DEPIST 21: Information and knowledge of pregnant women about screening strategies including non-invasive prenatal testing for Down syndrome

Abstract By implementation of non-invasive prenatal testing (NIPT) for the diagnosis of Down syndrome (DS) in maternity care, an ethical debate is newly inflamed how to deal with this information. Fears of the consequences of an increased use of NIPT are justified with the same arguments when amniocentesis and preimplantation genetic diagnosis (PGD) were introduced decades ago. It can be expected that the prevalence of people with DS would significantly increase in Western societies as a result of the increasing age of pregnant women and the improved medical care for people with DS. The net effect as to whether an increasing uptake of NIPT will result in more abortions of fetuses with trisomy 21 cannot be reliably estimated. This holds true since more and more couples will use results of NIPT for information only, but will not opt for termination of pregnancy. Although parents love their children with DS, in a society where reproductive autonomy is seen as an achievement, access to NIPT cannot be limited. On this background, comprehensive and qualified pretest counseling is vital, also to avoid possible stigmatization of people with DS and as the resulting consequence to avoid feared deterioration in their living conditions, for which, however, there is no evidence to date. The personal view of a mother of a child with DS illustrates the complexity in dealing with NIPT, which does not allow simple answers and must be understood as a challenge for society as a whole.

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Cost-Effectiveness Analysis of Non-invasive Prenatal Testing for Down Syndrome in China

International Journal of Technology Assessment in Health Care ◽

10.1017/s0266462319000308 ◽

2019 ◽

Vol 35 (03) ◽

pp. 237-242 ◽

Cited By ~ 3

Author(s):

Yan Xu ◽

Yan Wei ◽

Jian Ming ◽

Na Li ◽

Ningze Xu ◽

...

Keyword(s):

Down Syndrome ◽

Cost Effectiveness ◽

Pregnant Women ◽

Universal Screening ◽

Prenatal Testing ◽

Screening Strategy ◽

Decision Analytic Model ◽

Cost Effectiveness Ratio ◽

Non Invasive ◽

The Cost

AbstractObjectivesThere is little evidence in China regarding the cost-effectiveness of non-invasive prenatal testing (NIPT) for Down syndrome (DS). This study aims to evaluate the cost-effectiveness of NIPT and provide evidence to inform decision-making.MethodsTo determine the cost-effectiveness of NIPT for DS, a decision-analytic model was developed using the TreeAge Pro software from a societal perspective in a simulated cohort of 10 000 pregnant women. Main indicators were based on field surveys from sampled hospitals in four locations in China and a literature review.ResultsThe conventional maternal serum screening (CMSS) strategy, contingent screening strategy (NIPT delivered to high risk pregnant women after CMSS), and universal screening strategy could prevent 3.02, 7.53, and 9.97 DS births, respectively. NIPT would decrease unnecessary invasive procedures, resulting in fewer procedure-related miscarriages. The cost-effectiveness ratio of the contingent screening strategy was the lowest. When compared with the CMSS strategy, the incremental cost per DS birth averted by the contingent screening strategy and universal screening strategy were USD 20,160 and 352,388, respectively. One-way sensitivity analysis showed that, if the cost of NIPT could be decreased to USD 76.92, the cost-effectiveness ratio of the universal screening strategy would be lower than the CMSS strategy.ConclusionsAlthough NIPT has the merits of greater effectiveness and safety, CMSS is unlikely to be replaced by NIPT at this time because of NIPT's higher cost. Contingent screening may be an appropriate strategy to balance the effectiveness and cost factors of the new genetic testing technology.

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Routinization of prenatal screening with the non-invasive prenatal test: pregnant women’s perspectives

European Journal of Human Genetics ◽

10.1038/s41431-021-00940-8 ◽

2021 ◽

Author(s):

Karuna R. M. van der Meij ◽

Annabel Njio ◽

Linda Martin ◽

Janneke T. Gitsels-van der Wal ◽

Mireille N. Bekker ◽

...

