Abstract
Noninvasive prenatal testing (NIPT) using cell-free DNA in maternal blood is increasingly common compared with invasive testing (IT) in routine antenatal detection of Down syndrome (DS). To assess attitudes and decision making in pregnant women facing a risk of fetal DS greater than 1 in 250 as established by combined first trimester screening at 11 to 14 weeks of gestation. Survey study in which data were collected from pregnant women at high risk of fetal DS participating in a randomized clinical trial. Data were collected from April 8, 2014, to April 7, 2016, in 57 prenatal diagnosis centers in France. Data were analyzed in 2018. Data on attitudes were collected prior to offering randomization between NIPT and IT, whereas data on decision making and test results were collected as part of the clinical trial. The primary outcome related to attitudes. A hierarchical cluster analysis was conducted to identify clusters with contrasting attitudes. Logistic regression analyses were used to identify factors associated with attitudes. All 2436 consecutive women to whom the study was proposed (mean [SD] age, 36.3 [5.0] years) answered the questionnaire: 515 (21.1%) expressed preference toward IT with complete karyotyping, whereas 1843 (75.7%) favored NIPT with almost certain but limited information. Hierarchical cluster analysis yielded 4 different clusters that mainly differed in attitudes toward risk taking and extent of information seeking. Factors likely associated with attitudes driven by risk aversion were mostly age and religious beliefs (adjusted odds ratio [aOR], 1.03; 95% CI, 1.00-1.05; P = .03 and aOR, 1.62; 95% CI, 1.29-2.04; P < .001, respectively), whereas higher nuchal translucency measurements by ultrasonography were associated with attitudes driven by ambiguity aversion (aOR, 1.67; 95% CI, 1.27-2.20; P < .001). For attitudes involving both risk and ambiguity aversion at different extents, lower education was associated with highly valuing all possibilities of getting information on pregnancy, whereas higher education was associated with highly valuing information on fetal DS as a primary concern (aOR, 0.54; 95% CI, 0.44-0.67; P < .001 and aOR, 1.44; 95% CI, 1.20-1.74; P < .001, respectively). In all, decision making was in line with attitudes. Aversion to risk of fetal loss related to IT and aversion to ambiguity generated by incomplete information from NIPT played a major role in shaping attitudes and decision making. Informed decision making should require pregnant women at high risk of DS to receive extensive information on targeted abnormalities by both tests.
Highlights
Factors likely associated with attitudes driven by risk aversion were mostly age and religious beliefs, whereas higher nuchal translucency measurements by ultrasonography were associated with attitudes driven by ambiguity aversion
For attitudes involving both risk and ambiguity aversion at different extents, lower education was associated with highly valuing all possibilities of getting information on pregnancy, whereas higher education was associated with highly valuing information on fetal Down syndrome (DS) as a primary concern
Aversion to risk of fetal loss related to invasive testing (IT) and aversion to ambiguity generated by incomplete information from noninvasive prenatal testing (NIPT) played a major role in shaping attitudes and decision making
Summary
Prenatal screening for Down syndrome (DS) is widely performed at 11 to 14 weeks of gestation by using a combination of maternal age, measurements of fetal nuchal translucency by ultrasonography, and maternal serum concentrations of free human chorionic gonadotropin and plasma protein A.1 Various cutoffs of risk have been chosen to offer invasive testing (IT) as a second step, usually between 1 in 100 and 1 in 300.1 More recently, noninvasive prenatal testing (NIPT) using cell-free DNA circulating in maternal plasma has emerged as an intermediate step within a conditional screening algorithm, as the positive predictive value of combined screening is around 1 in 16 for DS.[2,3,4,5,6,7] In contrast with IT, which involves a risk of miscarriage but provides full information on all possible chromosomal abnormalities, NIPT carries no risk of miscarriage but only provides information on the targeted abnormalities and only in terms of very high likelihood of their presence or absence. Various cutoffs of risk have been chosen to offer invasive testing (IT) as a second step, usually between 1 in 100 and 1 in 300.1 More recently, noninvasive prenatal testing (NIPT) using cell-free DNA circulating in maternal plasma has emerged as an intermediate step within a conditional screening algorithm, as the positive predictive value of combined screening is around 1 in 16 for DS.[2,3,4,5,6,7] In contrast with IT, which involves a risk of miscarriage but provides full information on all possible chromosomal abnormalities, NIPT carries no risk of miscarriage but only provides information on the targeted abnormalities and only in terms of very high likelihood of their presence or absence. The accuracy of cell-free-DNA to detect DS is around 99% with a 0.1% false-positive rate, and IT is carried out to confirm a positive result.[8] As a result, NIPT involves both a risky, almost certain, component about targeted abnormalities together with an uncertain component about nontargeted abnormalities. Decision making between IT and NIPT could be driven by aversion toward ambiguous information as much as by IT-related pregnancy loss risk aversion
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