Women’s Attitudes Toward Invasive and Noninvasive Testing When Facing a High Risk of Fetal Down Syndrome

Seror, Valérie; l’Haridon, Olivier; Bussières, Laurence; Malan, Valérie; Fries, N.; Vekemans, Michel; Salomon, Laurent; Ville, Y.

doi:10.1001/jamanetworkopen.2019.1062

Cited by 25 publications

(19 citation statements)

References 50 publications

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“…The sample size calculation was based on detecting an effect that would produce a difference in the mean score of post-test reassurance questionnaire from about 60 points with SD (sigma value) of 17 points in the control group to 75 points in the intervention group. 10,14 We determined that a sample size of 40 (20 per group) patients would provide a power of 80% with a 2-sided type 1 error of 5%.…”

Section: Sample Size Calculationmentioning

confidence: 99%

First‐trimester screening based on cell‐free DNA vs combined screening: A randomized clinical trial on women's experience

et al. 2020

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Objective: To compare women's experience of first-trimester combined screening (FTCS), with women's experience of an approach that uses the combination of a detailed early anatomy scan and cell-free DNA (cfDNA) analysis. Methods: This was single-center, open label, parallel group, randomized clinical trial. Pregnant women were randomized at the time of their first prenatal visit to either a policy of first-trimester risk assessment based on FTCS, or to a policy of firsttrimester risk assessment based on ultrasound findings and cfDNA. FTCS included ultrasound evaluation with crown-rump length, nuchal translucency (NT) measurement, and a detailed ultrasound scan, along with biochemistry (PAPP-A and free beta hCG). In this group, invasive diagnostic testing was offered to patients with risk >1 in 100, or NT >3.5 mm, or any fetal abnormalities on ultrasound. Women randomized in the intervention group received an approach of first-trimester risk assessment based on ultrasound findings and cfDNA. cfDNA analysis included a simultaneous microarray-based assay of non-polymorphic (chromosomes 13, 18, 21, X and Y) and polymorphic loci to estimate chromosome proportion and fetal fraction. In the intervention group, invasive diagnostic testing was offered to patients with abnormal cfDNA screening results, or NT >3.5 mm, or any fetal abnormalities on ultrasound. Participants received pre-test and post-test questionnaires regarding to measure reassurance, satisfaction, and anxiety. The primary outcome was the post-test reassurance, defined as mean score of reassurance post-test questionnaire. The effect of the assigned screening test on the mean of each outcome was quantified as mean difference (MD) with 95% confidence interval (CI). Results: Forty women with singleton gestations were enrolled in the trial. Mean score for reassurance was significantly higher in the cfDNA group compared to the FTCS group in the pre-test questionnaire (MD 0.80 points, 95% CI 0.27 to 1.33) and in the post-test questionnaire (MD 16.50 points, 95% CI 2.18 to 30.82). Women randomized to the cfDNA group had higher satisfaction and lower mean anxiety score as assessed in the STAI pre-test questionnaire. Conclusions: First-trimester risk assessment for fetal aneuploidy with a combination of a detailed ultrasound examination and cfDNA is associated with better maternal

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Section: Sample Size Calculationmentioning

confidence: 99%

First‐trimester screening based on cell‐free DNA vs combined screening: A randomized clinical trial on women's experience

et al. 2020

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“…In France, 2,436 consecutive women at high risk of trisomy 21 (≥1/250) were asked to answer a questionnaire before being randomized in 57 prenatal diagnosis centers: 21% expressed preference toward invasive testing with conventional karyotyping, whereas 76% favored cfDNA testing with almost certain but limited information. Factors likely associated with attitudes driven by aversion to fetal loss risk were mostly maternal age (OR 1.03) and religious beliefs (OR 1.62), whereas increased fetal nuchal translucency measurement was associated with attitudes driven by aversion to diagnostic ambiguity (OR 1.67) [14]. Aversion to fetal loss risk can now be reconsidered according to a recent meta-analysis in which the procedure-related risk of miscarriage following chorionic villus sampling and amniocentesis appears to be almost negligible, particularly when control and intervention groups have similar background-risk for aneuploidies [9].…”

Section: Discussionmentioning

confidence: 99%

Cell-Free DNA Testing: What Is the Reason Why High-Risk Women Choose It?