Keyword(s):

Down Syndrome ◽

Pregnant Women ◽

Prenatal Screening ◽

Screening Program ◽

Informed Choice ◽

Aneuploidy Screening ◽

Non Invasive ◽

Fetal Aneuploidy ◽

Societal Pressure ◽

Prenatal Test

AbstractDue to the favorable test characteristics of the non-invasive prenatal test (NIPT) in the screening of fetal aneuploidy, there has been a strong and growing demand for implementation. In the Netherlands, NIPT is offered within a governmentally supported screening program as a first-tier screening test for all pregnant women (TRIDENT-2 study). However, concerns have been raised that the test’s favorable characteristics might lead to uncritical use, also referred to as routinization. This study addresses women’s perspectives on prenatal screening with NIPT by evaluating three aspects related to routinization: informed choice, freedom to choose and (personal and societal) perspectives on Down syndrome. Nationwide, a questionnaire was completed by 751 pregnant women after receiving counseling for prenatal screening. Of the respondents, the majority (75.5%) made an informed choice for prenatal screening as measured by the multidimensional measure of informed choice (MMIC). Education level and religious affiliation were significant predictors of informed choice. The main reason to accept screening was “seeking reassurance” (25.5%), and the main reason to decline was “every child is welcome” (30.6%). The majority of respondents (87.7%) did not perceive societal pressure to test. Differences between test-acceptors and test-decliners in personal and societal perspectives on Down syndrome were found. Our study revealed high rates of informed decision-making and perceived freedom to choose regarding fetal aneuploidy screening, suggesting that there is little reason for concern about routinization of NIPT based on the perspectives of Dutch pregnant women. Our findings highlight the importance of responsible implementation of NIPT within a national screening program.

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Non-invasive prenatal testing for Down syndrome

Seminars in Fetal and Neonatal Medicine ◽

10.1016/j.siny.2013.10.003 ◽

2014 ◽

Vol 19 (1) ◽

pp. 9-14 ◽

Cited By ~ 23

Author(s):

Philip Twiss ◽

Melissa Hill ◽

Rebecca Daley ◽

Lyn S. Chitty

Keyword(s):

Down Syndrome ◽

Prenatal Testing ◽

Non Invasive

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PP350 Study On The Awareness, Willingness To Pay And Satisfaction With Non-Invasive Prenatal Testing Among Pregnant Women

International Journal of Technology Assessment in Health Care ◽

10.1017/s0266462320001622 ◽

2020 ◽

Vol 36 (S1) ◽

pp. 30-30

Author(s):

Changjia Fan ◽

Wenru Shang ◽

Jiayan Huang ◽

Yang Wan

Keyword(s):

Willingness To Pay ◽

Pregnant Women ◽

Birth Defects ◽

Financial Burden ◽

Down's Syndrome ◽

Prenatal Testing ◽

Down’S Syndrome ◽

Anhui Province ◽

Screening Methods ◽

Non Invasive

IntroductionBirth defects seriously affect children's survival and quality of life and bring great suffering and financial burden to children and their families. Down's syndrome is one of the most common birth defects. Compared with traditional serological screening methods, non-invasive prenatal testing (NIPT) has higher sensitivity and specificity in the screening of Down's syndrome. In April 2017, the People's Government of Fuyang City, Anhui Province launched a NIPT free screening program. From the perspective of the beneficiary, this research investigated the awareness, willingness to pay and satisfaction of pregnant women in Fuyang City, Anhui Province, to better improve the use of NIPT.MethodsA questionnaire survey was conducted on 1,221 pregnant women who experienced this program in Fuyang City, Anhui Province. Multivariate ordered logistic regression models were established to analyze the factors affecting the satisfaction of NIPT.ResultsA total of 1,217 valid questionnaires were collected. Research indicated 82.5 percent knew about NIPT and 81.9 percent were willing to pay personally when its price was CNY 800 (USD 113.88) per test among pregnant women. The satisfaction of pregnant women with NIPT showed that the waiting time for test results was relatively low (4.5 out of 5 points) compared with other aspects of satisfaction. The higher the education level of the pregnant women, the lower their satisfaction with NIPT.ConclusionsIt is necessary to pay attention to the characteristics of education and to improve the awareness and satisfaction of NIPT among pregnant women. Meanwhile, if it is affordable enough for NIPT services to be provided by the government, this mode should be promoted. In conjunction with the willingness to pay of pregnant women, NIPT payment methods should be developed appropriately.

