prenatal testing, women in Singapore, like those in other countries, (21)(22)(23)28) place greater emphasis on test safety, while HPs place higher value on accuracy and early testing. We found that women who had a previous miscarriage, were aged ≥ 35 years or knew a child with DS gave higher priority to a test that does not carry a risk of miscarriage.…”

“…Of those who responded, when given a choice between NIPT, IPD or neither test, 47.1% would choose NIPT, 41.4% would choose IPD and a sizable proportion (11.4%) would choose neither test. In comparison to many other countries, (23) both HPs and women in Singapore were more likely to choose an invasive test over NIPT when given a direct choice. The decision to opt for IPD over NIPT appears to be driven by a preference for having as much information as possible, since women who chose IPD were found to place greater value on having full information than women who chose NIPT or no test.…”

“…The chosen attributes covered the major differences between NIPT and invasive testing, namely accuracy (levels of 95%, 99% and 100%), time of results (10 weeks, 12 weeks and 16 weeks of gestation), risk of miscarriage (small [1%] or none) and amount of information provided (trisomies 21, 18 and 13 only, or these three aneuploidies plus additional information on other chromosomal abnormalities). As detailed in the study by Hill et al, (23) the number of possible combinations of attributes and levels was reduced statistically from 32 scenarios (23 × 22) to nine. After an internal consistency check, an extra choice set with one obviously superior test was included, resulting in a total of ten pairwise choice sets.…”

“…(21,22) A DCE comparing the preferences of women and HPs from nine different countries, including Singapore, has recently been published. (23) Herein, we report detailed fi ndings of the preferences of women and HPs for NIPT from the Singapore cohort, with the aim of gaining an understanding of the challenges women and HPs may face upon widespread implementation of the test in Singapore. Preferences for four prenatal test attributes -accuracy, time of results, risk of miscarriage and amount of information provided -were assessed.…”