et al. 2020

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Objective: The aim of the study wasto describe the past medical history, sociodemographic, and pregnancy characteristics of women at high risk for aneuploidy and to determine which factors are related to her choice of cell-free DNA (cfDNA) testing instead of invasive diagnostic testing. Methods: We conducted a prospective descriptive study including pregnant women from the Western Barcelona public health area at high risk for fetal aneuploidy, defined as a trisomy 21 or 18 risk between 1/10 and 1/250 at the combined first-trimester or at the second-trimester biochemical screening. During 1 year (December 2018 to November 2019), these women were asked to fill in a confidential questionnaire about her past medical history, demographic and pregnancy characteristics, and her opinion about termination of the pregnancy after a counseling consultation with a maternal-fetal medicine specialist in which advantages and disadvantages of both testing methods, cfDNA or diagnostic testing, were discussed. Logistic regression analysis was used to determine which factors were related with cfDNA uptake. Results: During the study period, 82 pregnant women filled the questionnaire. The median maternal age was 39.6 years (interquartile range [IQR] 37.3–40.9 years), and 73 (89%) of them were 35 years or older. Forty-three (52%) women opted for cfDNA testing, while 39 (48%) chose invasive diagnosis. In a logistic regression analysis, the use of assisted reproductive techniques (OR 13.03; 95% CI: 1.47–115.56; p = 0.021) and Latin American origin (OR 6.66; 95% CI 1.73–25.66; p = 0.006) were shown to be related to a higher cfDNA uptake. In contrast, nonreligious women (OR 0.21; 95% CI: 0.06–0.72; p = 0.013) and a favorable opinion about termination of pregnancy (OR 0.23; 95% CI: 0.06–0.92; p = 0.037) were related with a lower uptake. Conclusion: Half of the pregnant women at high risk for fetal aneuploidy opted for cfDNA testing. The main reason to choose cfDNA was avoiding the risk of pregnancy loss. Women using assisted reproductive techniques and those of Latin American origin preferred cfDNA testing, while nonreligious women and those with a favorable opinion on termination pregnancy preferred invasive testing.

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“…Two Down syndrome screening tests are commonly recommended by OB/GYN physicians for the routine prenatal care in Taiwan [14]: one in the first trimester (weeks [11][12][13][14] and the other the second trimester (weeks [15][16][17][18][19][20]. The first trimester combined test involves using ultrasound to examine a fetus' nuchal translucency (NT), along with the test of maternal serum markers (free β-hCG and PAPP-A).…”

Section: Introductionmentioning

confidence: 99%

“…Because of the prevalence of Down syndrome, a multitude of studies examined mothers’ knowledge, beliefs, and attitude about the abnormality. In particular, many studies focused on decision making following a prenatal diagnosis of Down syndrome using survey [ 17 , 18 ]or used qualitative interview to explore the decision-making process termination of pregnancy following a prenatal diagnosis [ 19 ] or focused only on those who had higher risk of fetal Down syndrome [ 20 ]. One qualitative research focused on describing the circumstances in which maternal serum screening for Down syndrome was offered to pregnant women and their reasons for undertaking it in Taiwan [ 21 ] and one study used meta-synthesis approach to report qualitative research studies related to pregnant women’s decision-making process only with regards to antenatal screening for Down syndrome [ 13 ].…”

Section: Introductionmentioning

confidence: 99%

Pregnant women’s attitudes and decision-making regarding prenatal Down syndrome screening and diagnosis: scale development and validation

Huang

Shih

Lin

et al. 2020

BMC Pregnancy Childbirth

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Background: Down syndrome is a common chromosomal abnormality and prenatal screening can inform parents of the risk of their baby having Down syndrome. Little research has examined how decisions regarding both Down syndrome screening as well as diagnosis are made among women who are currently pregnant and how their decisions are influenced by their social contexts, specifically family and social media, using mixed methods. The study was to test the validity and reliability of a scale that measures pregnant women's attitudes and decisionmaking concerning prenatal Down syndrome screening and diagnosis in urban areas of Taiwan. Methods: We developed an item pool based on a literature review and in-depth interviews with 30 pregnant women recruited at two district hospitals in urban areas. The item pool was reviewed by a panel of experts and then administered to 300 women who had been pregnant for less than 24 weeks and had not received the Down syndrome screening tests. We used item analysis and exploratory factor analysis to validate the scale and test its reliability. Results: The initial item pool had 54 items. After the expert review, three items were deleted. After the item analysis, 16 additional items were deleted. Exploratory factor analysis of the remaining items revealed four factors labeled-"Attitudes towards Down syndrome and Screening Tests," "Important others' Attitudes towards Down Syndrome," "Influence of Important Others on Decision-Making," and "Influence of Social Media on Decision-Making"and 16 of the remaining items had satisfactory loadings on those factors, explaining 72.0% of the total variance. The Cronbach's α values of the dimensions ranged between 0.75 and 0.90, demonstrating satisfactory internal reliability. Conclusions: The scale has satisfactory validity and reliability, and can be used to understand pregnant women's attitudes and decision-making regarding Down syndrome screening and diagnosis, and to help design tailored consultations for pregnant women in clinical settings.

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Women’s Attitudes Toward Invasive and Noninvasive Testing When Facing a High Risk of Fetal Down Syndrome

Cited by 25 publications

References 50 publications

First‐trimester screening based on cell‐free DNA vs combined screening: A randomized clinical trial on women's experience

First‐trimester screening based on cell‐free DNA vs combined screening: A randomized clinical trial on women's experience

Cell-Free DNA Testing: What Is the Reason Why High-Risk Women Choose It?

Pregnant women’s attitudes and decision-making regarding prenatal Down syndrome screening and diagnosis: scale development and validation

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