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Obstetric professionals’ perceptions of non-invasive prenatal testing for Down syndrome: clinical usefulness compared with existing tests and ethical implications

BMC Pregnancy and Childbirth ◽

10.1186/s12884-017-1474-6 ◽

2017 ◽

Vol 17 (1) ◽

Cited By ~ 7

Author(s):

Olivia Miu Yung Ngan ◽

Huso Yi ◽

Samuel Yeung Shan Wong ◽

Daljit Sahota ◽

Shenaz Ahmed

Keyword(s):

Down Syndrome ◽

Prenatal Testing ◽

Clinical Usefulness ◽

Ethical Implications ◽

Non Invasive

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The Value of Non-Invasive Prenatal Testing in the Diagnosis of Birth Defects: Insights from a Large Multicentre Study in Southern China

10.21203/rs.3.rs-778395/v1 ◽

2021 ◽

Author(s):

Meiying Cai ◽

Na Lin ◽

Xuemei Chen ◽

Ying Li ◽

Min Lin ◽

...

Keyword(s):

Multicentre Study ◽

Pregnant Women ◽

Chromosomal Abnormalities ◽

Southern China ◽

Prenatal Testing ◽

Copy Number Variations ◽

Trisomy 13 ◽

Detection Rates ◽

Non Invasive ◽

Large Multicentre Study

Abstract Non-invasive prenatal testing (NIPT) is a fast, safe, and non-disruptive diagnostic method. At present, few studies have evaluated the screening efficiency of NIPT positive predictive value (PPV) in study subjects. Here, the results of NIPT in pregnant women were retrospectively analysed, and the detection rate, PPV and follow-up data were evaluated to determine its clinical value. A large multicentre study was conducted involving 52,855 pregnant women who received NIPT. Based on gestational age, amniotic fluid or umbilical cord blood were extracted for simultaneous karyotype and chromosome microarray analysis (CMA) in NIPT-positive patients. Among the 52,855 cases, 754 were NIPT-positive, with a positivity rate of 1.4%. Karyotype analysis and/or CMA confirmed 323 cases of chromosomal abnormalities, with a PPV of 45.1%. PPV of Trisomy 21 (T21), Trisomy 18 (T18), Trisomy 13 (T13), sex chromosomal aneuploidies (SCA) and copy number variations (CNV) were 78.9%, 35.3%, 22.2%, 36.9% and 32.9%, respectively. The PPV of T21, T18, and T13 increased with age whereas, the PPV of SCA and CNVs had little correlation with age. The PPV was significantly high in patients with advanced age along with an abnormal ultrasound.NIPT had a high PPV for T21, and a low PPV for T13 and T18, while screening for SCA and CNVs showed clinical significance. However, in case of NIPT screening for SCA and CNVs, simultaneous karyotype and CMA should be performed to increase the detection rates. Interventional prenatal diagnosis is still required in NIPT-positive cases to avoid false positives or unnecessary termination of pregnancy.

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Review of: Kaposy C. (2018) Choosing Down Syndrome

Canadian Journal of Bioethics ◽

10.7202/1058145ar ◽

2019 ◽

Vol 2 (2) ◽

pp. 21-22

Author(s):

Meghan Chevalier

Keyword(s):

Down Syndrome ◽

Prenatal Testing ◽

Pragmatic Approach ◽

Social Disability ◽

Children With Down Syndrome ◽

Non Invasive ◽

Qualitative Evidence ◽

The Social

With the advent of Non-Invasive Prenatal Testing, Chris Kaposy believes that more people should choose to parent children with Down Syndrome. Kaposy advocates for the Social Disability Model and recommends a normative pragmatic approach as standard. He makes use of both quantitative and qualitative evidence to support his position.

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